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rs281865116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865116(-;-)
Make rs281865116(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position45179744
GeneBLOC1S3, TRAPPC6A
is asnp
is mentioned by
dbSNPrs281865116
ebirs281865116
HLIrs281865116
Exacrs281865116
Varsomers281865116
Maprs281865116
PheGenIrs281865116
hapmaprs281865116
1000 genomesrs281865116
hgdprs281865116
ensemblrs281865116
gopubmedrs281865116
geneviewrs281865116
scholarrs281865116
googlers281865116
pharmgkbrs281865116
gwascentralrs281865116
openSNPrs281865116
23andMers281865116
23andMe allrs281865116
SNP Nexus

SNPshotrs281865116
SNPdbers281865116
MSV3drs281865116
GWAS Ctlgrs281865116
Max Magnitude0
ClinVar
Risk rs281865116(;)
Alt rs281865116(;)
Reference rs281865116(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 8
Variation info
Gene BLOC1S3 TRAPPC6A
CLNDBN Hermansky-Pudlak syndrome 8
Reversed 0
HGVS NC_000019.9:g.45683002delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001554.1,