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rs1057518714

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518714(A;A)
Make rs1057518714(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position136676670
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs1057518714
dbSNP (old)rs1057518714
ClinGenrs1057518714
ebirs1057518714
HLIrs1057518714
Exacrs1057518714
Gnomadrs1057518714
Varsomers1057518714
Maprs1057518714
PheGenIrs1057518714
Biobankrs1057518714
1000 genomesrs1057518714
hgdprs1057518714
ensemblrs1057518714
gopubmedrs1057518714
geneviewrs1057518714
scholarrs1057518714
googlers1057518714
pharmgkbrs1057518714
gwascentralrs1057518714
openSNPrs1057518714
23andMers1057518714
23andMe allrs1057518714
SNPshotrs1057518714
SNPdbers1057518714
MSV3drs1057518714
GWAS Ctlgrs1057518714
Max Magnitude0
ClinVar
Risk rs1057518714(A;A)
Alt rs1057518714(A;A)
Reference Rs1057518714(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.139571122C>T
CLNSRC
CLNACC RCV000414972.1,