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rs1057516752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGCT;AAGCT) 0 common in clinvar
Make rs1057516752(-;-)
Make rs1057516752(-;AAGCT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34235234
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057516752
dbSNP (old)rs1057516752
ClinGenrs1057516752
ebirs1057516752
HLIrs1057516752
Exacrs1057516752
Gnomadrs1057516752
Varsomers1057516752
Maprs1057516752
PheGenIrs1057516752
Biobankrs1057516752
1000 genomesrs1057516752
hgdprs1057516752
ensemblrs1057516752
gopubmedrs1057516752
geneviewrs1057516752
scholarrs1057516752
googlers1057516752
pharmgkbrs1057516752
gwascentralrs1057516752
openSNPrs1057516752
23andMers1057516752
23andMe allrs1057516752
SNPshotrs1057516752
SNPdbers1057516752
MSV3drs1057516752
GWAS Ctlgrs1057516752
Max Magnitude0
ClinVar
Risk rs1057516752(-;-)
Alt rs1057516752(-;-)
Reference Rs1057516752(AAGCT;AAGCT)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34527435_34527439delAGCTT
CLNSRC
CLNACC RCV000409972.1,