Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 157535 copy number gain GRCh38/hg38 Xq21.31(chrX:87173532-88102126)x2 -1 - X 86428535 87357127 na na 157535 copy number gain GRCh38/hg38 Xq21.31(chrX:87173532-88102126)x2 -1 - X 87173532 88102126 na na 157535 copy number gain GRCh38/hg38 Xq21.31(chrX:87173532-88102126)x2 -1 - X 86315191 87243783 na na 164004 copy number gain GRCh38/hg38 Xq21.31(chrX:87322232-87861309)x2 -1 - X 86577235 87116309 na na 164004 copy number gain GRCh38/hg38 Xq21.31(chrX:87322232-87861309)x2 -1 - X 87322232 87861309 na na 164004 copy number gain GRCh38/hg38 Xq21.31(chrX:87322232-87861309)x2 -1 - X 86463891 87002965 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 X 86811737 rs4631605 C T rs4631605 5.97E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_drug X 86813262 rs5924051 G A rs5924051 7.60E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug X 86852223 rs5967860 G A rs5967860 1.18E-05 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug X 86791477 rs5969240 A G rs5969240 1.19E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait X 86811737 rs4631605 C T rs4631605 5.97E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_trait X 86813262 rs5924051 G A rs5924051 7.60E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait X 86822508 rs2051622 G A rs2051622 2.42E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 T intron GWASdb_trait X 86852223 rs5967860 G A rs5967860 1.18E-05 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 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 rs222109 X 86910623 86910623 intronic 0.814899 0.0888962151383476 GWAS of prostate cancer rs222108 X 86910110 86910110 intronic 0.719918 0.142716967701487 GWAS of prostate cancer rs2051622 X 86822508 86822508 intronic 0.712662 0.147116397692859 GWAS of prostate cancer rs6652461 X 86850516 86850516 intronic 0.547326 0.261753920780704 GWAS of prostate cancer rs5924066 X 86872653 86872653 intronic 0.249361 0.603171469098192 GWAS of prostate cancer rs5924058 X 86862429 86862429 intronic 0.076355 1.1171625185118201 GWAS of prostate cancer rs5969256 X 86813356 86813356 intronic 0.058024 1.2363923355463098

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000102271.13 KLHL4 300348