Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs104894396
rs104894396
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553200431
rs1553200431
COL11A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553517323
rs1553517323
COL5A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554844486
rs1554844486
KAT6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555043939
rs1555043939
KMT2A
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1559320299
rs1559320299
PAX3 ; CCDC140
A 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516827
rs397516827
RAF1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794727774
rs794727774
FUCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR