rs137852970

Orientation

minus

Stabilized

minus

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

Make rs137852970(C;T)

Make rs137852970(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

62694594

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs137852970
dbSNP (classic)	rs137852970
ClinGen	rs137852970
ebi	rs137852970
HLI	rs137852970
Exac	rs137852970
Gnomad	rs137852970
Varsome	rs137852970
LitVar	rs137852970
Map	rs137852970
PheGenI	rs137852970
Biobank	rs137852970
1000 genomes	rs137852970
hgdp	rs137852970
ensembl	rs137852970
geneview	rs137852970
scholar	rs137852970
google	rs137852970
pharmgkb	rs137852970
gwascentral	rs137852970
openSNP	rs137852970
23andMe	rs137852970
SNPshot	rs137852970
SNPdbe	rs137852970
MSV3d	rs137852970
GWAS Ctlg	rs137852970

Max Magnitude

0

OMIM	606158
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852970(T;T)
Alt	rs137852970(T;T)
Reference	Rs137852970(C;C)
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.62462066G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004795.3,