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

rs863225305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225305(A;A)
Make rs863225305(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position46045891
GeneSLC12A5
is asnp
is mentioned by
dbSNPrs863225305
dbSNP (classic)rs863225305
ClinGenrs863225305
ebirs863225305
HLIrs863225305
Exacrs863225305
Gnomadrs863225305
Varsomers863225305
LitVarrs863225305
Maprs863225305
PheGenIrs863225305
Biobankrs863225305
1000 genomesrs863225305
hgdprs863225305
ensemblrs863225305
geneviewrs863225305
scholarrs863225305
googlers863225305
pharmgkbrs863225305
gwascentralrs863225305
openSNPrs863225305
23andMers863225305
SNPshotrs863225305
SNPdbers863225305
MSV3drs863225305
GWAS Ctlgrs863225305
Max Magnitude0
ClinVar
Risk rs863225305(A;A)
Alt rs863225305(A;A)
Reference Rs863225305(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 34
Variation info
Gene SLC12A5
CLNDBN Early infantile epileptic encephalopathy 34
Reversed 0
HGVS NC_000020.10:g.44674530G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202007.2,