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rs730880323

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880323(-;-)
Make rs730880323(-;CCCGG)
Make rs730880323(CCCGG;CCCGG)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position58219176
GeneLOC105371841, MKS1
is asnp
is mentioned by
dbSNPrs730880323
ebirs730880323
HLIrs730880323
Exacrs730880323
Varsomers730880323
Maprs730880323
PheGenIrs730880323
hapmaprs730880323
1000 genomesrs730880323
hgdprs730880323
ensemblrs730880323
gopubmedrs730880323
geneviewrs730880323
scholarrs730880323
googlers730880323
pharmgkbrs730880323
gwascentralrs730880323
openSNPrs730880323
23andMers730880323
23andMe allrs730880323
SNP Nexus

SNPshotrs730880323
SNPdbers730880323
MSV3drs730880323
GWAS Ctlgrs730880323
Max Magnitude0
ClinVar
Risk rs730880323(CCCGG;CCCGG)
Alt rs730880323(CCCGG;CCCGG)
Reference rs730880323(;)
Significance Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56296538_56296542dupCCGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022412.3,