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rs281865108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs281865108(-;C)
Make rs281865108(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position102065712
GeneHPS6
is asnp
is mentioned by
dbSNPrs281865108
dbSNP (classic)rs281865108
ClinGenrs281865108
ebirs281865108
HLIrs281865108
Exacrs281865108
Gnomadrs281865108
Varsomers281865108
LitVarrs281865108
Maprs281865108
PheGenIrs281865108
Biobankrs281865108
1000 genomesrs281865108
hgdprs281865108
ensemblrs281865108
geneviewrs281865108
scholarrs281865108
googlers281865108
pharmgkbrs281865108
gwascentralrs281865108
openSNPrs281865108
23andMers281865108
SNPshotrs281865108
SNPdbers281865108
MSV3drs281865108
GWAS Ctlgrs281865108
Max Magnitude0
ClinVar
Risk rs281865108(C;C)
Alt rs281865108(C;C)
Reference Rs281865108(-;-)
Significance Probable-Pathogenic
Disease Hermansky-Pudlak syndrome 6
Variation info
Gene HPS6
CLNDBN Hermansky-Pudlak syndrome 6
Reversed 1
HGVS NC_000010.10:g.103825469dupG
CLNSRC
CLNACC RCV000190593.1,