rs29001571

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0	common/normal

Make rs29001571(C;T)

Make rs29001571(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

76303816

Gene

HSPB1

is a	snp
is	mentioned by
dbSNP	rs29001571
dbSNP (classic)	rs29001571
ClinGen	rs29001571
ebi	rs29001571
HLI	rs29001571
Exac	rs29001571
Gnomad	rs29001571
Varsome	rs29001571
LitVar	rs29001571
Map	rs29001571
PheGenI	rs29001571
Biobank	rs29001571
1000 genomes	rs29001571
hgdp	rs29001571
ensembl	rs29001571
geneview	rs29001571
scholar	rs29001571
google	rs29001571
pharmgkb	rs29001571
gwascentral	rs29001571
openSNP	rs29001571
23andMe	rs29001571
SNPshot	rs29001571
SNPdbe	rs29001571
MSV3d	rs29001571
GWAS Ctlg	rs29001571

Max Magnitude

0

OMIM	602195
Desc	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant	0002
Related	also

ClinVar
Risk	rs29001571(T;T)
Alt	rs29001571(T;T)
Reference	Rs29001571(C;C)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 2B Charcot-Marie-Tooth disease type 2F not provided
Variation	info
Gene	HSPB1
CLNDBN	Distal hereditary motor neuronopathy type 2B Charcot-Marie-Tooth disease type 2F not provided
Reversed	0
HGVS	NC_000007.13:g.75933133C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007906.2, RCV000007907.3, RCV000489743.1,