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rs869312839

From SNPedia

Orientationminus
Geno Mag Summary
(TAGA;TAGA) 0 common in clinvar
Make rs869312839(-;-)
Make rs869312839(-;TAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position78128156
GeneAP3B1
is asnp
is mentioned by
dbSNPrs869312839
ebirs869312839
HLIrs869312839
Exacrs869312839
Varsomers869312839
Maprs869312839
PheGenIrs869312839
hapmaprs869312839
1000 genomesrs869312839
hgdprs869312839
ensemblrs869312839
gopubmedrs869312839
geneviewrs869312839
scholarrs869312839
googlers869312839
pharmgkbrs869312839
gwascentralrs869312839
openSNPrs869312839
23andMers869312839
23andMe allrs869312839
SNP Nexus

SNPshotrs869312839
SNPdbers869312839
MSV3drs869312839
GWAS Ctlgrs869312839
Max Magnitude0
ClinVar
Risk rs869312839(;)
Alt rs869312839(;)
Reference rs869312839(TAGA;TAGA)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77423980_77423983delTCTA
CLNSRC
CLNACC RCV000210304.1,