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rs201227603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201227603(C;T)
Make rs201227603(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149145547
GeneHPS3
is asnp
is mentioned by
dbSNPrs201227603
ebirs201227603
HLIrs201227603
Exacrs201227603
Varsomers201227603
Maprs201227603
PheGenIrs201227603
hapmaprs201227603
1000 genomesrs201227603
hgdprs201227603
ensemblrs201227603
gopubmedrs201227603
geneviewrs201227603
scholarrs201227603
googlers201227603
pharmgkbrs201227603
gwascentralrs201227603
openSNPrs201227603
23andMers201227603
23andMe allrs201227603
SNP Nexus

SNPshotrs201227603
SNPdbers201227603
MSV3drs201227603
GWAS Ctlgrs201227603
Max Magnitude0
ClinVar
Risk rs201227603(T;T)
Alt rs201227603(T;T)
Reference rs201227603(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 3
Variation info
Gene HPS3
CLNDBN Hermansky-Pudlak syndrome 3
Reversed 1
HGVS NC_000003.11:g.148863334G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004872.3,