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rs119471024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119471024(G;T)
Make rs119471024(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26472391
GeneHPS4
is asnp
is mentioned by
dbSNPrs119471024
ebirs119471024
HLIrs119471024
Exacrs119471024
Varsomers119471024
Maprs119471024
PheGenIrs119471024
hapmaprs119471024
1000 genomesrs119471024
hgdprs119471024
ensemblrs119471024
gopubmedrs119471024
geneviewrs119471024
scholarrs119471024
googlers119471024
pharmgkbrs119471024
gwascentralrs119471024
openSNPrs119471024
23andMers119471024
23andMe allrs119471024
SNP Nexus

SNPshotrs119471024
SNPdbers119471024
MSV3drs119471024
GWAS Ctlgrs119471024
Max Magnitude0
OMIM606682
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119471024(T;T)
Alt rs119471024(T;T)
Reference rs119471024(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.26868357C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004347.4,