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rs863225465

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225465(C;G)
Make rs863225465(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position132734559
GeneANKLE2
is asnp
is mentioned by
dbSNPrs863225465
ebirs863225465
HLIrs863225465
Exacrs863225465
Varsomers863225465
Maprs863225465
PheGenIrs863225465
hapmaprs863225465
1000 genomesrs863225465
hgdprs863225465
ensemblrs863225465
gopubmedrs863225465
geneviewrs863225465
scholarrs863225465
googlers863225465
pharmgkbrs863225465
gwascentralrs863225465
openSNPrs863225465
23andMers863225465
23andMe allrs863225465
SNP Nexus

SNPshotrs863225465
SNPdbers863225465
MSV3drs863225465
GWAS Ctlgrs863225465
Max Magnitude0
ClinVar
Risk rs863225465(G;G)
Alt rs863225465(G;G)
Reference rs863225465(C;C)
Significance Pathogenic
Disease Microcephaly 16 Microcephaly
Variation info
Gene LOC101928485 ANKLE2
CLNDBN Microcephaly 16, primary, autosomal recessive Microcephaly
Reversed 1
HGVS NC_000012.11:g.133311145G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202421.2, RCV000203271.1,