rs80338930

Orientation

minus

Stabilized

minus

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

Make rs80338930(A;T)

Make rs80338930(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027090

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338930
dbSNP (classic)	rs80338930
ClinGen	rs80338930
ebi	rs80338930
HLI	rs80338930
Exac	rs80338930
Gnomad	rs80338930
Varsome	rs80338930
LitVar	rs80338930
Map	rs80338930
PheGenI	rs80338930
Biobank	rs80338930
1000 genomes	rs80338930
hgdp	rs80338930
ensembl	rs80338930
geneview	rs80338930
scholar	rs80338930
google	rs80338930
pharmgkb	rs80338930
gwascentral	rs80338930
openSNP	rs80338930
23andMe	rs80338930
SNPshot	rs80338930
SNPdbe	rs80338930
MSV3d	rs80338930
GWAS Ctlg	rs80338930

Max Magnitude

0

ClinVar
Risk	rs80338930(G;G) rs80338930(T;T)
Alt	rs80338930(G;G) rs80338930(T;T)
Reference	Rs80338930(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C not provided Charcot-Marie-Tooth disease, type IV
Reversed	1
HGVS	NC_000005.9:g.148406653T>A; NC_000005.9:g.148406653T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020893.1, RCV000441336.1, RCV000456313.1,