rs104894345

Orientation

plus

Stabilized

plus

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

Make rs104894345(C;C)

Make rs104894345(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

119187080

Gene	HSPB8, LOC107984440

is a	snp
is	mentioned by
dbSNP	rs104894345
dbSNP (classic)	rs104894345
ClinGen	rs104894345
ebi	rs104894345
HLI	rs104894345
Exac	rs104894345
Gnomad	rs104894345
Varsome	rs104894345
LitVar	rs104894345
Map	rs104894345
PheGenI	rs104894345
Biobank	rs104894345
1000 genomes	rs104894345
hgdp	rs104894345
ensembl	rs104894345
geneview	rs104894345
scholar	rs104894345
google	rs104894345
pharmgkb	rs104894345
gwascentral	rs104894345
openSNP	rs104894345
23andMe	rs104894345
SNPshot	rs104894345
SNPdbe	rs104894345
MSV3d	rs104894345
GWAS Ctlg	rs104894345

Max Magnitude

0

OMIM	608014
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894345(C;C) rs104894345(T;T)
Alt	rs104894345(C;C) rs104894345(T;T)
Reference	Rs104894345(G;G)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	HSPB8
CLNDBN	Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2L
Reversed	0
HGVS	NC_000012.11:g.119624885G>C; NC_000012.11:g.119624885G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002735.2, RCV000192251.1, RCV000002737.2, RCV000192250.1,