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rs797045129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045129(-;A)
Make rs797045129(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149925952
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045129
dbSNP (classic)rs797045129
ClinGenrs797045129
ebirs797045129
HLIrs797045129
Exacrs797045129
Gnomadrs797045129
Varsomers797045129
LitVarrs797045129
Maprs797045129
PheGenIrs797045129
Biobankrs797045129
1000 genomesrs797045129
hgdprs797045129
ensemblrs797045129
geneviewrs797045129
scholarrs797045129
googlers797045129
pharmgkbrs797045129
gwascentralrs797045129
openSNPrs797045129
23andMers797045129
SNPshotrs797045129
SNPdbers797045129
MSV3drs797045129
GWAS Ctlgrs797045129
Max Magnitude0
ClinVar
Risk rs797045129(A;A)
Alt rs797045129(A;A)
Reference Rs797045129(-;-)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897845dupT
CLNSRC
CLNACC RCV000190856.1,