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rs140102105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a pyridoxine-dependent epilepsy mutation
Make rs140102105(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position126577200
GeneALDH7A1
is asnp
is mentioned by
dbSNPrs140102105
dbSNP (classic)rs140102105
ClinGenrs140102105
ebirs140102105
HLIrs140102105
Exacrs140102105
Gnomadrs140102105
Varsomers140102105
LitVarrs140102105
Maprs140102105
PheGenIrs140102105
Biobankrs140102105
1000 genomesrs140102105
hgdprs140102105
ensemblrs140102105
geneviewrs140102105
scholarrs140102105
googlers140102105
pharmgkbrs140102105
gwascentralrs140102105
openSNPrs140102105
23andMers140102105
SNPshotrs140102105
SNPdbers140102105
MSV3drs140102105
GWAS Ctlgrs140102105
Max Magnitude3
ClinVar
Risk rs140102105(G;G)
Alt rs140102105(G;G)
Reference Rs140102105(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ALDH7A1
CLNDBN not provided
Reversed 0
HGVS NC_000005.9:g.125912892C>G
CLNSRC
CLNACC RCV000255047.1,