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rs797045868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
Make rs797045868(CTG;TGACCCA)
Make rs797045868(TGACCCA;TGACCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2674158
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045868
dbSNP (old)rs797045868
ClinGenrs797045868
ebirs797045868
HLIrs797045868
Exacrs797045868
Varsomers797045868
Maprs797045868
PheGenIrs797045868
Biobankrs797045868
1000 genomesrs797045868
hgdprs797045868
ensemblrs797045868
gopubmedrs797045868
geneviewrs797045868
scholarrs797045868
googlers797045868
pharmgkbrs797045868
gwascentralrs797045868
openSNPrs797045868
23andMers797045868
23andMe allrs797045868
SNP Nexus

SNPshotrs797045868
SNPdbers797045868
MSV3drs797045868
GWAS Ctlgrs797045868
Max Magnitude0
ClinVar
Risk rs797045868(TGACCCA;TGACCCA)
Alt rs797045868(TGACCCA;TGACCCA)
Reference Rs797045868(CTG;CTG)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577452_2577454delCTGinsTGACCCA
CLNSRC
CLNACC RCV000192780.1,