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

rs121912758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912758(C;T)
Make rs121912758(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44254617
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912758
dbSNP (classic)rs121912758
ClinGenrs121912758
ebirs121912758
HLIrs121912758
Exacrs121912758
Gnomadrs121912758
Varsomers121912758
LitVarrs121912758
Maprs121912758
PheGenIrs121912758
Biobankrs121912758
1000 genomesrs121912758
hgdprs121912758
ensemblrs121912758
geneviewrs121912758
scholarrs121912758
googlers121912758
pharmgkbrs121912758
gwascentralrs121912758
openSNPrs121912758
23andMers121912758
SNPshotrs121912758
SNPdbers121912758
MSV3drs121912758
GWAS Ctlgrs121912758
Max Magnitude0
OMIM109270
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121912758(A;A) rs121912758(T;T)
Alt rs121912758(A;A) rs121912758(T;T)
Reference Rs121912758(C;C)
Significance Pathogenic
Disease SWANN BLOOD GROUP ANTIGEN
Variation info
Gene SLC4A1
CLNDBN SWANN BLOOD GROUP ANTIGEN
Reversed 1
HGVS NC_000017.10:g.42331985G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019352.29,