rs1057518714

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057518714(A;A)

Make rs1057518714(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

136676670

Gene

AGPAT2

is a	snp
is	mentioned by
dbSNP	rs1057518714
dbSNP (classic)	rs1057518714
ClinGen	rs1057518714
ebi	rs1057518714
HLI	rs1057518714
Exac	rs1057518714
Gnomad	rs1057518714
Varsome	rs1057518714
LitVar	rs1057518714
Map	rs1057518714
PheGenI	rs1057518714
Biobank	rs1057518714
1000 genomes	rs1057518714
hgdp	rs1057518714
ensembl	rs1057518714
geneview	rs1057518714
scholar	rs1057518714
google	rs1057518714
pharmgkb	rs1057518714
gwascentral	rs1057518714
openSNP	rs1057518714
23andMe	rs1057518714
SNPshot	rs1057518714
SNPdbe	rs1057518714
MSV3d	rs1057518714
GWAS Ctlg	rs1057518714

Max Magnitude

0

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,