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rs869312837

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312837(A;A)
Make rs869312837(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position78216125
GeneAP3B1
is asnp
is mentioned by
dbSNPrs869312837
ebirs869312837
HLIrs869312837
Exacrs869312837
Varsomers869312837
Maprs869312837
PheGenIrs869312837
hapmaprs869312837
1000 genomesrs869312837
hgdprs869312837
ensemblrs869312837
gopubmedrs869312837
geneviewrs869312837
scholarrs869312837
googlers869312837
pharmgkbrs869312837
gwascentralrs869312837
openSNPrs869312837
23andMers869312837
23andMe allrs869312837
SNP Nexus

SNPshotrs869312837
SNPdbers869312837
MSV3drs869312837
GWAS Ctlgrs869312837
Max Magnitude0
ClinVar
Risk rs869312837(A;A)
Alt rs869312837(A;A)
Reference rs869312837(G;G)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77511949C>T
CLNSRC
CLNACC RCV000210320.1,