rs80338921

Orientation

minus

Stabilized

minus

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

Make rs80338921(A;A)

Make rs80338921(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149038376

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338921
dbSNP (classic)	rs80338921
ClinGen	rs80338921
ebi	rs80338921
HLI	rs80338921
Exac	rs80338921
Gnomad	rs80338921
Varsome	rs80338921
LitVar	rs80338921
Map	rs80338921
PheGenI	rs80338921
Biobank	rs80338921
1000 genomes	rs80338921
hgdp	rs80338921
ensembl	rs80338921
geneview	rs80338921
scholar	rs80338921
google	rs80338921
pharmgkb	rs80338921
gwascentral	rs80338921
openSNP	rs80338921
23andMe	rs80338921
SNPshot	rs80338921
SNPdbe	rs80338921
MSV3d	rs80338921
GWAS Ctlg	rs80338921

Max Magnitude

0

ClinVar
Risk	rs80338921(A;A)
Alt	rs80338921(A;A)
Reference	Rs80338921(G;G)
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.148417939C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020899.1,