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rs121908907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908907(G;T)
Make rs121908907(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78116228
GeneAP3B1
is asnp
is mentioned by
dbSNPrs121908907
ebirs121908907
HLIrs121908907
Exacrs121908907
Varsomers121908907
Maprs121908907
PheGenIrs121908907
hapmaprs121908907
1000 genomesrs121908907
hgdprs121908907
ensemblrs121908907
gopubmedrs121908907
geneviewrs121908907
scholarrs121908907
googlers121908907
pharmgkbrs121908907
gwascentralrs121908907
openSNPrs121908907
23andMers121908907
23andMe allrs121908907
SNP Nexus

SNPshotrs121908907
SNPdbers121908907
MSV3drs121908907
GWAS Ctlgrs121908907
Max Magnitude0
OMIM603401
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908907(T;T)
Alt rs121908907(T;T)
Reference rs121908907(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.77412052C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006750.3,