rs151344513

Orientation

minus

Stabilized

minus

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

Make rs151344513(C;T)

Make rs151344513(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

12340220

Gene	AFG3L2, LOC107985154

is a	snp
is	mentioned by
dbSNP	rs151344513
dbSNP (classic)	rs151344513
ClinGen	rs151344513
ebi	rs151344513
HLI	rs151344513
Exac	rs151344513
Gnomad	rs151344513
Varsome	rs151344513
LitVar	rs151344513
Map	rs151344513
PheGenI	rs151344513
Biobank	rs151344513
1000 genomes	rs151344513
hgdp	rs151344513
ensembl	rs151344513
geneview	rs151344513
scholar	rs151344513
google	rs151344513
pharmgkb	rs151344513
gwascentral	rs151344513
openSNP	rs151344513
23andMe	rs151344513
SNPshot	rs151344513
SNPdbe	rs151344513
MSV3d	rs151344513
GWAS Ctlg	rs151344513

Max Magnitude

0

ClinVar
Risk	rs151344513(T;T)
Alt	rs151344513(T;T)
Reference	Rs151344513(C;C)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 28
Variation	info
Gene	AFG3L2
CLNDBN	Spinocerebellar ataxia 28
Reversed	1
HGVS	NC_000018.9:g.12340219G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000031941.3,