Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C0151526
Disease: Premature Birth
Premature Birth 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C0151526
Disease: Premature Birth
Premature Birth 		C 0.700 CausalMutation CLINVAR

dbSNP: rs137854539
rs137854539
GNAS
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
CUI: C0151526
Disease: Premature Birth
Premature Birth 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs1553193507
rs1553193507
NOTCH2
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555727493
rs1555727493
KMT2B
CUI: C0151526
Disease: Premature Birth
Premature Birth 		TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555793103
rs1555793103
MYO5B ; SNHG22
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555793199
rs1555793199
MYO5B ; SNHG22
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559810905
rs1559810905
IFIH1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs1560755661
rs1560755661
TBCK
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1567010427
rs1567010427
DYNC1H1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177039
rs180177039
BRAF
CUI: C0151526
Disease: Premature Birth
Premature Birth 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs190521996
rs190521996
PMM2
CUI: C0151526
Disease: Premature Birth
Premature Birth 		C 0.700 CausalMutation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 CausalMutation CLINVAR

dbSNP: rs201943194
rs201943194
DNAH11
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
CUI: C0151526
Disease: Premature Birth
Premature Birth 		A 0.700 CausalMutation CLINVAR