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rs281865112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865112(A;A)
Make rs281865112(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position102066708
GeneHPS6
is asnp
is mentioned by
dbSNPrs281865112
dbSNP (classic)rs281865112
ClinGenrs281865112
ebirs281865112
HLIrs281865112
Exacrs281865112
Gnomadrs281865112
Varsomers281865112
LitVarrs281865112
Maprs281865112
PheGenIrs281865112
Biobankrs281865112
1000 genomesrs281865112
hgdprs281865112
ensemblrs281865112
geneviewrs281865112
scholarrs281865112
googlers281865112
pharmgkbrs281865112
gwascentralrs281865112
openSNPrs281865112
23andMers281865112
SNPshotrs281865112
SNPdbers281865112
MSV3drs281865112
GWAS Ctlgrs281865112
Max Magnitude0
ClinVar
Risk rs281865112(A;A)
Alt rs281865112(A;A)
Reference Rs281865112(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 6
Variation info
Gene HPS6
CLNDBN Hermansky-Pudlak syndrome 6
Reversed 1
HGVS NC_000010.10:g.103826465C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023654.4,