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rs863223317

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223317(A;A)
Make rs863223317(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position69994481
GeneSMOC1
is asnp
is mentioned by
dbSNPrs863223317
ebirs863223317
HLIrs863223317
Exacrs863223317
Varsomers863223317
Maprs863223317
PheGenIrs863223317
hapmaprs863223317
1000 genomesrs863223317
hgdprs863223317
ensemblrs863223317
gopubmedrs863223317
geneviewrs863223317
scholarrs863223317
googlers863223317
pharmgkbrs863223317
gwascentralrs863223317
openSNPrs863223317
23andMers863223317
23andMe allrs863223317
SNP Nexus

SNPshotrs863223317
SNPdbers863223317
MSV3drs863223317
GWAS Ctlgrs863223317
Max Magnitude0
ClinVar
Risk rs863223317(A;A)
Alt rs863223317(A;A)
Reference rs863223317(G;G)
Significance Pathogenic
Disease Anophthalmos with limb anomalies
Variation info
Gene SMOC1
CLNDBN Anophthalmos with limb anomalies
Reversed 0
HGVS NC_000014.8:g.70461198G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023705.3,