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rs1057517653

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517653(-;-)
Make rs1057517653(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136676635
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517653
dbSNP (old)rs1057517653
ClinGenrs1057517653
ebirs1057517653
HLIrs1057517653
Exacrs1057517653
Gnomadrs1057517653
Varsomers1057517653
Maprs1057517653
PheGenIrs1057517653
Biobankrs1057517653
1000 genomesrs1057517653
hgdprs1057517653
ensemblrs1057517653
gopubmedrs1057517653
geneviewrs1057517653
scholarrs1057517653
googlers1057517653
pharmgkbrs1057517653
gwascentralrs1057517653
openSNPrs1057517653
23andMers1057517653
23andMe allrs1057517653
SNPshotrs1057517653
SNPdbers1057517653
MSV3drs1057517653
GWAS Ctlgrs1057517653
Max Magnitude0
ClinVar
Risk rs1057517653(-;-)
Alt rs1057517653(-;-)
Reference Rs1057517653(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.139571087delC
CLNSRC
CLNACC RCV000412491.1,