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rs786204750

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204750(C;T)
Make rs786204750(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23336600
GeneSACS
is asnp
is mentioned by
dbSNPrs786204750
ebirs786204750
HLIrs786204750
Exacrs786204750
Varsomers786204750
Maprs786204750
PheGenIrs786204750
hapmaprs786204750
1000 genomesrs786204750
hgdprs786204750
ensemblrs786204750
gopubmedrs786204750
geneviewrs786204750
scholarrs786204750
googlers786204750
pharmgkbrs786204750
gwascentralrs786204750
openSNPrs786204750
23andMers786204750
23andMe allrs786204750
SNP Nexus

SNPshotrs786204750
SNPdbers786204750
MSV3drs786204750
GWAS Ctlgrs786204750
Max Magnitude0
ClinVar
Risk rs786204750(T;T)
Alt rs786204750(T;T)
Reference rs786204750(C;C)
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.23910739G>A
CLNSRC Counsyl
CLNACC RCV000169603.1, RCV000197883.1,