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rs281865099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865099(-;-)
Make rs281865099(-;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position26457948
GeneHPS4
is asnp
is mentioned by
dbSNPrs281865099
ebirs281865099
HLIrs281865099
Exacrs281865099
Varsomers281865099
Maprs281865099
PheGenIrs281865099
hapmaprs281865099
1000 genomesrs281865099
hgdprs281865099
ensemblrs281865099
gopubmedrs281865099
geneviewrs281865099
scholarrs281865099
googlers281865099
pharmgkbrs281865099
gwascentralrs281865099
openSNPrs281865099
23andMers281865099
23andMe allrs281865099
SNP Nexus

SNPshotrs281865099
SNPdbers281865099
MSV3drs281865099
GWAS Ctlgrs281865099
Max Magnitude0
ClinVar
Risk rs281865099(;)
Alt rs281865099(;)
Reference rs281865099(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26853914delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020868.1,