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rs797045858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs797045858(-;CC)
Make rs797045858(CC;CC)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2667088
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045858
dbSNP (classic)rs797045858
ClinGenrs797045858
ebirs797045858
HLIrs797045858
Exacrs797045858
Gnomadrs797045858
Varsomers797045858
LitVarrs797045858
Maprs797045858
PheGenIrs797045858
Biobankrs797045858
1000 genomesrs797045858
hgdprs797045858
ensemblrs797045858
geneviewrs797045858
scholarrs797045858
googlers797045858
pharmgkbrs797045858
gwascentralrs797045858
openSNPrs797045858
23andMers797045858
SNPshotrs797045858
SNPdbers797045858
MSV3drs797045858
GWAS Ctlgrs797045858
Max Magnitude0
ClinVar
Risk rs797045858(CC;CC)
Alt rs797045858(CC;CC)
Reference Rs797045858(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2570381_2570382dupCC
CLNSRC
CLNACC RCV000193550.1,