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rs797045131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045131(-;CCCA)
Make rs797045131(CCCA;CCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149926417
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045131
dbSNP (old)rs797045131
ClinGenrs797045131
ebirs797045131
HLIrs797045131
Exacrs797045131
Gnomadrs797045131
Varsomers797045131
Maprs797045131
PheGenIrs797045131
Biobankrs797045131
1000 genomesrs797045131
hgdprs797045131
ensemblrs797045131
gopubmedrs797045131
geneviewrs797045131
scholarrs797045131
googlers797045131
pharmgkbrs797045131
gwascentralrs797045131
openSNPrs797045131
23andMers797045131
23andMe allrs797045131
SNP Nexus

SNPshotrs797045131
SNPdbers797045131
MSV3drs797045131
GWAS Ctlgrs797045131
Max Magnitude0
ClinVar
Risk rs797045131(CCCA;CCCA)
Alt rs797045131(CCCA;CCCA)
Reference Rs797045131(-;-)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149898310_149898313dupTGGG
CLNSRC
CLNACC RCV000190858.1,