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

rs749244650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749244650(A;A)
Make rs749244650(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127682465
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs749244650
dbSNP (classic)rs749244650
ClinGenrs749244650
ebirs749244650
HLIrs749244650
Exacrs749244650
Gnomadrs749244650
Varsomers749244650
LitVarrs749244650
Maprs749244650
PheGenIrs749244650
Biobankrs749244650
1000 genomesrs749244650
hgdprs749244650
ensemblrs749244650
geneviewrs749244650
scholarrs749244650
googlers749244650
pharmgkbrs749244650
gwascentralrs749244650
openSNPrs749244650
23andMers749244650
SNPshotrs749244650
SNPdbers749244650
MSV3drs749244650
GWAS Ctlgrs749244650
Max Magnitude0
ClinVar
Risk rs749244650(A;A)
Alt rs749244650(A;A)
Reference Rs749244650(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130444744G>A
CLNSRC
CLNACC RCV000189621.1,