Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009298200
rs1009298200
ALG1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1032242817
rs1032242817
DHCR7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518898
rs1057518898
DYNC2H1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518944
rs1057518944
NIPBL
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499548
rs1060499548
ABL1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1327062642
rs1327062642
TULP1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		TG 0.700 CausalMutation CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942

2017
dbSNP: rs1334099693
rs1334099693
SOX4
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs137853027
rs137853027
DYNC2H1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs137854539
rs137854539
GNAS
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs138659167
rs138659167
DHCR7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555038111
rs1555038111
KMT2A
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555103652
rs1555103652
GRIN2B
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555493029
rs1555493029
COG7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555497604
rs1555497604
COG7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555564126
rs1555564126
EFTUD2
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1559470315
rs1559470315
CTNNB1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559810905
rs1559810905
IFIH1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs1559931177
rs1559931177
QRICH1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR