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rs202199411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202199411(A;A)
Make rs202199411(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position23334368
GeneSACS
is asnp
is mentioned by
dbSNPrs202199411
dbSNP (old)rs202199411
ClinGenrs202199411
ebirs202199411
HLIrs202199411
Exacrs202199411
Gnomadrs202199411
Varsomers202199411
Maprs202199411
PheGenIrs202199411
Biobankrs202199411
1000 genomesrs202199411
hgdprs202199411
ensemblrs202199411
gopubmedrs202199411
geneviewrs202199411
scholarrs202199411
googlers202199411
pharmgkbrs202199411
gwascentralrs202199411
openSNPrs202199411
23andMers202199411
23andMe allrs202199411
SNPshotrs202199411
SNPdbers202199411
MSV3drs202199411
GWAS Ctlgrs202199411
Max Magnitude0
ClinVar
Risk rs202199411(A;A)
Alt rs202199411(A;A)
Reference Rs202199411(G;G)
Significance Pathogenic
Disease not provided Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN not provided Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23908507G>A
CLNSRC
CLNACC RCV000297710.1, RCV000411666.1,