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rs747680111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747680111(-;-)
Make rs747680111(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position50758548
GeneNIN
is asnp
is mentioned by
dbSNPrs747680111
dbSNP (classic)rs747680111
ClinGenrs747680111
ebirs747680111
HLIrs747680111
Exacrs747680111
Gnomadrs747680111
Varsomers747680111
LitVarrs747680111
Maprs747680111
PheGenIrs747680111
Biobankrs747680111
1000 genomesrs747680111
hgdprs747680111
ensemblrs747680111
geneviewrs747680111
scholarrs747680111
googlers747680111
pharmgkbrs747680111
gwascentralrs747680111
openSNPrs747680111
23andMers747680111
SNPshotrs747680111
SNPdbers747680111
MSV3drs747680111
GWAS Ctlgrs747680111
Max Magnitude0
ClinVar
Risk rs747680111(-;-)
Alt rs747680111(-;-)
Reference Rs747680111(T;T)
Significance Pathogenic
Disease Seckel syndrome 7
Variation info
Gene NIN
CLNDBN Seckel syndrome 7
Reversed 0
HGVS NC_000014.8:g.51225266delT
CLNSRC
CLNACC RCV000194344.1,