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rs1057519451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519451(A;G)
Make rs1057519451(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position78709310
GeneLOC105370589, NRXN3
is asnp
is mentioned by
dbSNPrs1057519451
dbSNP (classic)rs1057519451
ClinGenrs1057519451
ebirs1057519451
HLIrs1057519451
Exacrs1057519451
Gnomadrs1057519451
Varsomers1057519451
LitVarrs1057519451
Maprs1057519451
PheGenIrs1057519451
Biobankrs1057519451
1000 genomesrs1057519451
hgdprs1057519451
ensemblrs1057519451
geneviewrs1057519451
scholarrs1057519451
googlers1057519451
pharmgkbrs1057519451
gwascentralrs1057519451
openSNPrs1057519451
23andMers1057519451
23andMe allrs1057519451
SNPshotrs1057519451
SNPdbers1057519451
MSV3drs1057519451
GWAS Ctlgrs1057519451
Max Magnitude0
ClinVar
Risk rs1057519451(G;G)
Alt rs1057519451(G;G)
Reference Rs1057519451(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.79175653A>G
CLNSRC
CLNACC RCV000416434.1,