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rs1057517649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517649(A;G)
Make rs1057517649(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136677558
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517649
dbSNP (old)rs1057517649
ClinGenrs1057517649
ebirs1057517649
HLIrs1057517649
Exacrs1057517649
Gnomadrs1057517649
Varsomers1057517649
Maprs1057517649
PheGenIrs1057517649
Biobankrs1057517649
1000 genomesrs1057517649
hgdprs1057517649
ensemblrs1057517649
gopubmedrs1057517649
geneviewrs1057517649
scholarrs1057517649
googlers1057517649
pharmgkbrs1057517649
gwascentralrs1057517649
openSNPrs1057517649
23andMers1057517649
23andMe allrs1057517649
SNPshotrs1057517649
SNPdbers1057517649
MSV3drs1057517649
GWAS Ctlgrs1057517649
Max Magnitude0
ClinVar
Risk rs1057517649(G;G)
Alt rs1057517649(G;G)
Reference Rs1057517649(A;A)
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.139572010T>C
CLNSRC
CLNACC RCV000412588.1,