rs137852974

Orientation

minus

Stabilized

minus

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

Make rs137852974(C;T)

Make rs137852974(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

62691132

Gene	BSCL2, HNRNPUL2-BSCL2, LRRN4CL

is a	snp
is	mentioned by
dbSNP	rs137852974
dbSNP (classic)	rs137852974
ClinGen	rs137852974
ebi	rs137852974
HLI	rs137852974
Exac	rs137852974
Gnomad	rs137852974
Varsome	rs137852974
LitVar	rs137852974
Map	rs137852974
PheGenI	rs137852974
Biobank	rs137852974
1000 genomes	rs137852974
hgdp	rs137852974
ensembl	rs137852974
geneview	rs137852974
scholar	rs137852974
google	rs137852974
pharmgkb	rs137852974
gwascentral	rs137852974
openSNP	rs137852974
23andMe	rs137852974
SNPshot	rs137852974
SNPdbe	rs137852974
MSV3d	rs137852974
GWAS Ctlg	rs137852974

Max Magnitude

0

OMIM	606158
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137852974(T;T)
Alt	rs137852974(T;T)
Reference	Rs137852974(C;C)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2 LRRN4CL
CLNDBN	Congenital generalized lipodystrophy type 2
Reversed	1
HGVS	NC_000011.9:g.62458604G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004804.3,