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rs573444140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs573444140(A;A)
Make rs573444140(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34275363
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs573444140
dbSNP (classic)rs573444140
ClinGenrs573444140
ebirs573444140
HLIrs573444140
Exacrs573444140
Gnomadrs573444140
Varsomers573444140
LitVarrs573444140
Maprs573444140
PheGenIrs573444140
Biobankrs573444140
1000 genomesrs573444140
hgdprs573444140
ensemblrs573444140
geneviewrs573444140
scholarrs573444140
googlers573444140
pharmgkbrs573444140
gwascentralrs573444140
openSNPrs573444140
23andMers573444140
SNPshotrs573444140
SNPdbers573444140
MSV3drs573444140
GWAS Ctlgrs573444140
Max Magnitude0
ClinVar
Risk rs573444140(A;A) rs573444140(G;G)
Alt rs573444140(A;A) rs573444140(G;G)
Reference Rs573444140(C;C)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34567564C>A
CLNSRC
CLNACC RCV000409255.1,