Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853072(C;C)
Make rs137853072(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position160042304
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs137853072
dbSNP (classic)rs137853072
ClinGenrs137853072
ebirs137853072
HLIrs137853072
Exacrs137853072
Gnomadrs137853072
Varsomers137853072
LitVarrs137853072
Maprs137853072
PheGenIrs137853072
Biobankrs137853072
1000 genomesrs137853072
hgdprs137853072
ensemblrs137853072
geneviewrs137853072
scholarrs137853072
googlers137853072
pharmgkbrs137853072
gwascentralrs137853072
openSNPrs137853072
23andMers137853072
SNPshotrs137853072
SNPdbers137853072
MSV3drs137853072
GWAS Ctlgrs137853072
Max Magnitude0
OMIM602208
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853072(C;C)
Alt rs137853072(C;C)
Reference Rs137853072(G;G)
Significance Pathogenic
Disease SeSAME syndrome
Variation info
Gene KCNJ10
CLNDBN SeSAME syndrome
Reversed 1
HGVS NC_000001.10:g.160012094C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007894.4,