rs730882198

Orientation

minus

Stabilized

minus

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

Make rs730882198(-;A)

Make rs730882198(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

36314259

Gene

SPG20

is a	snp
is	mentioned by
dbSNP	rs730882198
dbSNP (classic)	rs730882198
ClinGen	rs730882198
ebi	rs730882198
HLI	rs730882198
Exac	rs730882198
Gnomad	rs730882198
Varsome	rs730882198
LitVar	rs730882198
Map	rs730882198
PheGenI	rs730882198
Biobank	rs730882198
1000 genomes	rs730882198
hgdp	rs730882198
ensembl	rs730882198
geneview	rs730882198
scholar	rs730882198
google	rs730882198
pharmgkb	rs730882198
gwascentral	rs730882198
openSNP	rs730882198
23andMe	rs730882198
SNPshot	rs730882198
SNPdbe	rs730882198
MSV3d	rs730882198
GWAS Ctlg	rs730882198

Max Magnitude

0

ClinVar
Risk	rs730882198(A;A)
Alt	rs730882198(A;A)
Reference	Rs730882198(-;-)
Significance	Probable-Pathogenic
Disease	Ataxia Dysarthria Failure to thrive Global developmental delay Microcephaly Strabismus
Variation	info
Gene	SPG20
CLNDBN	Ataxia Dysarthria Failure to thrive Global developmental delay Microcephaly Strabismus
Reversed	1
HGVS	NC_000013.10:g.36888397dupT
CLNSRC	King Faisal Specialist Hospital and Research Center
CLNACC	RCV000162099.1,