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

rs1057518992

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518992(-;-)
Make rs1057518992(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position61359233
GeneNFIA
is asnp
is mentioned by
dbSNPrs1057518992
dbSNP (old)rs1057518992
ClinGenrs1057518992
ebirs1057518992
HLIrs1057518992
Exacrs1057518992
Gnomadrs1057518992
Varsomers1057518992
Maprs1057518992
PheGenIrs1057518992
Biobankrs1057518992
1000 genomesrs1057518992
hgdprs1057518992
ensemblrs1057518992
gopubmedrs1057518992
geneviewrs1057518992
scholarrs1057518992
googlers1057518992
pharmgkbrs1057518992
gwascentralrs1057518992
openSNPrs1057518992
23andMers1057518992
23andMe allrs1057518992
SNPshotrs1057518992
SNPdbers1057518992
MSV3drs1057518992
GWAS Ctlgrs1057518992
Max Magnitude0
ClinVar
Risk rs1057518992(-;-)
Alt rs1057518992(-;-)
Reference Rs1057518992(G;G)
Significance Probable-Pathogenic
Disease Cleft palate Macrocephaly
Variation info
Gene NFIA
CLNDBN Cleft palate Macrocephaly
Reversed 0
HGVS NC_000001.10:g.61824905delG
CLNSRC
CLNACC RCV000415057.1,