iUUCD 2.0 - integrated annotations for ubiquitin and ubiquitin-like conjugation database

Disease associated variation - ClinVar
Allele ID	Type	Name	RS#dbSNP	Phenotype IDs	Chromosome	Start	Stop	Reference	Alternate
51106	single nucleotide variant	NM_021629.3(GNB4):c.158G>A (p.Gly53Asp)	387907340	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179137232	179137232	C	T
51106	single nucleotide variant	NM_021629.3(GNB4):c.158G>A (p.Gly53Asp)	387907340	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179419444	179419444	C	T
51107	single nucleotide variant	NM_021629.3(GNB4):c.265A>G (p.Lys89Glu)	387907341	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179134283	179134283	T	C
51107	single nucleotide variant	NM_021629.3(GNB4):c.265A>G (p.Lys89Glu)	387907341	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179416495	179416495	T	C
221371	single nucleotide variant	NM_021629.3(GNB4):c.196G>A (p.Asp66Asn)	864622729	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179419406	179419406	C	T
221371	single nucleotide variant	NM_021629.3(GNB4):c.196G>A (p.Asp66Asn)	864622729	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179137194	179137194	C	T
239118	single nucleotide variant	NM_021629.3(GNB4):c.771A>G (p.Ala257=)	878855069	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179405335	179405335	T	C
239118	single nucleotide variant	NM_021629.3(GNB4):c.771A>G (p.Ala257=)	878855069	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	3	179123123	179123123	T	C
251015	single nucleotide variant	NM_021629.3(GNB4):c.*3G>A	3774225	MedGen:CN169374	3	179118998	179118998	C	T
251015	single nucleotide variant	NM_021629.3(GNB4):c.*3G>A	3774225	MedGen:CN169374	3	179401210	179401210	C	T
251016	single nucleotide variant	NM_021629.3(GNB4):c.117T>C (p.Ser39=)	1362650	MedGen:CN169374	3	179137273	179137273	A	G
251016	single nucleotide variant	NM_021629.3(GNB4):c.117T>C (p.Ser39=)	1362650	MedGen:CN169374	3	179419485	179419485	A	G

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
3	179144739	rs7618348	C	T	rs7618348	1.16E-04			Alzheimer's disease (late onset)	HPOID:0002511	DOID:10652	T	intron	GWASdb_trait
3	179163520	rs1344538	G	A	rs1344538	2.50E-05			Urinary metabolites	HPOID:0000079	DOID:557	C	intron	GWASdb_trait

Disease associated variation - OMIM
Ensembl_gene_ID	Approved Gene Symbol	MIM Number
ENSG00000114450.9	GNB4	610863