rs137852972

Orientation

minus

Stabilized

minus

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

Make rs137852972(A;G)

Make rs137852972(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

62702499

Gene	BSCL2, HNRNPUL2-BSCL2

is a	snp
is	mentioned by
dbSNP	rs137852972
dbSNP (classic)	rs137852972
ClinGen	rs137852972
ebi	rs137852972
HLI	rs137852972
Exac	rs137852972
Gnomad	rs137852972
Varsome	rs137852972
LitVar	rs137852972
Map	rs137852972
PheGenI	rs137852972
Biobank	rs137852972
1000 genomes	rs137852972
hgdp	rs137852972
ensembl	rs137852972
geneview	rs137852972
scholar	rs137852972
google	rs137852972
pharmgkb	rs137852972
gwascentral	rs137852972
openSNP	rs137852972
23andMe	rs137852972
SNPshot	rs137852972
SNPdbe	rs137852972
MSV3d	rs137852972
GWAS Ctlg	rs137852972

Max Magnitude

0

OMIM	606158
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137852972(G;G)
Alt	rs137852972(G;G)
Reference	Rs137852972(A;A)
Significance	Pathogenic
Disease	Silver spastic paraplegia syndrome Distal hereditary motor neuronopathy type 5 Charcot-Marie-Tooth disease not provided
Variation	info
Gene	HNRNPUL2-BSCL2 BSCL2
CLNDBN	Silver spastic paraplegia syndrome Distal hereditary motor neuronopathy type 5 Charcot-Marie-Tooth disease, type 2 not provided
Reversed	1
HGVS	NC_000011.9:g.62469971T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004801.6, RCV000004802.7, RCV000168078.2, RCV000340485.1,