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rs797045706

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045706(C;T)
Make rs797045706(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58212996
GeneMKS1
is asnp
is mentioned by
dbSNPrs797045706
ebirs797045706
HLIrs797045706
Exacrs797045706
Varsomers797045706
Maprs797045706
PheGenIrs797045706
hapmaprs797045706
1000 genomesrs797045706
hgdprs797045706
ensemblrs797045706
gopubmedrs797045706
geneviewrs797045706
scholarrs797045706
googlers797045706
pharmgkbrs797045706
gwascentralrs797045706
openSNPrs797045706
23andMers797045706
23andMe allrs797045706
SNP Nexus

SNPshotrs797045706
SNPdbers797045706
MSV3drs797045706
GWAS Ctlgrs797045706
Max Magnitude0
ClinVar
Risk rs797045706(T;T)
Alt rs797045706(T;T)
Reference rs797045706(C;C)
Significance Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56290357G>A
CLNSRC
CLNACC RCV000194216.1,