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rs1057517656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAGGACCA;TGAGGACCA) 0 common in clinvar
Make rs1057517656(-;-)
Make rs1057517656(-;TGAGGACCA)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136673826
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517656
dbSNP (old)rs1057517656
ClinGenrs1057517656
ebirs1057517656
HLIrs1057517656
Exacrs1057517656
Gnomadrs1057517656
Varsomers1057517656
LitVarrs1057517656
Maprs1057517656
PheGenIrs1057517656
Biobankrs1057517656
1000 genomesrs1057517656
hgdprs1057517656
ensemblrs1057517656
gopubmedrs1057517656
geneviewrs1057517656
scholarrs1057517656
googlers1057517656
pharmgkbrs1057517656
gwascentralrs1057517656
openSNPrs1057517656
23andMers1057517656
23andMe allrs1057517656
SNPshotrs1057517656
SNPdbers1057517656
MSV3drs1057517656
GWAS Ctlgrs1057517656
Max Magnitude0
ClinVar
Risk rs1057517656(-;-)
Alt rs1057517656(-;-)
Reference Rs1057517656(TGAGGACCA;TGAGGACCA)
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.139568278_139568286delTGGTCCTCA
CLNSRC
CLNACC RCV000412504.1,