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rs119471023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119471023(C;T)
Make rs119471023(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26468571
GeneHPS4
is asnp
is mentioned by
dbSNPrs119471023
ebirs119471023
HLIrs119471023
Exacrs119471023
Varsomers119471023
Maprs119471023
PheGenIrs119471023
hapmaprs119471023
1000 genomesrs119471023
hgdprs119471023
ensemblrs119471023
gopubmedrs119471023
geneviewrs119471023
scholarrs119471023
googlers119471023
pharmgkbrs119471023
gwascentralrs119471023
openSNPrs119471023
23andMers119471023
23andMe allrs119471023
SNP Nexus

SNPshotrs119471023
SNPdbers119471023
MSV3drs119471023
GWAS Ctlgrs119471023
Max Magnitude0
OMIM606682
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119471023(T;T)
Alt rs119471023(T;T)
Reference rs119471023(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.26864537G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004346.3,