Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs797044484
rs797044484
TP63
G 0.700 CausalMutation CLINVAR Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 19903181

2010
dbSNP: rs137853066
rs137853066
KCNJ10
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554358720
rs1554358720
SLC26A4
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555783467
rs1555783467
SLC52A3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556445736
rs1556445736
COL4A5
G 0.700 CausalMutation CLINVAR

dbSNP: rs1564405163
rs1564405163
GATA3
C 0.700 GeneticVariation CLINVAR