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rs121912749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912749(A;A)
Make rs121912749(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44260501
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs121912749
ebirs121912749
HLIrs121912749
Exacrs121912749
Varsomers121912749
Maprs121912749
PheGenIrs121912749
hapmaprs121912749
1000 genomesrs121912749
hgdprs121912749
ensemblrs121912749
gopubmedrs121912749
geneviewrs121912749
scholarrs121912749
googlers121912749
pharmgkbrs121912749
gwascentralrs121912749
openSNPrs121912749
23andMers121912749
23andMe allrs121912749
SNP Nexus

SNPshotrs121912749
SNPdbers121912749
MSV3drs121912749
GWAS Ctlgrs121912749
Max Magnitude0

[PMID 27120077] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.

OMIM109270
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912749(A;A)
Alt rs121912749(A;A)
Reference rs121912749(G;G)
Significance Pathogenic
Disease Spherocytosis type 4
Variation info
Gene SLC4A1
CLNDBN Spherocytosis type 4
Reversed 1
HGVS NC_000017.10:g.42337869C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019346.28,