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

rs104894093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894093(C;T)
Make rs104894093(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136677537
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs104894093
ebirs104894093
HLIrs104894093
Exacrs104894093
Varsomers104894093
Maprs104894093
PheGenIrs104894093
hapmaprs104894093
1000 genomesrs104894093
hgdprs104894093
ensemblrs104894093
gopubmedrs104894093
geneviewrs104894093
scholarrs104894093
googlers104894093
pharmgkbrs104894093
gwascentralrs104894093
openSNPrs104894093
23andMers104894093
23andMe allrs104894093
SNP Nexus

SNPshotrs104894093
SNPdbers104894093
MSV3drs104894093
GWAS Ctlgrs104894093
Max Magnitude0
OMIM603100
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894093(T;T)
Alt rs104894093(T;T)
Reference rs104894093(C;C)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 1
Variation info
Gene AGPAT2
CLNDBN Congenital generalized lipodystrophy type 1
Reversed 1
HGVS NC_000009.11:g.139571989G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007003.3,