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rs281865113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
(GACA;GACA) 0 common in clinvar
Make rs281865113(-;-)
Make rs281865113(-;AGAC)
ReferenceGRCh38 38.1/141
Chromosome10
Position102067187
GeneHPS6
is asnp
is mentioned by
dbSNPrs281865113
ebirs281865113
HLIrs281865113
Exacrs281865113
Varsomers281865113
Maprs281865113
PheGenIrs281865113
hapmaprs281865113
1000 genomesrs281865113
hgdprs281865113
ensemblrs281865113
gopubmedrs281865113
geneviewrs281865113
scholarrs281865113
googlers281865113
pharmgkbrs281865113
gwascentralrs281865113
openSNPrs281865113
23andMers281865113
23andMe allrs281865113
SNP Nexus

SNPshotrs281865113
SNPdbers281865113
MSV3drs281865113
GWAS Ctlgrs281865113
Max Magnitude0
ClinVar
Risk rs281865113(;)
Alt rs281865113(;)
Reference rs281865113(GACA;GACA)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 6
Variation info
Gene HPS6
CLNDBN Hermansky-Pudlak syndrome 6
Reversed 1
HGVS NC_000010.10:g.103826944_103826947delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003301.1,