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rs267606922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606922(C;G)
Make rs267606922(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position50496039
GeneNRXN1
is asnp
is mentioned by
dbSNPrs267606922
ebirs267606922
HLIrs267606922
Exacrs267606922
Varsomers267606922
Maprs267606922
PheGenIrs267606922
hapmaprs267606922
1000 genomesrs267606922
hgdprs267606922
ensemblrs267606922
gopubmedrs267606922
geneviewrs267606922
scholarrs267606922
googlers267606922
pharmgkbrs267606922
gwascentralrs267606922
openSNPrs267606922
23andMers267606922
23andMe allrs267606922
SNP Nexus

SNPshotrs267606922
SNPdbers267606922
MSV3drs267606922
GWAS Ctlgrs267606922
Max Magnitude0
ClinVar
Risk rs267606922(G;G)
Alt rs267606922(G;G)
Reference rs267606922(C;C)
Significance Pathogenic
Disease Pitt-Hopkins-like syndrome 2
Variation info
Gene NRXN1
CLNDBN Pitt-Hopkins-like syndrome 2
Reversed 1
HGVS NC_000002.11:g.50723177G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009608.3,