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rs119471025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119471025(G;T)
Make rs119471025(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26468556
GeneHPS4
is asnp
is mentioned by
dbSNPrs119471025
ebirs119471025
HLIrs119471025
Exacrs119471025
Varsomers119471025
Maprs119471025
PheGenIrs119471025
hapmaprs119471025
1000 genomesrs119471025
hgdprs119471025
ensemblrs119471025
gopubmedrs119471025
geneviewrs119471025
scholarrs119471025
googlers119471025
pharmgkbrs119471025
gwascentralrs119471025
openSNPrs119471025
23andMers119471025
23andMe allrs119471025
SNP Nexus

SNPshotrs119471025
SNPdbers119471025
MSV3drs119471025
GWAS Ctlgrs119471025
Max Magnitude0
OMIM606682
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119471025(T;T)
Alt rs119471025(T;T)
Reference rs119471025(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26864522C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004348.3,