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rs138943405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138943405(A;A)
Make rs138943405(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position160042457
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs138943405
dbSNP (classic)rs138943405
ClinGenrs138943405
ebirs138943405
HLIrs138943405
Exacrs138943405
Gnomadrs138943405
Varsomers138943405
LitVarrs138943405
Maprs138943405
PheGenIrs138943405
Biobankrs138943405
1000 genomesrs138943405
hgdprs138943405
ensemblrs138943405
geneviewrs138943405
scholarrs138943405
googlers138943405
pharmgkbrs138943405
gwascentralrs138943405
openSNPrs138943405
23andMers138943405
SNPshotrs138943405
SNPdbers138943405
MSV3drs138943405
GWAS Ctlgrs138943405
Max Magnitude0
ClinVar
Risk rs138943405(A;A)
Alt rs138943405(A;A)
Reference Rs138943405(G;G)
Significance Probable-Pathogenic
Disease SeSAME syndrome KCNJ10-Related Disorders
Variation info
Gene KCNJ10
CLNDBN SeSAME syndrome KCNJ10-Related Disorders
Reversed 0
HGVS NC_000001.10:g.160012247G>A
CLNSRC
CLNACC RCV000193637.1, RCV000319701.1,