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rs762730861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs762730861(C;T)
Make rs762730861(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34254347
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs762730861
dbSNP (classic)rs762730861
ClinGenrs762730861
ebirs762730861
HLIrs762730861
Exacrs762730861
Gnomadrs762730861
Varsomers762730861
LitVarrs762730861
Maprs762730861
PheGenIrs762730861
Biobankrs762730861
1000 genomesrs762730861
hgdprs762730861
ensemblrs762730861
geneviewrs762730861
scholarrs762730861
googlers762730861
pharmgkbrs762730861
gwascentralrs762730861
openSNPrs762730861
23andMers762730861
SNPshotrs762730861
SNPdbers762730861
MSV3drs762730861
GWAS Ctlgrs762730861
Max Magnitude0
ClinVar
Risk rs762730861(T;T)
Alt rs762730861(T;T)
Reference Rs762730861(C;C)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34546548C>T
CLNSRC
CLNACC RCV000412092.1,