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rs281865103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
(TAAC;TAAC) 0 common in clinvar
Make rs281865103(-;-)
Make rs281865103(-;TCAA)
Make rs281865103(TCAA;TCAA)
ReferenceGRCh38 38.1/141
Chromosome11
Position18291854
GeneHPS5
is asnp
is mentioned by
dbSNPrs281865103
ClinGenrs281865103
ebirs281865103
HLIrs281865103
Exacrs281865103
Varsomers281865103
Maprs281865103
PheGenIrs281865103
hapmaprs281865103
1000 genomesrs281865103
hgdprs281865103
ensemblrs281865103
gopubmedrs281865103
geneviewrs281865103
scholarrs281865103
googlers281865103
pharmgkbrs281865103
gwascentralrs281865103
openSNPrs281865103
23andMers281865103
23andMe allrs281865103
SNP Nexus

SNPshotrs281865103
SNPdbers281865103
MSV3drs281865103
GWAS Ctlgrs281865103
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs281865103(TAAC;TAAC)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 0
HGVS NC_000011.9:g.18313401_18313404delAACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003302.1,