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rs531047390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs531047390(A;G)
Make rs531047390(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position78968349
GeneNRXN3
is asnp
is mentioned by
dbSNPrs531047390
dbSNP (classic)rs531047390
ClinGenrs531047390
ebirs531047390
HLIrs531047390
Exacrs531047390
Gnomadrs531047390
Varsomers531047390
LitVarrs531047390
Maprs531047390
PheGenIrs531047390
Biobankrs531047390
1000 genomesrs531047390
hgdprs531047390
ensemblrs531047390
geneviewrs531047390
scholarrs531047390
googlers531047390
pharmgkbrs531047390
gwascentralrs531047390
openSNPrs531047390
23andMers531047390
SNPshotrs531047390
SNPdbers531047390
MSV3drs531047390
GWAS Ctlgrs531047390
Max Magnitude0
ClinVar
Risk rs531047390(G;G)
Alt rs531047390(G;G)
Reference Rs531047390(A;A)
Significance Pathogenic
Disease Relative macrocephaly Short stature
Variation info
Gene NRXN3
CLNDBN Relative macrocephaly Short stature
Reversed 0
HGVS NC_000014.8:g.79434692A>G
CLNSRC
CLNACC RCV000416453.1,