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rs140845195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a pyridoxine-dependent epilepsy mutation
(C;C) 0 common in clinvar


Make rs140845195(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position126545020
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs140845195
dbSNP (classic)rs140845195
ClinGenrs140845195
ebirs140845195
HLIrs140845195
Exacrs140845195
Gnomadrs140845195
Varsomers140845195
LitVarrs140845195
Maprs140845195
PheGenIrs140845195
Biobankrs140845195
1000 genomesrs140845195
hgdprs140845195
ensemblrs140845195
geneviewrs140845195
scholarrs140845195
googlers140845195
pharmgkbrs140845195
gwascentralrs140845195
openSNPrs140845195
23andMers140845195
SNPshotrs140845195
SNPdbers140845195
MSV3drs140845195
GWAS Ctlgrs140845195
Max Magnitude3
ClinVar
Risk rs140845195(A;A) rs140845195(T;T)
Alt rs140845195(A;A) rs140845195(T;T)
Reference Rs140845195(C;C)
Significance Pathogenic
Disease Seizures Ventriculomegaly
Variation info
Gene ALDH7A1
CLNDBN Seizures Ventriculomegaly
Reversed 0
HGVS NC_000005.9:g.125880712C>A
CLNSRC
CLNACC RCV000414868.1,