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rs587777716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777716(A;T)
Make rs587777716(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position109791543
GeneFIG4
is asnp
is mentioned by
dbSNPrs587777716
dbSNP (classic)rs587777716
ClinGenrs587777716
ebirs587777716
HLIrs587777716
Exacrs587777716
Gnomadrs587777716
Varsomers587777716
LitVarrs587777716
Maprs587777716
PheGenIrs587777716
Biobankrs587777716
1000 genomesrs587777716
hgdprs587777716
ensemblrs587777716
geneviewrs587777716
scholarrs587777716
googlers587777716
pharmgkbrs587777716
gwascentralrs587777716
openSNPrs587777716
23andMers587777716
SNPshotrs587777716
SNPdbers587777716
MSV3drs587777716
GWAS Ctlgrs587777716
Max Magnitude0
ClinVar
Risk rs587777716(T;T)
Alt rs587777716(T;T)
Reference Rs587777716(A;A)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene FIG4
CLNDBN Polymicrogyria, bilateral temporooccipital
Reversed 0
HGVS NC_000006.11:g.110112746A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144074.6,