Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199722402
rs199722402
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777036
rs587777036
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730882212
rs730882212
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882223
rs730882223
G 0.700 GeneticVariation CLINVAR

dbSNP: rs730882224
rs730882224
GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR

dbSNP: rs730882226
rs730882226
G 0.700 GeneticVariation CLINVAR

dbSNP: rs730882227
rs730882227
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs775277800
rs775277800
0.010 GeneticVariation BEFREE These findings reveal that RTTN contributes to building full-length centrioles and illuminate the molecular mechanism through which the RTTN (A578P) mutation causes primary microcephaly.Mutations in many centriolar protein-encoding genes cause primary microcephaly. 28811500

2017

dbSNP: rs121434311
rs121434311
0.010 GeneticVariation BEFREE A natural mutation of CPAP (E1235V) that causes MCPH in humans leads to significantly lower binding to STIL. 22020124

2011