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rs121912757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912757(A;A)
Make rs121912757(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44254616
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912757
dbSNP (classic)rs121912757
ClinGenrs121912757
ebirs121912757
HLIrs121912757
Exacrs121912757
Gnomadrs121912757
Varsomers121912757
LitVarrs121912757
Maprs121912757
PheGenIrs121912757
Biobankrs121912757
1000 genomesrs121912757
hgdprs121912757
ensemblrs121912757
geneviewrs121912757
scholarrs121912757
googlers121912757
pharmgkbrs121912757
gwascentralrs121912757
openSNPrs121912757
23andMers121912757
SNPshotrs121912757
SNPdbers121912757
MSV3drs121912757
GWAS Ctlgrs121912757
Max Magnitude0
OMIM109270
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121912757(A;A)
Alt rs121912757(A;A)
Reference Rs121912757(G;G)
Significance Pathogenic
Disease SWANN BLOOD GROUP ANTIGEN
Variation info
Gene SLC4A1
CLNDBN SWANN BLOOD GROUP ANTIGEN
Reversed 1
HGVS NC_000017.10:g.42331984C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019360.28,