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

rs121908905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908905(A;T)
Make rs121908905(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78181545
GeneAP3B1
is asnp
is mentioned by
dbSNPrs121908905
ebirs121908905
HLIrs121908905
Exacrs121908905
Varsomers121908905
Maprs121908905
PheGenIrs121908905
hapmaprs121908905
1000 genomesrs121908905
hgdprs121908905
ensemblrs121908905
gopubmedrs121908905
geneviewrs121908905
scholarrs121908905
googlers121908905
pharmgkbrs121908905
gwascentralrs121908905
openSNPrs121908905
23andMers121908905
23andMe allrs121908905
SNP Nexus

SNPshotrs121908905
SNPdbers121908905
MSV3drs121908905
GWAS Ctlgrs121908905
Max Magnitude0
OMIM603401
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908905(G,T;G,T)
Alt rs121908905(G,T;G,T)
Reference rs121908905(A;A)
Significance Pathogenic
Disease Hermansky Pudlak syndrome 2
Variation info
Gene AP3B1
CLNDBN Hermansky Pudlak syndrome 2
Reversed 1
HGVS NC_000005.9:g.77477369T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006748.3,