rs387906889

Orientation

minus

Stabilized

minus

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

Make rs387906889(A;G)

Make rs387906889(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

12340334

Gene	AFG3L2, LOC107985154

is a	snp
is	mentioned by
dbSNP	rs387906889
dbSNP (classic)	rs387906889
ClinGen	rs387906889
ebi	rs387906889
HLI	rs387906889
Exac	rs387906889
Gnomad	rs387906889
Varsome	rs387906889
LitVar	rs387906889
Map	rs387906889
PheGenI	rs387906889
Biobank	rs387906889
1000 genomes	rs387906889
hgdp	rs387906889
ensembl	rs387906889
geneview	rs387906889
scholar	rs387906889
google	rs387906889
pharmgkb	rs387906889
gwascentral	rs387906889
openSNP	rs387906889
23andMe	rs387906889
SNPshot	rs387906889
SNPdbe	rs387906889
MSV3d	rs387906889
GWAS Ctlg	rs387906889

Max Magnitude

0

ClinVar
Risk	rs387906889(G;G)
Alt	rs387906889(G;G)
Reference	Rs387906889(A;A)
Significance	Pathogenic
Disease	Spastic ataxia 5 not provided
Variation	info
Gene	AFG3L2
CLNDBN	Spastic ataxia 5, autosomal recessive not provided
Reversed	1
HGVS	NC_000018.9:g.12340333T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023380.4, RCV000414375.1,