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rs749271190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749271190(C;T)
Make rs749271190(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17412665
GeneABCC8
is asnp
is mentioned by
dbSNPrs749271190
dbSNP (classic)rs749271190
ClinGenrs749271190
ebirs749271190
HLIrs749271190
Exacrs749271190
Gnomadrs749271190
Varsomers749271190
LitVarrs749271190
Maprs749271190
PheGenIrs749271190
Biobankrs749271190
1000 genomesrs749271190
hgdprs749271190
ensemblrs749271190
geneviewrs749271190
scholarrs749271190
googlers749271190
pharmgkbrs749271190
gwascentralrs749271190
openSNPrs749271190
23andMers749271190
SNPshotrs749271190
SNPdbers749271190
MSV3drs749271190
GWAS Ctlgrs749271190
Max Magnitude0
ClinVar
Risk rs749271190(A;A) rs749271190(T;T)
Alt rs749271190(A;A) rs749271190(T;T)
Reference Rs749271190(C;C)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 0
HGVS NC_000011.9:g.17434212C>T
CLNSRC
CLNACC RCV000410235.1,