Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908906(C;T)
Make rs121908906(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78141268
GeneAP3B1
is asnp
is mentioned by
dbSNPrs121908906
ClinGenrs121908906
ebirs121908906
HLIrs121908906
Exacrs121908906
Varsomers121908906
Maprs121908906
PheGenIrs121908906
hapmaprs121908906
1000 genomesrs121908906
hgdprs121908906
ensemblrs121908906
gopubmedrs121908906
geneviewrs121908906
scholarrs121908906
googlers121908906
pharmgkbrs121908906
gwascentralrs121908906
openSNPrs121908906
23andMers121908906
23andMe allrs121908906
SNP Nexus

SNPshotrs121908906
SNPdbers121908906
MSV3drs121908906
GWAS Ctlgrs121908906
Max Magnitude0
OMIM603401
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908906(T;T)
Alt rs121908906(T;T)
Reference Rs121908906(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.77437092G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006749.3,