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rs730882198

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882198(-;-)
Make rs730882198(-;A)
Make rs730882198(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position36314259
GeneSPG20
is asnp
is mentioned by
dbSNPrs730882198
ebirs730882198
HLIrs730882198
Exacrs730882198
Varsomers730882198
Maprs730882198
PheGenIrs730882198
hapmaprs730882198
1000 genomesrs730882198
hgdprs730882198
ensemblrs730882198
gopubmedrs730882198
geneviewrs730882198
scholarrs730882198
googlers730882198
pharmgkbrs730882198
gwascentralrs730882198
openSNPrs730882198
23andMers730882198
23andMe allrs730882198
SNP Nexus

SNPshotrs730882198
SNPdbers730882198
MSV3drs730882198
GWAS Ctlgrs730882198
Max Magnitude0
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,