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rs376672665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376672665(A;A)
Make rs376672665(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position70010807
GeneSMOC1
is asnp
is mentioned by
dbSNPrs376672665
dbSNP (old)rs376672665
ClinGenrs376672665
ebirs376672665
HLIrs376672665
Exacrs376672665
Gnomadrs376672665
Varsomers376672665
Maprs376672665
PheGenIrs376672665
Biobankrs376672665
1000 genomesrs376672665
hgdprs376672665
ensemblrs376672665
gopubmedrs376672665
geneviewrs376672665
scholarrs376672665
googlers376672665
pharmgkbrs376672665
gwascentralrs376672665
openSNPrs376672665
23andMers376672665
23andMe allrs376672665
SNP Nexus

SNPshotrs376672665
SNPdbers376672665
MSV3drs376672665
GWAS Ctlgrs376672665
Max Magnitude0
ClinVar
Risk rs376672665(A;A) rs376672665(T;T)
Alt rs376672665(A;A) rs376672665(T;T)
Reference Rs376672665(C;C)
Significance Pathogenic
Disease Anophthalmos with limb anomalies
Variation info
Gene SMOC1
CLNDBN Anophthalmos with limb anomalies
Reversed 0
HGVS NC_000014.8:g.70477524C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023704.3,