Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 223143 copy number gain NC_000001.10:g.108115974_108313305dup197332 -1 MedGen:C1527349 1 108115974 108313305 na na

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 1 108173844 rs11185151 C T rs11185151 9.50E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 T intron GWASdb_drug 1 108184270 rs4914952 C A rs4914952 9.60E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 C intron GWASdb_drug 1 108376302 rs7537000 A G rs7537000 3.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 1 108382827 rs9787296 A G rs9787296 4.66E-04 THYROTROPIN CAPZ ACTIN CAPPING PROTEIN|CAPZB PROTEIN, HUMAN|XKR4 PROTEIN, HUMAN|FOXE1 PROTEIN, HUMAN|MEMBRANE TRANSPORT PROTEINS|FORKHEAD TRANSCRIPTION FACTORS Thyroid stimulating hormone HPOID:0011747 DOID:7166|DOID:7998 A intron GWASdb_drug 1 108115145 rs2769668 T C rs2769668 1.30E-05 Urinary metabolites HPOID:0000079 DOID:557 G UTR-3 GWASdb_trait 1 108123685 rs1410403 C T rs1410403 3.33E-04 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 1 108127895 rs1328199 C T rs1328199 1.76E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 G intron GWASdb_trait 1 108141478 rs11803410 G A rs11803410 5.68E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 108156360 rs1410406 G A rs1410406 0.000650658 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 T intron GWASdb_trait 1 108173844 rs11185151 C T rs11185151 9.50E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 T intron GWASdb_trait 1 108176019 rs4915061 G A rs4915061 2.17E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 108176582 rs12752530 A C rs12752530 2.50E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 1 108181947 rs6693140 C T rs6693140 2.83E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 1 108184270 rs4914952 C A rs4914952 9.60E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 C intron GWASdb_trait 1 108185309 rs12410676 G A rs12410676 1.52E-05 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 G missense GWASdb_trait 1 108192390 rs4557997 C T rs4557997 9.16E-05 Heart rate HPOID:0005150|HPOID:0001645|HPOID:0001644|HPOID:0011704|HPOID:0005110 DOID:10273 T intron GWASdb_trait 1 108199479 rs12077977 C T rs12077977 1.35E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 108203647 rs17479604 C A rs17479604 6.98E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 1 108212860 rs2494047 T C rs2494047 7.00E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 108213416 rs12140510 C T rs12140510 8.74E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 1 108218925 rs2494052 G T rs2494052 1.40E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 108238325 rs6677871 T C rs6677871 5.14E-04 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 1 108245664 rs17019729 T C rs17019729 4.10E-05 Hypothyroidism HPOID:0000821 DOID:1459 T intron GWASdb_trait 1 108246246 rs6583042 A G rs6583042 5.60E-06 Hypothyroidism HPOID:0000821 DOID:1459 A intron GWASdb_trait 1 108246853 rs2494069 C T rs2494069 4.52E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 108250282 rs4503375 A G rs4503375 1.37E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 108250282 rs4503375 A G rs4503375 1.80E-05 Hypothyroidism HPOID:0000821 DOID:1459 G intron GWASdb_trait 1 108268801 rs17019810 C T rs17019810 8.41E-04 Myopia (pathological) HPOID:0000545 DOID:11830 T intron GWASdb_trait 1 108268801 rs17019810 C T rs17019810 2.00E-06 Hypothyroidism HPOID:0000821 DOID:1459 T intron GWASdb_trait 1 108269953 rs17019823 A C rs17019823 6.46E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 108269953 rs17019823 A C rs17019823 8.41E-04 Myopia (pathological) HPOID:0000545 DOID:11830 C intron GWASdb_trait 1 108269953 rs17019823 A C rs17019823 8.00E-09 Hypothyroidism HPOID:0000821 DOID:1459 C intron GWASdb_trait 1 108270130 rs17019828 T C rs17019828 3.40E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 108273631 rs6674340 A G rs6674340 5.00E-05 Hypothyroidism HPOID:0000821 DOID:1459 G intron GWASdb_trait 1 108281720 rs7519428 G A rs7519428 3.60E-05 Cognitive function HPOID:0100543 DOID:1561 G intron GWASdb_trait 1 108286368 rs12031375 A G rs12031375 3.20E-05 Cognitive function HPOID:0100543 DOID:1561 A intron GWASdb_trait 1 108286971 rs6583045 A G rs6583045 2.57E-05 Major depression (suicidal thoughts and behavior) HPOID:0000716 DOID:1470 G intron GWASdb_trait 1 108298979 rs41486546 T A rs41486546 1.60E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 1 108302922 rs12142335 G A rs12142335 8.00E-06 Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 1 108303686 rs7417283 C T rs7417283 4.51E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108303686 rs7417283 C T rs7417283 5.59E-06 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108307642 rs7514025 C T rs7514025 6.52E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108312656 rs6690837 T C rs6690837 8.31E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108313258 rs6583048 C T rs6583048 5.44E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T cds-synon GWASdb_trait 1 108315137 rs4462178 C T rs4462178 8.45E-06 Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 1 108319079 rs4914959 G A rs4914959 3.76E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 A intron GWASdb_trait 1 108321313 rs4914960 A G rs4914960 5.31E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 108322535 rs7521681 G A rs7521681 7.00E-07 Asthma and hay fever HPOID:0012384|HPOID:0002099 DOID:4483|DOID:2841 G intron GWASdb_trait 1 108325510 rs4514263 G A rs4514263 3.87E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 A intron GWASdb_trait 1 108325738 rs11185177 G A rs11185177 3.04E-04 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 A intron GWASdb_trait 1 108329926 rs11185178 T G rs11185178 8.14E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 108329926 rs11185178 T G rs11185178 8.95E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 108333763 rs4914961 T C rs4914961 7.31E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 C intron GWASdb_trait 1 108333763 rs4914961 T C rs4914961 9.14E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 C intron GWASdb_trait 1 108334622 rs4244133 T C rs4244133 5.89E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108334622 rs4244133 T C rs4244133 7.01E-05 Glycemic traits (pregnancy) HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108336533 rs17020055 A C rs17020055 6.50E-09 Hypothyroidism HPOID:0000821 DOID:1459 A intron GWASdb_trait 1 108338327 rs10494076 A G rs10494076 3.10E-05 Blood Phenotypes HPOID:0011028 DOID:74 A intron GWASdb_trait 1 108351812 rs17020088 T C rs17020088 5.40E-09 Hypothyroidism HPOID:0000821 DOID:1459 T intron GWASdb_trait 1 108356293 rs4612651 C T rs4612651 1.21E-04 Celiac disease HPOID:0001438 DOID:10608 C intron GWASdb_trait 1 108356820 rs12126655 A G rs12126655 2.00E-08 Thyroid stimulating hormone HPOID:0011747 DOID:7166|DOID:7998 G intron GWASdb_trait 1 108359505 rs4915076 T C rs4915076 8.00E-10 Hypothyroidism HPOID:0000821 DOID:1459 C intron GWASdb_trait 1 108366016 rs4915077 T C rs4915077 8.00E-10 Hypothyroidism HPOID:0000821 DOID:1459 T intron GWASdb_trait 1 108376302 rs7537000 A G rs7537000 3.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 1 108376302 rs7537000 A G rs7537000 2.11E-04 Celiac disease HPOID:0001438 DOID:10608 A intron GWASdb_trait 1 108382827 rs9787296 A G rs9787296 4.66E-04 Thyroid stimulating hormone HPOID:0011747 DOID:7166|DOID:7998 A intron GWASdb_trait 1 108402075 rs10494080 C A rs10494080 7.37E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 108402075 rs10494080 C A rs10494080 9.72E-05 Celiac disease HPOID:0001438 DOID:10608 C intron GWASdb_trait 1 108402103 rs10494081 C T rs10494081 9.76E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 1 108411794 rs1360564 T C rs1360564 7.58E-05 Waist-Hip Ratio HPOID:0001513 DOID:9970 A intron GWASdb_trait 1 108418552 rs11185191 T A rs11185191 6.95E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 108450627 rs11185215 A G rs11185215 3.96E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 1 108462844 rs345314 C T rs345314 2.14E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs10494078 1 108355778 108355778 intronic 0.916605 0.0378177780464068 GWAS of prostate cancer rs4503376 1 108268630 108268630 intronic 0.906399 0.042680582287114494 GWAS of prostate cancer rs10494074 1 108330010 108330010 intronic 0.842239 0.0745646523806768 GWAS of prostate cancer rs345306 1 108467386 108467386 intronic 0.795821 0.099184604943604 GWAS of prostate cancer rs345298 1 108436557 108436557 intronic 0.788149 0.10339167113899901 GWAS of prostate cancer rs345292 1 108425055 108425055 intronic 0.783555 0.105930513735066 GWAS of prostate cancer rs1332684 1 108414230 108414230 intronic 0.783092 0.10618721272466099 GWAS of prostate cancer rs10494083 1 108448202 108448202 intronic 0.717416 0.14422894180247803 GWAS of prostate cancer rs2494066 1 108245410 108245410 intronic 0.698902 0.155583716733614 GWAS of prostate cancer rs345271 1 108498145 108498145 intronic 0.662616 0.178738081542173 GWAS of prostate cancer rs2035015 1 108429934 108429934 intronic 0.629884 0.20073942324238597 GWAS of prostate cancer rs1360564 1 108411794 108411794 intronic 0.626656 0.202970797765397 GWAS of prostate cancer rs4915063 1 108190581 108190581 intronic 0.595883 0.22483900442503102 GWAS of prostate cancer rs2494047 1 108212860 108212860 intronic 0.57347 0.241489296464092 GWAS of prostate cancer rs7537000 1 108376302 108376302 intronic 0.563034 0.24946537856510598 GWAS of prostate cancer rs10494080 1 108402075 108402075 intronic 0.552811 0.25742332382529903 GWAS of prostate cancer rs345314 1 108462844 108462844 intronic 0.533508 0.272859063906229 GWAS of prostate cancer rs2335792 1 108122870 108122870 intronic 0.525799 0.279180244199407 GWAS of prostate cancer rs2494043 1 108265699 108265699 intronic 0.501723 0.299535989575941 GWAS of prostate cancer rs7519428 1 108281720 108281720 intronic 0.488876 0.310801282685862 GWAS of prostate cancer rs10494071 1 108202879 108202879 intronic 0.482881 0.316159882521568 GWAS of prostate cancer rs4531312 1 108296508 108296508 intronic 0.474797 0.32349203379403 GWAS of prostate cancer rs7543435 1 108202710 108202710 intronic 0.456021 0.341015157392315 GWAS of prostate cancer rs2494070 1 108247048 108247048 intronic 0.438483 0.358047239582571 GWAS of prostate cancer rs1999487 1 108408983 108408983 intronic 0.42023 0.376512946767322 GWAS of prostate cancer rs4915067 1 108248779 108248779 intronic 0.387965 0.41120745222148497 GWAS of prostate cancer rs4462178 1 108315137 108315137 intronic 0.369909 0.43190510203743804 GWAS of prostate cancer rs2494067 1 108245615 108245615 intronic 0.360343 0.443283910099339 GWAS of prostate cancer rs7527291 1 108232390 108232390 intronic 0.334644 0.475416957274111 GWAS of prostate cancer rs10494076 1 108338327 108338327 intronic 0.322288 0.491755864611166 GWAS of prostate cancer rs4915077 1 108366016 108366016 intronic 0.309737 0.509006912382872 GWAS of prostate cancer rs4915076 1 108359505 108359505 intronic 0.299167 0.524086313576002 GWAS of prostate cancer rs1328199 1 108127895 108127895 intronic 0.290443 0.5369390860426579 GWAS of prostate cancer rs4636492 1 108343897 108343897 intronic 0.27221 0.565095924448459 GWAS of prostate cancer rs2504469 1 108218276 108218276 intronic 0.258725 0.587161604381757 GWAS of prostate cancer rs6583035 1 108186083 108186083 intronic 0.245241 0.61040692165263 GWAS of prostate cancer rs4466688 1 108207555 108207555 intronic 0.227834 0.64238146502183 GWAS of prostate cancer rs8676 1 108113865 108113865 UTR3 0.217151 0.663238166331768 GWAS of prostate cancer rs10494072 1 108218139 108218139 intronic 0.186325 0.729728870097712 GWAS of prostate cancer rs17020294 1 108441642 108441642 intronic 0.153815 0.813001310181037 GWAS of prostate cancer rs4914959 1 108319079 108319079 intronic 0.126077 0.89936413376114 GWAS of prostate cancer rs17020274 1 108430813 108430813 intronic 0.10291 0.987542421799226 GWAS of prostate cancer rs12410676 1 108185309 108185309 exonic 0.100196 0.999149615919898 GWAS of prostate cancer rs6583045 1 108286971 108286971 intronic 0.096876 1.01378380146896 GWAS of prostate cancer rs2335793 1 108143883 108143883 intronic 0.05124 1.29039087892735 GWAS of prostate cancer rs11808011 1 108300141 108300141 intronic 0.037178 1.42971397691825 GWAS of prostate cancer rs2494059 1 108239958 108239958 intronic 0.024826 1.60509324894597 GWAS of prostate cancer rs4415601 1 108304878 108304878 intronic 0.019917 1.7007760766334201 GWAS of prostate cancer rs4914950 1 108176287 108176287 intronic 0.01502 1.82333006733185 GWAS of prostate cancer rs11185141 1 108132879 108132879 intronic 0.008821 2.0544821779221603 GWAS of prostate cancer rs10494073 1 108258265 108258265 intronic 0.007648 2.11645212073196 GWAS of prostate cancer rs17019810 1 108268801 108268801 intronic 0.005512 2.25869079110043 GWAS of prostate cancer rs6674340 1 108273631 108273631 intronic 0.002698 2.56895805466411 GWAS of prostate cancer rs4503375 1 108250282 108250282 intronic 0.000467 3.33068311943389

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134215.15 VAV3 605541