rs28939680

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0	common in complete genomics

Make rs28939680(C;T)

Make rs28939680(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

76303841

Gene

HSPB1

is a	snp
is	mentioned by
dbSNP	rs28939680
dbSNP (classic)	rs28939680
ClinGen	rs28939680
ebi	rs28939680
HLI	rs28939680
Exac	rs28939680
Gnomad	rs28939680
Varsome	rs28939680
LitVar	rs28939680
Map	rs28939680
PheGenI	rs28939680
Biobank	rs28939680
1000 genomes	rs28939680
hgdp	rs28939680
ensembl	rs28939680
geneview	rs28939680
scholar	rs28939680
google	rs28939680
pharmgkb	rs28939680
gwascentral	rs28939680
openSNP	rs28939680
23andMe	rs28939680
SNPshot	rs28939680
SNPdbe	rs28939680
MSV3d	rs28939680
GWAS Ctlg	rs28939680

Max Magnitude

0

OMIM	602195
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
Variant	0001
Related	also

ClinVar
Risk	rs28939680(T;T)
Alt	rs28939680(T;T)
Reference	Rs28939680(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B
Variation	info
Gene	HSPB1
CLNDBN	Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B
Reversed	0
HGVS	NC_000007.13:g.75933158C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007904.3, RCV000007905.3,