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rs367600930

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367600930(C;G)
Make rs367600930(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position123399153
GeneCEP120
is asnp
is mentioned by
dbSNPrs367600930
ebirs367600930
HLIrs367600930
Exacrs367600930
Varsomers367600930
Maprs367600930
PheGenIrs367600930
hapmaprs367600930
1000 genomesrs367600930
hgdprs367600930
ensemblrs367600930
gopubmedrs367600930
geneviewrs367600930
scholarrs367600930
googlers367600930
pharmgkbrs367600930
gwascentralrs367600930
openSNPrs367600930
23andMers367600930
23andMe allrs367600930
SNP Nexus

SNPshotrs367600930
SNPdbers367600930
MSV3drs367600930
GWAS Ctlgrs367600930
Max Magnitude0
ClinVar
Risk rs367600930(G;G)
Alt rs367600930(G;G)
Reference rs367600930(C;C)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 13 with or without polydactyly
Variation info
Gene CEP120
CLNDBN Short-rib thoracic dysplasia 13 with or without polydactyly
Reversed 0
HGVS NC_000005.9:g.122734847C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000169771.3,