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rs587784276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784276(A;A)
Make rs587784276(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672743
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784276
dbSNP (classic)rs587784276
ClinGenrs587784276
ebirs587784276
HLIrs587784276
Exacrs587784276
Gnomadrs587784276
Varsomers587784276
LitVarrs587784276
Maprs587784276
PheGenIrs587784276
Biobankrs587784276
1000 genomesrs587784276
hgdprs587784276
ensemblrs587784276
geneviewrs587784276
scholarrs587784276
googlers587784276
pharmgkbrs587784276
gwascentralrs587784276
openSNPrs587784276
23andMers587784276
SNPshotrs587784276
SNPdbers587784276
MSV3drs587784276
GWAS Ctlgrs587784276
Max Magnitude0
ClinVar
Risk rs587784276(A;A) rs587784276(T;T)
Alt rs587784276(A;A) rs587784276(T;T)
Reference Rs587784276(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576037G>A
CLNSRC
CLNACC RCV000147049.1,