rs80338927

Orientation

minus

Stabilized

minus

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

Make rs80338927(C;C)

Make rs80338927(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027750

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338927
dbSNP (classic)	rs80338927
ClinGen	rs80338927
ebi	rs80338927
HLI	rs80338927
Exac	rs80338927
Gnomad	rs80338927
Varsome	rs80338927
LitVar	rs80338927
Map	rs80338927
PheGenI	rs80338927
Biobank	rs80338927
1000 genomes	rs80338927
hgdp	rs80338927
ensembl	rs80338927
geneview	rs80338927
scholar	rs80338927
google	rs80338927
pharmgkb	rs80338927
gwascentral	rs80338927
openSNP	rs80338927
23andMe	rs80338927
SNPshot	rs80338927
SNPdbe	rs80338927
MSV3d	rs80338927
GWAS Ctlg	rs80338927

Max Magnitude

0

ClinVar
Risk	rs80338927(C;C)
Alt	rs80338927(C;C)
Reference	Rs80338927(T;T)
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.148407313A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020889.1,