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rs193929353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193929353(A;C)
Make rs193929353(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387206
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929353
ebirs193929353
HLIrs193929353
Exacrs193929353
Varsomers193929353
Maprs193929353
PheGenIrs193929353
hapmaprs193929353
1000 genomesrs193929353
hgdprs193929353
ensemblrs193929353
gopubmedrs193929353
geneviewrs193929353
scholarrs193929353
googlers193929353
pharmgkbrs193929353
gwascentralrs193929353
openSNPrs193929353
23andMers193929353
23andMe allrs193929353
SNP Nexus

SNPshotrs193929353
SNPdbers193929353
MSV3drs193929353
GWAS Ctlgrs193929353
Max Magnitude0
ClinVar
Risk rs193929353(C,G;C,G)
Alt rs193929353(C,G;C,G)
Reference rs193929353(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17408753T>C; NC_000011.9:g.17408753T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020359.1, RCV000020358.1,