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rs121912742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912742(C;T)
Make rs121912742(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44258512
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912742
ebirs121912742
HLIrs121912742
Exacrs121912742
Varsomers121912742
Maprs121912742
PheGenIrs121912742
hapmaprs121912742
1000 genomesrs121912742
hgdprs121912742
ensemblrs121912742
gopubmedrs121912742
geneviewrs121912742
scholarrs121912742
googlers121912742
pharmgkbrs121912742
gwascentralrs121912742
openSNPrs121912742
23andMers121912742
23andMe allrs121912742
SNP Nexus

SNPshotrs121912742
SNPdbers121912742
MSV3drs121912742
GWAS Ctlgrs121912742
Max Magnitude0
OMIM109270
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912742(T;T)
Alt rs121912742(T;T)
Reference rs121912742(C;C)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42335880G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019338.24,