rs80338937

Orientation

minus

Stabilized

minus

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

Make rs80338937(C;T)

Make rs80338937(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149006955

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338937
dbSNP (classic)	rs80338937
ClinGen	rs80338937
ebi	rs80338937
HLI	rs80338937
Exac	rs80338937
Gnomad	rs80338937
Varsome	rs80338937
LitVar	rs80338937
Map	rs80338937
PheGenI	rs80338937
Biobank	rs80338937
1000 genomes	rs80338937
hgdp	rs80338937
ensembl	rs80338937
geneview	rs80338937
scholar	rs80338937
google	rs80338937
pharmgkb	rs80338937
gwascentral	rs80338937
openSNP	rs80338937
23andMe	rs80338937
SNPshot	rs80338937
SNPdbe	rs80338937
MSV3d	rs80338937
GWAS Ctlg	rs80338937

Max Magnitude

0

ClinVar
Risk	rs80338937(T;T)
Alt	rs80338937(T;T)
Reference	Rs80338937(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C
Reversed	1
HGVS	NC_000005.9:g.148386518G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020898.1,

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