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rs869312838

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312838(-;-)
Make rs869312838(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position78267547
GeneAP3B1
is asnp
is mentioned by
dbSNPrs869312838
ebirs869312838
HLIrs869312838
Exacrs869312838
Varsomers869312838
Maprs869312838
PheGenIrs869312838
hapmaprs869312838
1000 genomesrs869312838
hgdprs869312838
ensemblrs869312838
gopubmedrs869312838
geneviewrs869312838
scholarrs869312838
googlers869312838
pharmgkbrs869312838
gwascentralrs869312838
openSNPrs869312838
23andMers869312838
23andMe allrs869312838
SNP Nexus

SNPshotrs869312838
SNPdbers869312838
MSV3drs869312838
GWAS Ctlgrs869312838
Max Magnitude0
ClinVar
Risk rs869312838(;)
Alt rs869312838(;)
Reference rs869312838(A;A)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77563371delT
CLNSRC
CLNACC RCV000210288.1,