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rs886042846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome2
Position50465563
GeneNRXN1
is asnp
is mentioned by
dbSNPrs886042846
dbSNP (classic)rs886042846
ClinGenrs886042846
ebirs886042846
HLIrs886042846
Exacrs886042846
Gnomadrs886042846
Varsomers886042846
LitVarrs886042846
Maprs886042846
PheGenIrs886042846
Biobankrs886042846
1000 genomesrs886042846
hgdprs886042846
ensemblrs886042846
geneviewrs886042846
scholarrs886042846
googlers886042846
pharmgkbrs886042846
gwascentralrs886042846
openSNPrs886042846
23andMers886042846
SNPshotrs886042846
SNPdbers886042846
MSV3drs886042846
GWAS Ctlgrs886042846
Max Magnitude0
ClinVar
Risk rs886042846(C;C)
Alt rs886042846(C;C)
Reference Rs886042846(T;T)
Significance Pathogenic
Disease Pitt-Hopkins-like syndrome 2
Variation info
Gene NRXN1
CLNDBN Pitt-Hopkins-like syndrome 2
Reversed 0
HGVS NC_000002.11:g.50692701T>C
CLNSRC
CLNACC RCV000397801.1,