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rs119471022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119471022(C;T)
Make rs119471022(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26470774
GeneHPS4
is asnp
is mentioned by
dbSNPrs119471022
ebirs119471022
HLIrs119471022
Exacrs119471022
Varsomers119471022
Maprs119471022
PheGenIrs119471022
hapmaprs119471022
1000 genomesrs119471022
hgdprs119471022
ensemblrs119471022
gopubmedrs119471022
geneviewrs119471022
scholarrs119471022
googlers119471022
pharmgkbrs119471022
gwascentralrs119471022
openSNPrs119471022
23andMers119471022
23andMe allrs119471022
SNP Nexus

SNPshotrs119471022
SNPdbers119471022
MSV3drs119471022
GWAS Ctlgrs119471022
Max Magnitude0
OMIM606682
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119471022(A,T;A,T)
Alt rs119471022(A,T;A,T)
Reference rs119471022(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26866740G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004344.1,



[PMID 23563589] An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients