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rs113994102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994102(C;T)
Make rs113994102(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position79710825
GeneCTDP1
is asnp
is mentioned by
dbSNPrs113994102
ebirs113994102
HLIrs113994102
Exacrs113994102
Varsomers113994102
Maprs113994102
PheGenIrs113994102
hapmaprs113994102
1000 genomesrs113994102
hgdprs113994102
ensemblrs113994102
gopubmedrs113994102
geneviewrs113994102
scholarrs113994102
googlers113994102
pharmgkbrs113994102
gwascentralrs113994102
openSNPrs113994102
23andMers113994102
23andMe allrs113994102
SNP Nexus

SNPshotrs113994102
SNPdbers113994102
MSV3drs113994102
GWAS Ctlgrs113994102
Max Magnitude0
OMIM604927
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994102(T;T)
Alt rs113994102(T;T)
Reference rs113994102(C;C)
Significance Pathogenic
Disease Congenital Cataracts
Variation info
Gene CTDP1
CLNDBN Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Reversed 0
HGVS NC_000018.9:g.77470825C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005622.1,