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rs730882217

From SNPedia

Orientationminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs730882217(-;-)
Make rs730882217(-;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37153962
GeneC5orf42
is asnp
is mentioned by
dbSNPrs730882217
ebirs730882217
HLIrs730882217
Exacrs730882217
Varsomers730882217
Maprs730882217
PheGenIrs730882217
hapmaprs730882217
1000 genomesrs730882217
hgdprs730882217
ensemblrs730882217
gopubmedrs730882217
geneviewrs730882217
scholarrs730882217
googlers730882217
pharmgkbrs730882217
gwascentralrs730882217
openSNPrs730882217
23andMers730882217
23andMe allrs730882217
SNP Nexus

SNPshotrs730882217
SNPdbers730882217
MSV3drs730882217
GWAS Ctlgrs730882217
Max Magnitude0
ClinVar
Risk rs730882217(;)
Alt rs730882217(;)
Reference rs730882217(GA;GA)
Significance Pathogenic
Disease Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Global developmental delay Typical Joubert syndrome MRI findings Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37154064_37154065delTC
CLNSRC
CLNACC RCV000162127.1, RCV000201763.1,