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rs869312835

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312835(C;G)
Make rs869312835(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position78039150
GeneAP3B1
is asnp
is mentioned by
dbSNPrs869312835
ebirs869312835
HLIrs869312835
Exacrs869312835
Varsomers869312835
Maprs869312835
PheGenIrs869312835
hapmaprs869312835
1000 genomesrs869312835
hgdprs869312835
ensemblrs869312835
gopubmedrs869312835
geneviewrs869312835
scholarrs869312835
googlers869312835
pharmgkbrs869312835
gwascentralrs869312835
openSNPrs869312835
23andMers869312835
23andMe allrs869312835
SNP Nexus

SNPshotrs869312835
SNPdbers869312835
MSV3drs869312835
GWAS Ctlgrs869312835
Max Magnitude0
ClinVar
Risk rs869312835(G;G)
Alt rs869312835(G;G)
Reference rs869312835(C;C)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77334974G>C
CLNSRC
CLNACC RCV000210287.1,