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rs794727958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAA;AAAA) 0 common in clinvar
Make rs794727958(-;-)
Make rs794727958(-;AAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2676511
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs794727958
ClinGenrs794727958
ebirs794727958
HLIrs794727958
Exacrs794727958
Varsomers794727958
Maprs794727958
PheGenIrs794727958
hapmaprs794727958
1000 genomesrs794727958
hgdprs794727958
ensemblrs794727958
gopubmedrs794727958
geneviewrs794727958
scholarrs794727958
googlers794727958
pharmgkbrs794727958
gwascentralrs794727958
openSNPrs794727958
23andMers794727958
23andMe allrs794727958
SNP Nexus

SNPshotrs794727958
SNPdbers794727958
MSV3drs794727958
GWAS Ctlgrs794727958
Max Magnitude0
ClinVar
Risk rs794727958(-;-)
Alt rs794727958(-;-)
Reference Rs794727958(AAAA;AAAA)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579805_2579808delAAAA
CLNSRC
CLNACC RCV000180504.1,