rs398122959

Orientation

minus

Stabilized

minus

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

Make rs398122959(G;G)

Make rs398122959(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6615199

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs398122959
dbSNP (classic)	rs398122959
ClinGen	rs398122959
ebi	rs398122959
HLI	rs398122959
Exac	rs398122959
Gnomad	rs398122959
Varsome	rs398122959
LitVar	rs398122959
Map	rs398122959
PheGenI	rs398122959
Biobank	rs398122959
1000 genomes	rs398122959
hgdp	rs398122959
ensembl	rs398122959
geneview	rs398122959
scholar	rs398122959
google	rs398122959
pharmgkb	rs398122959
gwascentral	rs398122959
openSNP	rs398122959
23andMe	rs398122959
SNPshot	rs398122959
SNPdbe	rs398122959
MSV3d	rs398122959
GWAS Ctlg	rs398122959

Max Magnitude

0

ClinVar
Risk	rs398122959(G;G)
Alt	rs398122959(G;G)
Reference	Rs398122959(T;T)
Significance	Pathogenic
Disease	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Variation	info
Gene	TPP1
CLNDBN	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Reversed	1
HGVS	NC_000011.9:g.6636430A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074609.4,