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rs121908904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908904(G;G)
Make rs121908904(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78129219
GeneAP3B1
is asnp
is mentioned by
dbSNPrs121908904
ebirs121908904
HLIrs121908904
Exacrs121908904
Varsomers121908904
Maprs121908904
PheGenIrs121908904
hapmaprs121908904
1000 genomesrs121908904
hgdprs121908904
ensemblrs121908904
gopubmedrs121908904
geneviewrs121908904
scholarrs121908904
googlers121908904
pharmgkbrs121908904
gwascentralrs121908904
openSNPrs121908904
23andMers121908904
23andMe allrs121908904
SNP Nexus

SNPshotrs121908904
SNPdbers121908904
MSV3drs121908904
GWAS Ctlgrs121908904
Max Magnitude0
OMIM603401
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908904(G;G)
Alt rs121908904(G;G)
Reference rs121908904(T;T)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77425043A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006744.3,