rs28937569

Orientation

plus

Stabilized

plus

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

Make rs28937569(C;T)

Make rs28937569(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

76304100

Gene

HSPB1

is a	snp
is	mentioned by
dbSNP	rs28937569
dbSNP (classic)	rs28937569
ClinGen	rs28937569
ebi	rs28937569
HLI	rs28937569
Exac	rs28937569
Gnomad	rs28937569
Varsome	rs28937569
LitVar	rs28937569
Map	rs28937569
PheGenI	rs28937569
Biobank	rs28937569
1000 genomes	rs28937569
hgdp	rs28937569
ensembl	rs28937569
geneview	rs28937569
scholar	rs28937569
google	rs28937569
pharmgkb	rs28937569
gwascentral	rs28937569
openSNP	rs28937569
23andMe	rs28937569
SNPshot	rs28937569
SNPdbe	rs28937569
MSV3d	rs28937569
GWAS Ctlg	rs28937569

Max Magnitude

0

OMIM	602195
Desc	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant	0004
Related	also

ClinVar
Risk	rs28937569(T;T)
Alt	rs28937569(T;T)
Reference	Rs28937569(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.75933417C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007909.2,