rs151344519

Orientation

minus

Stabilized

minus

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

Make rs151344519(CC;TA)

Make rs151344519(TA;TA)

Reference

GRCh38 38.1/141

Chromosome

18

Position

12337494

Gene	AFG3L2, LOC107985154

is a	snp
is	mentioned by
dbSNP	rs151344519
dbSNP (classic)	rs151344519
ClinGen	rs151344519
ebi	rs151344519
HLI	rs151344519
Exac	rs151344519
Gnomad	rs151344519
Varsome	rs151344519
LitVar	rs151344519
Map	rs151344519
PheGenI	rs151344519
Biobank	rs151344519
1000 genomes	rs151344519
hgdp	rs151344519
ensembl	rs151344519
geneview	rs151344519
scholar	rs151344519
google	rs151344519
pharmgkb	rs151344519
gwascentral	rs151344519
openSNP	rs151344519
23andMe	rs151344519
SNPshot	rs151344519
SNPdbe	rs151344519
MSV3d	rs151344519
GWAS Ctlg	rs151344519

Max Magnitude

0

OMIM	604581
Desc
Variant	0002
Related	also

ClinVar
Risk	rs151344519(TA;TA)
Alt	rs151344519(TA;TA)
Reference	Rs151344519(CC;CC)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 28
Variation	info
Gene	AFG3L2
CLNDBN	Spinocerebellar ataxia 28
Reversed	1
HGVS	NC_000018.9:g.12337493_12337494delGGinsTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005805.3,