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rs797045867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045867(-;ATCAA)
Make rs797045867(ATCAA;ATCAA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2674120
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045867
dbSNP (old)rs797045867
ClinGenrs797045867
ebirs797045867
HLIrs797045867
Exacrs797045867
Gnomadrs797045867
Varsomers797045867
Maprs797045867
PheGenIrs797045867
Biobankrs797045867
1000 genomesrs797045867
hgdprs797045867
ensemblrs797045867
gopubmedrs797045867
geneviewrs797045867
scholarrs797045867
googlers797045867
pharmgkbrs797045867
gwascentralrs797045867
openSNPrs797045867
23andMers797045867
23andMe allrs797045867
SNP Nexus

SNPshotrs797045867
SNPdbers797045867
MSV3drs797045867
GWAS Ctlgrs797045867
Max Magnitude0
ClinVar
Risk rs797045867(CAAAT;CAAAT)
Alt rs797045867(CAAAT;CAAAT)
Reference Rs797045867(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577410_2577414dupATCAA
CLNSRC
CLNACC RCV000194563.1,