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rs1057517652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517652(A;A)
Make rs1057517652(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136676960
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517652
dbSNP (old)rs1057517652
ClinGenrs1057517652
ebirs1057517652
HLIrs1057517652
Exacrs1057517652
Gnomadrs1057517652
Varsomers1057517652
LitVarrs1057517652
Maprs1057517652
PheGenIrs1057517652
Biobankrs1057517652
1000 genomesrs1057517652
hgdprs1057517652
ensemblrs1057517652
gopubmedrs1057517652
geneviewrs1057517652
scholarrs1057517652
googlers1057517652
pharmgkbrs1057517652
gwascentralrs1057517652
openSNPrs1057517652
23andMers1057517652
23andMe allrs1057517652
SNPshotrs1057517652
SNPdbers1057517652
MSV3drs1057517652
GWAS Ctlgrs1057517652
Max Magnitude0
ClinVar
Risk rs1057517652(A;A)
Alt rs1057517652(A;A)
Reference Rs1057517652(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.139571412C>T
CLNSRC
CLNACC RCV000412609.1,