Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CACCCCCAGTGCC;CACCCCCAGTGCC) 0 common in clinvar
Make rs797045957(-;-)
Make rs797045957(-;CACCCCCAGTGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149926006
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045957
dbSNP (classic)rs797045957
ClinGenrs797045957
ebirs797045957
HLIrs797045957
Exacrs797045957
Gnomadrs797045957
Varsomers797045957
LitVarrs797045957
Maprs797045957
PheGenIrs797045957
Biobankrs797045957
1000 genomesrs797045957
hgdprs797045957
ensemblrs797045957
geneviewrs797045957
scholarrs797045957
googlers797045957
pharmgkbrs797045957
gwascentralrs797045957
openSNPrs797045957
23andMers797045957
SNPshotrs797045957
SNPdbers797045957
MSV3drs797045957
GWAS Ctlgrs797045957
Max Magnitude0
ClinVar
Risk rs797045957(-;-)
Alt rs797045957(-;-)
Reference Rs797045957(CACCCCCAGTGCC;CACCCCCAGTGCC)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897898_149897910delGGCACTGGGGGTG
CLNSRC
CLNACC RCV000193286.1,