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rs754279998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
Make rs754279998(-;-)
Make rs754279998(-;AGG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position58208153
GeneMKS1
is asnp
is mentioned by
dbSNPrs754279998
dbSNP (old)rs754279998
ClinGenrs754279998
ebirs754279998
HLIrs754279998
Exacrs754279998
Gnomadrs754279998
Varsomers754279998
Maprs754279998
PheGenIrs754279998
Biobankrs754279998
1000 genomesrs754279998
hgdprs754279998
ensemblrs754279998
gopubmedrs754279998
geneviewrs754279998
scholarrs754279998
googlers754279998
pharmgkbrs754279998
gwascentralrs754279998
openSNPrs754279998
23andMers754279998
23andMe allrs754279998
SNP Nexus

SNPshotrs754279998
SNPdbers754279998
MSV3drs754279998
GWAS Ctlgrs754279998
Max Magnitude0
ClinVar
Risk rs754279998(-;-)
Alt rs754279998(-;-)
Reference Rs754279998(AGG;AGG)
Significance Pathogenic
Disease Joubert syndrome Joubert syndrome 28 Chronic kidney disease Global developmental delay Limb undergrowth Polydactyly Rotary nystagmus
Variation info
Gene MKS1
CLNDBN Joubert syndrome Joubert syndrome 28 Chronic kidney disease Global developmental delay Limb undergrowth Polydactyly Rotary nystagmus
Reversed 0
HGVS NC_000017.10:g.56285514_56285516delAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000201670.1, RCV000241545.1, RCV000414929.1,