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

rs137853103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853103(C;T)
Make rs137853103(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position108033239
GeneHADH
is asnp
is mentioned by
dbSNPrs137853103
dbSNP (classic)rs137853103
ClinGenrs137853103
ebirs137853103
HLIrs137853103
Exacrs137853103
Gnomadrs137853103
Varsomers137853103
LitVarrs137853103
Maprs137853103
PheGenIrs137853103
Biobankrs137853103
1000 genomesrs137853103
hgdprs137853103
ensemblrs137853103
geneviewrs137853103
scholarrs137853103
googlers137853103
pharmgkbrs137853103
gwascentralrs137853103
openSNPrs137853103
23andMers137853103
SNPshotrs137853103
SNPdbers137853103
MSV3drs137853103
GWAS Ctlgrs137853103
Max Magnitude0
OMIM601609
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853103(T;T)
Alt rs137853103(T;T)
Reference Rs137853103(C;C)
Significance Pathogenic
Disease Hyperinsulinemic hypoglycemia
Variation info
Gene HADH
CLNDBN Hyperinsulinemic hypoglycemia, familial, 4
Reversed 0
HGVS NC_000004.11:g.108954395C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008484.2,