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rs121912741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912741(A;A)
Make rs121912741(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251588
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912741
ebirs121912741
HLIrs121912741
Exacrs121912741
Varsomers121912741
Maprs121912741
PheGenIrs121912741
hapmaprs121912741
1000 genomesrs121912741
hgdprs121912741
ensemblrs121912741
gopubmedrs121912741
geneviewrs121912741
scholarrs121912741
googlers121912741
pharmgkbrs121912741
gwascentralrs121912741
openSNPrs121912741
23andMers121912741
23andMe allrs121912741
SNP Nexus

SNPshotrs121912741
SNPdbers121912741
MSV3drs121912741
GWAS Ctlgrs121912741
Max Magnitude0
OMIM109270
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912741(A;A)
Alt rs121912741(A;A)
Reference rs121912741(G;G)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42328956C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019337.29,