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rs1057517334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAGCATATA;TCAGCATATA) 0 common in clinvar
Make rs1057517334(-;-)
Make rs1057517334(-;TCAGCATATA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34236791
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs1057517334
dbSNP (classic)rs1057517334
ClinGenrs1057517334
ebirs1057517334
HLIrs1057517334
Exacrs1057517334
Gnomadrs1057517334
Varsomers1057517334
LitVarrs1057517334
Maprs1057517334
PheGenIrs1057517334
Biobankrs1057517334
1000 genomesrs1057517334
hgdprs1057517334
ensemblrs1057517334
geneviewrs1057517334
scholarrs1057517334
googlers1057517334
pharmgkbrs1057517334
gwascentralrs1057517334
openSNPrs1057517334
23andMers1057517334
23andMe allrs1057517334
SNPshotrs1057517334
SNPdbers1057517334
MSV3drs1057517334
GWAS Ctlgrs1057517334
Max Magnitude0
ClinVar
Risk rs1057517334(-;-)
Alt rs1057517334(-;-)
Reference Rs1057517334(TCAGCATATA;TCAGCATATA)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528992_34529001delTATATGCTGA
CLNSRC
CLNACC RCV000409518.1,