rs764254189

Orientation

plus

Stabilized

plus

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

Make rs764254189(C;C)

Make rs764254189(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

12340230

Gene	AFG3L2, LOC107985154

is a	snp
is	mentioned by
dbSNP	rs764254189
dbSNP (classic)	rs764254189
ClinGen	rs764254189
ebi	rs764254189
HLI	rs764254189
Exac	rs764254189
Gnomad	rs764254189
Varsome	rs764254189
LitVar	rs764254189
Map	rs764254189
PheGenI	rs764254189
Biobank	rs764254189
1000 genomes	rs764254189
hgdp	rs764254189
ensembl	rs764254189
geneview	rs764254189
scholar	rs764254189
google	rs764254189
pharmgkb	rs764254189
gwascentral	rs764254189
openSNP	rs764254189
23andMe	rs764254189
SNPshot	rs764254189
SNPdbe	rs764254189
MSV3d	rs764254189
GWAS Ctlg	rs764254189

Max Magnitude

0

ClinVar
Risk	rs764254189(C;C) rs764254189(G;G)
Alt	rs764254189(C;C) rs764254189(G;G)
Reference	Rs764254189(T;T)
Significance	Probable-Pathogenic
Disease	Spastic ataxia 5
Variation	info
Gene	AFG3L2
CLNDBN	Spastic ataxia 5, autosomal recessive
Reversed	0
HGVS	NC_000018.9:g.12340229T>C
CLNSRC
CLNACC	RCV000415684.1,