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rs587784235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784235(A;A)
Make rs587784235(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2676611
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784235
dbSNP (classic)rs587784235
ClinGenrs587784235
ebirs587784235
HLIrs587784235
Exacrs587784235
Gnomadrs587784235
Varsomers587784235
LitVarrs587784235
Maprs587784235
PheGenIrs587784235
Biobankrs587784235
1000 genomesrs587784235
hgdprs587784235
ensemblrs587784235
geneviewrs587784235
scholarrs587784235
googlers587784235
pharmgkbrs587784235
gwascentralrs587784235
openSNPrs587784235
23andMers587784235
SNPshotrs587784235
SNPdbers587784235
MSV3drs587784235
GWAS Ctlgrs587784235
Max Magnitude0
ClinVar
Risk rs587784235(A;A)
Alt rs587784235(A;A)
Reference Rs587784235(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579905G>A
CLNSRC
CLNACC RCV000147002.1,