Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518883
rs1057518883
FBN1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797103
rs1064797103
OTUD6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908188
rs121908188
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554122802
rs1554122802
FBN2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555398397
rs1555398397
FBN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1559470315
rs1559470315
CTNNB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567263168
rs1567263168
CREBBP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199564797
rs199564797
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs387907260
rs387907260
KCTD7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs63750687
rs63750687
PSEN1
T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
dbSNP: rs745886248
rs745886248
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR