Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768663992
rs768663992
CLUAP1
G 0.700 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
dbSNP: rs769705065
rs769705065
CLUAP1
T 0.700 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
dbSNP: rs139455627
rs139455627
TSPEAR
A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1014959895
rs1014959895
PRMT7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691668
rs1131691668
ASXL3
T 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
MFN2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912855
rs121912855
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
PRMT7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553544133
rs1553544133
SATB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267606670
rs267606670
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs281875196
rs281875196
SMARCA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs765243124
rs765243124
COL17A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs875989805
rs875989805
NHS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
A 0.700 GeneticVariation CLINVAR