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rs1057517651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517651(A;A)
Make rs1057517651(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136677545
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517651
dbSNP (classic)rs1057517651
ClinGenrs1057517651
ebirs1057517651
HLIrs1057517651
Exacrs1057517651
Gnomadrs1057517651
Varsomers1057517651
LitVarrs1057517651
Maprs1057517651
PheGenIrs1057517651
Biobankrs1057517651
1000 genomesrs1057517651
hgdprs1057517651
ensemblrs1057517651
geneviewrs1057517651
scholarrs1057517651
googlers1057517651
pharmgkbrs1057517651
gwascentralrs1057517651
openSNPrs1057517651
23andMers1057517651
23andMe allrs1057517651
SNPshotrs1057517651
SNPdbers1057517651
MSV3drs1057517651
GWAS Ctlgrs1057517651
Max Magnitude0
ClinVar
Risk rs1057517651(A;A)
Alt rs1057517651(A;A)
Reference Rs1057517651(G;G)
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.139571997C>T
CLNSRC
CLNACC RCV000412547.1,