rs104894351

Orientation

plus

Stabilized

plus

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

Make rs104894351(A;G)

Make rs104894351(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

119187078

Gene	HSPB8, LOC107984440

is a	snp
is	mentioned by
dbSNP	rs104894351
dbSNP (classic)	rs104894351
ClinGen	rs104894351
ebi	rs104894351
HLI	rs104894351
Exac	rs104894351
Gnomad	rs104894351
Varsome	rs104894351
LitVar	rs104894351
Map	rs104894351
PheGenI	rs104894351
Biobank	rs104894351
1000 genomes	rs104894351
hgdp	rs104894351
ensembl	rs104894351
geneview	rs104894351
scholar	rs104894351
google	rs104894351
pharmgkb	rs104894351
gwascentral	rs104894351
openSNP	rs104894351
23andMe	rs104894351
SNPshot	rs104894351
SNPdbe	rs104894351
MSV3d	rs104894351
GWAS Ctlg	rs104894351

Max Magnitude

0

OMIM	608014
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894351(G;G)
Alt	rs104894351(G;G)
Reference	Rs104894351(A;A)
Significance	Pathogenic
Disease	Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease
Variation	info
Gene	HSPB8
CLNDBN	Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_000012.11:g.119624883A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002736.2, RCV000192252.1,