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rs797045870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045870(-;C)
Make rs797045870(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2674217
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045870
dbSNP (classic)rs797045870
ClinGenrs797045870
ebirs797045870
HLIrs797045870
Exacrs797045870
Gnomadrs797045870
Varsomers797045870
LitVarrs797045870
Maprs797045870
PheGenIrs797045870
Biobankrs797045870
1000 genomesrs797045870
hgdprs797045870
ensemblrs797045870
geneviewrs797045870
scholarrs797045870
googlers797045870
pharmgkbrs797045870
gwascentralrs797045870
openSNPrs797045870
23andMers797045870
SNPshotrs797045870
SNPdbers797045870
MSV3drs797045870
GWAS Ctlgrs797045870
Max Magnitude0
ClinVar
Risk rs797045870(C;C)
Alt rs797045870(C;C)
Reference Rs797045870(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577511dupC
CLNSRC
CLNACC RCV000195211.1,