rs28939681

Orientation

plus

Stabilized

plus

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

Make rs28939681(C;T)

Make rs28939681(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

76303843

Gene

HSPB1

is a	snp
is	mentioned by
dbSNP	rs28939681
dbSNP (classic)	rs28939681
ClinGen	rs28939681
ebi	rs28939681
HLI	rs28939681
Exac	rs28939681
Gnomad	rs28939681
Varsome	rs28939681
LitVar	rs28939681
Map	rs28939681
PheGenI	rs28939681
Biobank	rs28939681
1000 genomes	rs28939681
hgdp	rs28939681
ensembl	rs28939681
geneview	rs28939681
scholar	rs28939681
google	rs28939681
pharmgkb	rs28939681
gwascentral	rs28939681
openSNP	rs28939681
23andMe	rs28939681
SNPshot	rs28939681
SNPdbe	rs28939681
MSV3d	rs28939681
GWAS Ctlg	rs28939681

Max Magnitude

0

OMIM	602195
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
Variant	0005
Related	also

ClinVar
Risk	rs28939681(T;T)
Alt	rs28939681(T;T)
Reference	Rs28939681(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2F
Variation	info
Gene	HSPB1
CLNDBN	Charcot-Marie-Tooth disease type 2F
Reversed	0
HGVS	NC_000007.13:g.75933160C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007910.2,