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rs1057517655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517655(C;T)
Make rs1057517655(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136673913
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517655
dbSNP (old)rs1057517655
ClinGenrs1057517655
ebirs1057517655
HLIrs1057517655
Exacrs1057517655
Gnomadrs1057517655
Varsomers1057517655
Maprs1057517655
PheGenIrs1057517655
Biobankrs1057517655
1000 genomesrs1057517655
hgdprs1057517655
ensemblrs1057517655
gopubmedrs1057517655
geneviewrs1057517655
scholarrs1057517655
googlers1057517655
pharmgkbrs1057517655
gwascentralrs1057517655
openSNPrs1057517655
23andMers1057517655
23andMe allrs1057517655
SNPshotrs1057517655
SNPdbers1057517655
MSV3drs1057517655
GWAS Ctlgrs1057517655
Max Magnitude0
ClinVar
Risk rs1057517655(T;T)
Alt rs1057517655(T;T)
Reference Rs1057517655(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.139568365G>A
CLNSRC
CLNACC RCV000412578.1,