rs137852973

Orientation

minus

Stabilized

minus

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

Make rs137852973(C;T)

Make rs137852973(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

62702493

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs137852973
dbSNP (classic)	rs137852973
ClinGen	rs137852973
ebi	rs137852973
HLI	rs137852973
Exac	rs137852973
Gnomad	rs137852973
Varsome	rs137852973
LitVar	rs137852973
Map	rs137852973
PheGenI	rs137852973
Biobank	rs137852973
1000 genomes	rs137852973
hgdp	rs137852973
ensembl	rs137852973
geneview	rs137852973
scholar	rs137852973
google	rs137852973
pharmgkb	rs137852973
gwascentral	rs137852973
openSNP	rs137852973
23andMe	rs137852973
SNPshot	rs137852973
SNPdbe	rs137852973
MSV3d	rs137852973
GWAS Ctlg	rs137852973

Max Magnitude

0

OMIM	606158
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137852973(T;T)
Alt	rs137852973(T;T)
Reference	Rs137852973(C;C)
Significance	Pathogenic
Disease	Silver spastic paraplegia syndrome not provided
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Silver spastic paraplegia syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.62469965G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004803.3, RCV000235980.2,