Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559155954
rs1559155954
OBSL1
CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs760929207
rs760929207
OBSL1
G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1057518944
rs1057518944
NIPBL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs139073416
rs139073416
PIGV
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554617582
rs1554617582
TRPS1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569301036
rs1569301036
TAF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906846
rs387906846
ARID1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs763028380
rs763028380
ABCC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs875989803
rs875989803
DDX3X
T 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR