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rs797045857

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045857(-;AAGGTAAC)
Make rs797045857(AAGGTAAC;AAGGTAAC)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2666095
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045857
ClinGenrs797045857
ebirs797045857
HLIrs797045857
Exacrs797045857
Varsomers797045857
Maprs797045857
PheGenIrs797045857
hapmaprs797045857
1000 genomesrs797045857
hgdprs797045857
ensemblrs797045857
gopubmedrs797045857
geneviewrs797045857
scholarrs797045857
googlers797045857
pharmgkbrs797045857
gwascentralrs797045857
openSNPrs797045857
23andMers797045857
23andMe allrs797045857
SNP Nexus

SNPshotrs797045857
SNPdbers797045857
MSV3drs797045857
GWAS Ctlgrs797045857
Max Magnitude0
ClinVar
Risk rs797045857(AAGGTAAC;AAGGTAAC)
Alt rs797045857(AAGGTAAC;AAGGTAAC)
Reference Rs797045857(;)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569382_2569389dupAAGGTAAC
CLNSRC
CLNACC RCV000192347.1,