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rs200390886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200390886(A;A)
Make rs200390886(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position2670266
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs200390886
ebirs200390886
HLIrs200390886
Exacrs200390886
Varsomers200390886
Maprs200390886
PheGenIrs200390886
hapmaprs200390886
1000 genomesrs200390886
hgdprs200390886
ensemblrs200390886
gopubmedrs200390886
geneviewrs200390886
scholarrs200390886
googlers200390886
pharmgkbrs200390886
gwascentralrs200390886
openSNPrs200390886
23andMers200390886
23andMe allrs200390886
SNP Nexus

SNPshotrs200390886
SNPdbers200390886
MSV3drs200390886
GWAS Ctlgrs200390886
Max Magnitude0
ClinVar
Risk rs200390886(A;A)
Alt rs200390886(A;A)
Reference rs200390886(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573560G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000147041.1,