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rs797045871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045871(-;-)
Make rs797045871(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2676515
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045871
dbSNP (classic)rs797045871
ClinGenrs797045871
ebirs797045871
HLIrs797045871
Exacrs797045871
Gnomadrs797045871
Varsomers797045871
LitVarrs797045871
Maprs797045871
PheGenIrs797045871
Biobankrs797045871
1000 genomesrs797045871
hgdprs797045871
ensemblrs797045871
geneviewrs797045871
scholarrs797045871
googlers797045871
pharmgkbrs797045871
gwascentralrs797045871
openSNPrs797045871
23andMers797045871
SNPshotrs797045871
SNPdbers797045871
MSV3drs797045871
GWAS Ctlgrs797045871
Max Magnitude0
ClinVar
Risk rs797045871(-;-)
Alt rs797045871(-;-)
Reference Rs797045871(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579809delG
CLNSRC
CLNACC RCV000193085.1,