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rs606231158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGATGCTCC;CAGATGCTCC) 0 common in clinvar
Make rs606231158(-;-)
Make rs606231158(-;CCAGATGCTC)
Make rs606231158(CCAGATGCTC;CCAGATGCTC)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34236747
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs606231158
dbSNP (old)rs606231158
ClinGenrs606231158
ebirs606231158
HLIrs606231158
Exacrs606231158
Gnomadrs606231158
Varsomers606231158
Maprs606231158
PheGenIrs606231158
Biobankrs606231158
1000 genomesrs606231158
hgdprs606231158
ensemblrs606231158
gopubmedrs606231158
geneviewrs606231158
scholarrs606231158
googlers606231158
pharmgkbrs606231158
gwascentralrs606231158
openSNPrs606231158
23andMers606231158
23andMe allrs606231158
SNP Nexus

SNPshotrs606231158
SNPdbers606231158
MSV3drs606231158
GWAS Ctlgrs606231158
Max Magnitude0
ClinVar
Risk rs606231158(-;-)
Alt rs606231158(-;-)
Reference Rs606231158(CAGATGCTCC;CAGATGCTCC)
Significance Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528948_34528957delGAGCATCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005658.4,