rs104894103

Orientation

minus

Stabilized

minus

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

Make rs104894103(A;A)

Make rs104894103(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

32974495

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs104894103
dbSNP (classic)	rs104894103
ClinGen	rs104894103
ebi	rs104894103
HLI	rs104894103
Exac	rs104894103
Gnomad	rs104894103
Varsome	rs104894103
LitVar	rs104894103
Map	rs104894103
PheGenI	rs104894103
Biobank	rs104894103
1000 genomes	rs104894103
hgdp	rs104894103
ensembl	rs104894103
geneview	rs104894103
scholar	rs104894103
google	rs104894103
pharmgkb	rs104894103
gwascentral	rs104894103
openSNP	rs104894103
23andMe	rs104894103
SNPshot	rs104894103
SNPdbe	rs104894103
MSV3d	rs104894103
GWAS Ctlg	rs104894103

Max Magnitude

0

OMIM	606350
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894103(A;A) rs104894103(C;C)
Alt	rs104894103(A;A) rs104894103(C;C)
Reference	Rs104894103(G;G)
Significance	Pathogenic
Disease	Adult onset ataxia with oculomotor apraxia not provided
Variation	info
Gene	APTX
CLNDBN	Adult onset ataxia with oculomotor apraxia not provided
Reversed	1
HGVS	NC_000009.11:g.32974493C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004681.2, RCV000197775.2,