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rs786205464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205464(A;A)
Make rs786205464(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position98424315
GeneHPS1
is asnp
is mentioned by
dbSNPrs786205464
dbSNP (classic)rs786205464
ClinGenrs786205464
ebirs786205464
HLIrs786205464
Exacrs786205464
Gnomadrs786205464
Varsomers786205464
LitVarrs786205464
Maprs786205464
PheGenIrs786205464
Biobankrs786205464
1000 genomesrs786205464
hgdprs786205464
ensemblrs786205464
geneviewrs786205464
scholarrs786205464
googlers786205464
pharmgkbrs786205464
gwascentralrs786205464
openSNPrs786205464
23andMers786205464
SNPshotrs786205464
SNPdbers786205464
MSV3drs786205464
GWAS Ctlgrs786205464
Max Magnitude0
ClinVar
Risk rs786205464(A;A)
Alt rs786205464(A;A)
Reference Rs786205464(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene HPS1
CLNDBN not provided
Reversed 1
HGVS NC_000010.10:g.100184072C>T
CLNSRC
CLNACC RCV000171188.1,