rs80338922

Orientation

minus

Stabilized

minus

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

Make rs80338922(A;A)

Make rs80338922(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149028555

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338922
dbSNP (classic)	rs80338922
ClinGen	rs80338922
ebi	rs80338922
HLI	rs80338922
Exac	rs80338922
Gnomad	rs80338922
Varsome	rs80338922
LitVar	rs80338922
Map	rs80338922
PheGenI	rs80338922
Biobank	rs80338922
1000 genomes	rs80338922
hgdp	rs80338922
ensembl	rs80338922
geneview	rs80338922
scholar	rs80338922
google	rs80338922
pharmgkb	rs80338922
gwascentral	rs80338922
openSNP	rs80338922
23andMe	rs80338922
SNPshot	rs80338922
SNPdbe	rs80338922
MSV3d	rs80338922
GWAS Ctlg	rs80338922

Max Magnitude

0

ClinVar
Risk	rs80338922(A;A)
Alt	rs80338922(A;A)
Reference	Rs80338922(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.148408118C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020886.2,