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rs606231156

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231156(-;-)
Make rs606231156(-;G)
Make rs606231156(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position98427239
GeneHPS1
is asnp
is mentioned by
dbSNPrs606231156
ebirs606231156
HLIrs606231156
Exacrs606231156
Varsomers606231156
Maprs606231156
PheGenIrs606231156
hapmaprs606231156
1000 genomesrs606231156
hgdprs606231156
ensemblrs606231156
gopubmedrs606231156
geneviewrs606231156
scholarrs606231156
googlers606231156
pharmgkbrs606231156
gwascentralrs606231156
openSNPrs606231156
23andMers606231156
23andMe allrs606231156
SNP Nexus

SNPshotrs606231156
SNPdbers606231156
MSV3drs606231156
GWAS Ctlgrs606231156
Max Magnitude0
ClinVar
Risk rs606231156(G;G)
Alt rs606231156(G;G)
Reference rs606231156(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 1
HGVS NC_000010.10:g.100186997dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005600.5,