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rs1060505054

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060505054(-;-)
Make rs1060505054(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position61404122
GeneNFIA
is asnp
is mentioned by
dbSNPrs1060505054
dbSNP (old)rs1060505054
ClinGenrs1060505054
ebirs1060505054
HLIrs1060505054
Exacrs1060505054
Gnomadrs1060505054
Varsomers1060505054
Maprs1060505054
PheGenIrs1060505054
Biobankrs1060505054
1000 genomesrs1060505054
hgdprs1060505054
ensemblrs1060505054
gopubmedrs1060505054
geneviewrs1060505054
scholarrs1060505054
googlers1060505054
pharmgkbrs1060505054
gwascentralrs1060505054
openSNPrs1060505054
23andMers1060505054
23andMe allrs1060505054
SNPshotrs1060505054
SNPdbers1060505054
MSV3drs1060505054
GWAS Ctlgrs1060505054
Max Magnitude0
ClinVar
Risk rs1060505054(-;-)
Alt rs1060505054(-;-)
Reference Rs1060505054(C;C)
Significance Pathogenic
Disease Brain malformations and urinary tract defects
Variation info
Gene NFIA
CLNDBN Brain malformations and urinary tract defects
Reversed 0
HGVS NC_000001.10:g.61869794delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000477965.1,