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rs797045130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045130(-;-)
Make rs797045130(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149925980
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045130
dbSNP (classic)rs797045130
ClinGenrs797045130
ebirs797045130
HLIrs797045130
Exacrs797045130
Gnomadrs797045130
Varsomers797045130
LitVarrs797045130
Maprs797045130
PheGenIrs797045130
Biobankrs797045130
1000 genomesrs797045130
hgdprs797045130
ensemblrs797045130
geneviewrs797045130
scholarrs797045130
googlers797045130
pharmgkbrs797045130
gwascentralrs797045130
openSNPrs797045130
23andMers797045130
SNPshotrs797045130
SNPdbers797045130
MSV3drs797045130
GWAS Ctlgrs797045130
Max Magnitude0
ClinVar
Risk rs797045130(-;-)
Alt rs797045130(-;-)
Reference Rs797045130(A;A)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897872delT
CLNSRC
CLNACC RCV000190857.1,