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rs199910690

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199910690(C;T)
Make rs199910690(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position58206158
GeneMKS1
is asnp
is mentioned by
dbSNPrs199910690
ebirs199910690
HLIrs199910690
Exacrs199910690
Varsomers199910690
Maprs199910690
PheGenIrs199910690
hapmaprs199910690
1000 genomesrs199910690
hgdprs199910690
ensemblrs199910690
gopubmedrs199910690
geneviewrs199910690
scholarrs199910690
googlers199910690
pharmgkbrs199910690
gwascentralrs199910690
openSNPrs199910690
23andMers199910690
23andMe allrs199910690
SNP Nexus

SNPshotrs199910690
SNPdbers199910690
MSV3drs199910690
GWAS Ctlgrs199910690
Max Magnitude0
ClinVar
Risk rs199910690(T;T)
Alt rs199910690(T;T)
Reference rs199910690(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 13
Variation info
Gene MKS1
CLNDBN Bardet-Biedl syndrome 13
Reversed 0
HGVS NC_000017.10:g.56283519C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000161135.3,