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rs864321718

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321718(C;G)
Make rs864321718(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position39370222
GeneKIF21A
is asnp
is mentioned by
dbSNPrs864321718
ebirs864321718
HLIrs864321718
Exacrs864321718
Varsomers864321718
Maprs864321718
PheGenIrs864321718
hapmaprs864321718
1000 genomesrs864321718
hgdprs864321718
ensemblrs864321718
gopubmedrs864321718
geneviewrs864321718
scholarrs864321718
googlers864321718
pharmgkbrs864321718
gwascentralrs864321718
openSNPrs864321718
23andMers864321718
23andMe allrs864321718
SNP Nexus

SNPshotrs864321718
SNPdbers864321718
MSV3drs864321718
GWAS Ctlgrs864321718
Max Magnitude0
ClinVar
Risk rs864321718(G;G)
Alt rs864321718(G;G)
Reference rs864321718(C;C)
Significance Pathogenic
Disease Fibrosis of extraocular muscles
Variation info
Gene KIF21A
CLNDBN Fibrosis of extraocular muscles, congenital, 1
Reversed 1
HGVS NC_000012.11:g.39764024G>C
CLNSRC
CLNACC RCV000203609.1,