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rs397507168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507168(A;G)
Make rs397507168(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149163840
GeneHPS3
is asnp
is mentioned by
dbSNPrs397507168
ebirs397507168
HLIrs397507168
Exacrs397507168
Varsomers397507168
Maprs397507168
PheGenIrs397507168
hapmaprs397507168
1000 genomesrs397507168
hgdprs397507168
ensemblrs397507168
gopubmedrs397507168
geneviewrs397507168
scholarrs397507168
googlers397507168
pharmgkbrs397507168
gwascentralrs397507168
openSNPrs397507168
23andMers397507168
23andMe allrs397507168
SNP Nexus

SNPshotrs397507168
SNPdbers397507168
MSV3drs397507168
GWAS Ctlgrs397507168
Max Magnitude0
ClinVar
Risk rs397507168(G;G)
Alt rs397507168(G;G)
Reference rs397507168(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 3
Variation info
Gene HPS3 CP
CLNDBN Hermansky-Pudlak syndrome 3
Reversed 0
HGVS NC_000003.11:g.148881627A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004874.4,