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rs201785518

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201785518(A;A)
Make rs201785518(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position132729818
GeneANKLE2
is asnp
is mentioned by
dbSNPrs201785518
ebirs201785518
HLIrs201785518
Exacrs201785518
Varsomers201785518
Maprs201785518
PheGenIrs201785518
hapmaprs201785518
1000 genomesrs201785518
hgdprs201785518
ensemblrs201785518
gopubmedrs201785518
geneviewrs201785518
scholarrs201785518
googlers201785518
pharmgkbrs201785518
gwascentralrs201785518
openSNPrs201785518
23andMers201785518
23andMe allrs201785518
SNP Nexus

SNPshotrs201785518
SNPdbers201785518
MSV3drs201785518
GWAS Ctlgrs201785518
Max Magnitude0
ClinVar
Risk rs201785518(A;A)
Alt rs201785518(A;A)
Reference rs201785518(G;G)
Significance Pathogenic
Disease Microcephaly 16 Microcephaly
Variation info
Gene ANKLE2
CLNDBN Microcephaly 16, primary, autosomal recessive Microcephaly
Reversed 0
HGVS NC_000012.11:g.133306404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202417.1, RCV000203262.1,