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rs863223278

From SNPedia

Orientationminus
Make rs863223278(-;-)
Make rs863223278(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position26479340
GeneHPS4
is asnp
is mentioned by
dbSNPrs863223278
ebirs863223278
HLIrs863223278
Exacrs863223278
Varsomers863223278
Maprs863223278
PheGenIrs863223278
hapmaprs863223278
1000 genomesrs863223278
hgdprs863223278
ensemblrs863223278
gopubmedrs863223278
geneviewrs863223278
scholarrs863223278
googlers863223278
pharmgkbrs863223278
gwascentralrs863223278
openSNPrs863223278
23andMers863223278
23andMe allrs863223278
SNP Nexus

SNPshotrs863223278
SNPdbers863223278
MSV3drs863223278
GWAS Ctlgrs863223278
Max Magnitude
ClinVar
Risk rs863223278(;)
Alt rs863223278(;)
Reference rs863223278(T;T)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26875306delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004343.3,