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

rs794727070

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727070(A;C)
Make rs794727070(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58208585
GeneMKS1
is asnp
is mentioned by
dbSNPrs794727070
ebirs794727070
HLIrs794727070
Exacrs794727070
Varsomers794727070
Maprs794727070
PheGenIrs794727070
hapmaprs794727070
1000 genomesrs794727070
hgdprs794727070
ensemblrs794727070
gopubmedrs794727070
geneviewrs794727070
scholarrs794727070
googlers794727070
pharmgkbrs794727070
gwascentralrs794727070
openSNPrs794727070
23andMers794727070
23andMe allrs794727070
SNP Nexus

SNPshotrs794727070
SNPdbers794727070
MSV3drs794727070
GWAS Ctlgrs794727070
Max Magnitude0
ClinVar
Risk rs794727070(C;C)
Alt rs794727070(C;C)
Reference rs794727070(A;A)
Significance Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56285946T>G
CLNSRC
CLNACC RCV000174384.1,