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rs797045123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045123(-;-)
Make rs797045123(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149923618
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045123
dbSNP (classic)rs797045123
ClinGenrs797045123
ebirs797045123
HLIrs797045123
Exacrs797045123
Gnomadrs797045123
Varsomers797045123
LitVarrs797045123
Maprs797045123
PheGenIrs797045123
Biobankrs797045123
1000 genomesrs797045123
hgdprs797045123
ensemblrs797045123
geneviewrs797045123
scholarrs797045123
googlers797045123
pharmgkbrs797045123
gwascentralrs797045123
openSNPrs797045123
23andMers797045123
SNPshotrs797045123
SNPdbers797045123
MSV3drs797045123
GWAS Ctlgrs797045123
Max Magnitude0
ClinVar
Risk rs797045123(-;-)
Alt rs797045123(-;-)
Reference Rs797045123(C;C)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149895510delG
CLNSRC
CLNACC RCV000190849.1,