rs80338919

Orientation

minus

Stabilized

minus

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

Make rs80338919(CCAGTAA;CCAGTAA)

Make rs80338919(CCAGTAA;GCTGCTCGGAG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149047914

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338919
dbSNP (classic)	rs80338919
ClinGen	rs80338919
ebi	rs80338919
HLI	rs80338919
Exac	rs80338919
Gnomad	rs80338919
Varsome	rs80338919
LitVar	rs80338919
Map	rs80338919
PheGenI	rs80338919
Biobank	rs80338919
1000 genomes	rs80338919
hgdp	rs80338919
ensembl	rs80338919
geneview	rs80338919
scholar	rs80338919
google	rs80338919
pharmgkb	rs80338919
gwascentral	rs80338919
openSNP	rs80338919
23andMe	rs80338919
SNPshot	rs80338919
SNPdbe	rs80338919
MSV3d	rs80338919
GWAS Ctlg	rs80338919

Max Magnitude

0

ClinVar
Risk	rs80338919(CCAGTAA;CCAGTAA)
Alt	rs80338919(CCAGTAA;CCAGTAA)
Reference	Rs80338919(GCTGCTCGGAG;GCTGCTCGGAG)
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.148427477_148427487delCTCCGAGCAGCinsTTACTGG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020890.1,