Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516930

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516930(A;A)
Make rs1057516930(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23339578
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516930
dbSNP (old)rs1057516930
ClinGenrs1057516930
ebirs1057516930
HLIrs1057516930
Exacrs1057516930
Gnomadrs1057516930
Varsomers1057516930
Maprs1057516930
PheGenIrs1057516930
Biobankrs1057516930
1000 genomesrs1057516930
hgdprs1057516930
ensemblrs1057516930
gopubmedrs1057516930
geneviewrs1057516930
scholarrs1057516930
googlers1057516930
pharmgkbrs1057516930
gwascentralrs1057516930
openSNPrs1057516930
23andMers1057516930
23andMe allrs1057516930
SNP Nexus

SNPshotrs1057516930
SNPdbers1057516930
MSV3drs1057516930
GWAS Ctlgrs1057516930
Max Magnitude0
ClinVar
Risk rs1057516930(A;A)
Alt rs1057516930(A;A)
Reference Rs1057516930(G;G)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23913717C>T
CLNSRC
CLNACC RCV000410424.1,