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rs869312836

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312836(-;-)
Make rs869312836(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position78129204
GeneAP3B1
is asnp
is mentioned by
dbSNPrs869312836
ebirs869312836
HLIrs869312836
Exacrs869312836
Varsomers869312836
Maprs869312836
PheGenIrs869312836
hapmaprs869312836
1000 genomesrs869312836
hgdprs869312836
ensemblrs869312836
gopubmedrs869312836
geneviewrs869312836
scholarrs869312836
googlers869312836
pharmgkbrs869312836
gwascentralrs869312836
openSNPrs869312836
23andMers869312836
23andMe allrs869312836
SNP Nexus

SNPshotrs869312836
SNPdbers869312836
MSV3drs869312836
GWAS Ctlgrs869312836
Max Magnitude0
ClinVar
Risk rs869312836(;)
Alt rs869312836(;)
Reference rs869312836(T;T)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77425028delA
CLNSRC
CLNACC RCV000210297.1,