rs28937568

Orientation

plus

Stabilized

plus

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

Make rs28937568(C;T)

Make rs28937568(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

76304007

Gene

HSPB1

is a	snp
is	mentioned by
dbSNP	rs28937568
dbSNP (classic)	rs28937568
ClinGen	rs28937568
ebi	rs28937568
HLI	rs28937568
Exac	rs28937568
Gnomad	rs28937568
Varsome	rs28937568
LitVar	rs28937568
Map	rs28937568
PheGenI	rs28937568
Biobank	rs28937568
1000 genomes	rs28937568
hgdp	rs28937568
ensembl	rs28937568
geneview	rs28937568
scholar	rs28937568
google	rs28937568
pharmgkb	rs28937568
gwascentral	rs28937568
openSNP	rs28937568
23andMe	rs28937568
SNPshot	rs28937568
SNPdbe	rs28937568
MSV3d	rs28937568
GWAS Ctlg	rs28937568

Max Magnitude

0

OMIM	602195
Desc	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant	0003
Related	also

ClinVar
Risk	rs28937568(G;G) rs28937568(T;T)
Alt	rs28937568(G;G) rs28937568(T;T)
Reference	Rs28937568(C;C)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 2B
Variation	info
Gene	HSPB1
CLNDBN	Distal hereditary motor neuronopathy type 2B
Reversed	0
HGVS	NC_000007.13:g.75933324C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007908.3,