rs137852975

Orientation

minus

Stabilized

minus

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

Make rs137852975(G;T)

Make rs137852975(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

62692671

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs137852975
dbSNP (classic)	rs137852975
ClinGen	rs137852975
ebi	rs137852975
HLI	rs137852975
Exac	rs137852975
Gnomad	rs137852975
Varsome	rs137852975
LitVar	rs137852975
Map	rs137852975
PheGenI	rs137852975
Biobank	rs137852975
1000 genomes	rs137852975
hgdp	rs137852975
ensembl	rs137852975
geneview	rs137852975
scholar	rs137852975
google	rs137852975
pharmgkb	rs137852975
gwascentral	rs137852975
openSNP	rs137852975
23andMe	rs137852975
SNPshot	rs137852975
SNPdbe	rs137852975
MSV3d	rs137852975
GWAS Ctlg	rs137852975

Max Magnitude

0

OMIM	606158
Desc
Variant	0016
Related	also

ClinVar
Risk	rs137852975(T;T)
Alt	rs137852975(T;T)
Reference	Rs137852975(G;G)
Significance	Pathogenic
Disease	Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease, type 2
Reversed	1
HGVS	NC_000011.9:g.62460143C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004805.3, RCV000196081.1,