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rs119471021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119471021(C;T)
Make rs119471021(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26457923
GeneHPS4
is asnp
is mentioned by
dbSNPrs119471021
ebirs119471021
HLIrs119471021
Exacrs119471021
Varsomers119471021
Maprs119471021
PheGenIrs119471021
hapmaprs119471021
1000 genomesrs119471021
hgdprs119471021
ensemblrs119471021
gopubmedrs119471021
geneviewrs119471021
scholarrs119471021
googlers119471021
pharmgkbrs119471021
gwascentralrs119471021
openSNPrs119471021
23andMers119471021
23andMe allrs119471021
SNP Nexus

SNPshotrs119471021
SNPdbers119471021
MSV3drs119471021
GWAS Ctlgrs119471021
Max Magnitude0
OMIM606682
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119471021(T;T)
Alt rs119471021(T;T)
Reference rs119471021(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.26853889G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004341.1,