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rs121912750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912750(A;G)
Make rs121912750(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44251305
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912750
ebirs121912750
HLIrs121912750
Exacrs121912750
Varsomers121912750
Maprs121912750
PheGenIrs121912750
hapmaprs121912750
1000 genomesrs121912750
hgdprs121912750
ensemblrs121912750
gopubmedrs121912750
geneviewrs121912750
scholarrs121912750
googlers121912750
pharmgkbrs121912750
gwascentralrs121912750
openSNPrs121912750
23andMers121912750
23andMe allrs121912750
SNP Nexus

SNPshotrs121912750
SNPdbers121912750
MSV3drs121912750
GWAS Ctlgrs121912750
Max Magnitude0
OMIM109270
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121912750(G;G)
Alt rs121912750(G;G)
Reference rs121912750(A;A)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42328673T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019347.24,