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rs28936370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28936370(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17396980
GeneABCC8
is asnp
is mentioned by
dbSNPrs28936370
ebirs28936370
HLIrs28936370
Exacrs28936370
Varsomers28936370
Maprs28936370
PheGenIrs28936370
hapmaprs28936370
1000 genomesrs28936370
hgdprs28936370
ensemblrs28936370
gopubmedrs28936370
geneviewrs28936370
scholarrs28936370
googlers28936370
pharmgkbrs28936370
gwascentralrs28936370
openSNPrs28936370
23andMers28936370
23andMe allrs28936370
SNP Nexus

SNPshotrs28936370
SNPdbers28936370
MSV3drs28936370
GWAS Ctlgrs28936370
Max Magnitude0
OMIM600509
DescHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
Variant0008
Relatedalso
Neighborrs757110
Distance50
OMIM600509
Desc
Variant0012
Relatedalso


ClinVar
Risk rs28936370(A,C;A,C)
Alt rs28936370(A,C;A,C)
Reference rs28936370(G;G)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy Leucine-induced hypoglycemia
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy Leucine-induced hypoglycemia
Reversed 1
HGVS NC_000011.9:g.17418527C>G; NC_000011.9:g.17418527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009662.2, RCV000009666.2,