rs863224454

Orientation

minus

Stabilized

minus

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

Make rs863224454(AG;AG)

Make rs863224454(AG;GT)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

149028145

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs863224454
dbSNP (classic)	rs863224454
ClinGen	rs863224454
ebi	rs863224454
HLI	rs863224454
Exac	rs863224454
Gnomad	rs863224454
Varsome	rs863224454
LitVar	rs863224454
Map	rs863224454
PheGenI	rs863224454
Biobank	rs863224454
1000 genomes	rs863224454
hgdp	rs863224454
ensembl	rs863224454
geneview	rs863224454
scholar	rs863224454
google	rs863224454
pharmgkb	rs863224454
gwascentral	rs863224454
openSNP	rs863224454
23andMe	rs863224454
SNPshot	rs863224454
SNPdbe	rs863224454
MSV3d	rs863224454
GWAS Ctlg	rs863224454

Max Magnitude

0

ClinVar
Risk	rs863224454(AG;AG)
Alt	rs863224454(AG;AG)
Reference	Rs863224454(GT;GT)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type IV
Reversed	1
HGVS	NC_000005.9:g.148407708_148407709delACinsCT
CLNSRC
CLNACC	RCV000196497.1,