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rs1057517650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517650(A;A)
Make rs1057517650(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136687175
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517650
dbSNP (classic)rs1057517650
ClinGenrs1057517650
ebirs1057517650
HLIrs1057517650
Exacrs1057517650
Gnomadrs1057517650
Varsomers1057517650
LitVarrs1057517650
Maprs1057517650
PheGenIrs1057517650
Biobankrs1057517650
1000 genomesrs1057517650
hgdprs1057517650
ensemblrs1057517650
geneviewrs1057517650
scholarrs1057517650
googlers1057517650
pharmgkbrs1057517650
gwascentralrs1057517650
openSNPrs1057517650
23andMers1057517650
SNPshotrs1057517650
SNPdbers1057517650
MSV3drs1057517650
GWAS Ctlgrs1057517650
Max Magnitude0
ClinVar
Risk rs1057517650(A;A)
Alt rs1057517650(A;A)
Reference Rs1057517650(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.139581627C>T
CLNSRC
CLNACC RCV000412655.1,