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rs1057517654

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517654(G;G)
Make rs1057517654(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136674733
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057517654
dbSNP (old)rs1057517654
ClinGenrs1057517654
ebirs1057517654
HLIrs1057517654
Exacrs1057517654
Gnomadrs1057517654
Varsomers1057517654
Maprs1057517654
PheGenIrs1057517654
Biobankrs1057517654
1000 genomesrs1057517654
hgdprs1057517654
ensemblrs1057517654
gopubmedrs1057517654
geneviewrs1057517654
scholarrs1057517654
googlers1057517654
pharmgkbrs1057517654
gwascentralrs1057517654
openSNPrs1057517654
23andMers1057517654
23andMe allrs1057517654
SNPshotrs1057517654
SNPdbers1057517654
MSV3drs1057517654
GWAS Ctlgrs1057517654
Max Magnitude0
ClinVar
Risk rs1057517654(G;G)
Alt rs1057517654(G;G)
Reference Rs1057517654(T;T)
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.139569185A>C
CLNSRC
CLNACC RCV000412521.1,