Have questions? Visit https://www.reddit.com/r/SNPedia

rs748749078

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748749078(C;T)
Make rs748749078(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position19482818
GeneCDC45
is asnp
is mentioned by
dbSNPrs748749078
ebirs748749078
HLIrs748749078
Exacrs748749078
Varsomers748749078
Maprs748749078
PheGenIrs748749078
hapmaprs748749078
1000 genomesrs748749078
hgdprs748749078
ensemblrs748749078
gopubmedrs748749078
geneviewrs748749078
scholarrs748749078
googlers748749078
pharmgkbrs748749078
gwascentralrs748749078
openSNPrs748749078
23andMers748749078
23andMe allrs748749078
SNP Nexus

SNPshotrs748749078
SNPdbers748749078
MSV3drs748749078
GWAS Ctlgrs748749078
Max Magnitude0
ClinVar
Risk rs748749078(T;T)
Alt rs748749078(T;T)
Reference rs748749078(C;C)
Significance Pathogenic
Disease Meier-gorlin syndrome 7
Variation info
Gene CDC45
CLNDBN Meier-gorlin syndrome 7
Reversed 0
HGVS NC_000022.10:g.19470341C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239531.1,