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rs200652608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200652608(A;A)
Make rs200652608(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88807407
GeneCDT1
is asnp
is mentioned by
dbSNPrs200652608
ebirs200652608
HLIrs200652608
Exacrs200652608
Varsomers200652608
Maprs200652608
PheGenIrs200652608
hapmaprs200652608
1000 genomesrs200652608
hgdprs200652608
ensemblrs200652608
gopubmedrs200652608
geneviewrs200652608
scholarrs200652608
googlers200652608
pharmgkbrs200652608
gwascentralrs200652608
openSNPrs200652608
23andMers200652608
23andMe allrs200652608
SNP Nexus

SNPshotrs200652608
SNPdbers200652608
MSV3drs200652608
GWAS Ctlgrs200652608
Max Magnitude0
ClinVar
Risk rs200652608(A;A) rs200652608(C;C)
Alt rs200652608(A;A) rs200652608(C;C)
Reference Rs200652608(G;G)
Significance Pathogenic
Disease Meier-Gorlin syndrome 4
Variation info
Gene CDT1
CLNDBN Meier-Gorlin syndrome 4
Reversed 0
HGVS NC_000016.9:g.88873815G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023459.4,