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rs387907253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907253(C;T)
Make rs387907253(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position13073055
GeneNFIX
is asnp
is mentioned by
dbSNPrs387907253
dbSNP (classic)rs387907253
ClinGenrs387907253
ebirs387907253
HLIrs387907253
Exacrs387907253
Gnomadrs387907253
Varsomers387907253
LitVarrs387907253
Maprs387907253
PheGenIrs387907253
Biobankrs387907253
1000 genomesrs387907253
hgdprs387907253
ensemblrs387907253
geneviewrs387907253
scholarrs387907253
googlers387907253
pharmgkbrs387907253
gwascentralrs387907253
openSNPrs387907253
23andMers387907253
SNPshotrs387907253
SNPdbers387907253
MSV3drs387907253
GWAS Ctlgrs387907253
Max Magnitude0
ClinVar
Risk rs387907253(T;T)
Alt rs387907253(T;T)
Reference Rs387907253(C;C)
Significance Pathogenic
Disease Sotos syndrome 2
Variation info
Gene NFIX
CLNDBN Sotos syndrome 2
Reversed 0
HGVS NC_000019.9:g.13183869C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030636.25,