rs80338918

Orientation

minus

Stabilized

minus

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

Make rs80338918(-;-)

Make rs80338918(-;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149062995

Gene	LOC255187, MIR584, SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338918
dbSNP (classic)	rs80338918
ClinGen	rs80338918
ebi	rs80338918
HLI	rs80338918
Exac	rs80338918
Gnomad	rs80338918
Varsome	rs80338918
LitVar	rs80338918
Map	rs80338918
PheGenI	rs80338918
Biobank	rs80338918
1000 genomes	rs80338918
hgdp	rs80338918
ensembl	rs80338918
geneview	rs80338918
scholar	rs80338918
google	rs80338918
pharmgkb	rs80338918
gwascentral	rs80338918
openSNP	rs80338918
23andMe	rs80338918
SNPshot	rs80338918
SNPdbe	rs80338918
MSV3d	rs80338918
GWAS Ctlg	rs80338918

Max Magnitude

0

ClinVar
Risk	rs80338918(-;-)
Alt	rs80338918(-;-)
Reference	Rs80338918(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2 MIR584 LOC255187
CLNDBN	Charcot-Marie-Tooth disease, type 4C
Reversed	1
HGVS	NC_000005.9:g.148442558delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020895.1,

[PMID 14574644] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.