rs1057517660

Orientation

minus

Stabilized

minus

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

Make rs1057517660(A;G)

Make rs1057517660(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

62692475

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs1057517660
dbSNP (classic)	rs1057517660
ClinGen	rs1057517660
ebi	rs1057517660
HLI	rs1057517660
Exac	rs1057517660
Gnomad	rs1057517660
Varsome	rs1057517660
LitVar	rs1057517660
Map	rs1057517660
PheGenI	rs1057517660
Biobank	rs1057517660
1000 genomes	rs1057517660
hgdp	rs1057517660
ensembl	rs1057517660
geneview	rs1057517660
scholar	rs1057517660
google	rs1057517660
pharmgkb	rs1057517660
gwascentral	rs1057517660
openSNP	rs1057517660
23andMe	rs1057517660
SNPshot	rs1057517660
SNPdbe	rs1057517660
MSV3d	rs1057517660
GWAS Ctlg	rs1057517660

Max Magnitude

0

ClinVar
Risk	rs1057517660(G;G)
Alt	rs1057517660(G;G)
Reference	Rs1057517660(A;A)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Congenital generalized lipodystrophy type 2
Reversed	1
HGVS	NC_000011.9:g.62459947T>C
CLNSRC
CLNACC	RCV000412607.1,