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rs540217942

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs540217942(C;T)
Make rs540217942(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position19483988
GeneCDC45
is asnp
is mentioned by
dbSNPrs540217942
ebirs540217942
HLIrs540217942
Exacrs540217942
Varsomers540217942
Maprs540217942
PheGenIrs540217942
hapmaprs540217942
1000 genomesrs540217942
hgdprs540217942
ensemblrs540217942
gopubmedrs540217942
geneviewrs540217942
scholarrs540217942
googlers540217942
pharmgkbrs540217942
gwascentralrs540217942
openSNPrs540217942
23andMers540217942
23andMe allrs540217942
SNP Nexus

SNPshotrs540217942
SNPdbers540217942
MSV3drs540217942
GWAS Ctlgrs540217942
Max Magnitude0
ClinVar
Risk rs540217942(T;T)
Alt rs540217942(T;T)
Reference rs540217942(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.19471511C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239541.1,