Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1014959895
rs1014959895
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding)
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0349588
Disease: Short stature
Short stature
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0028754
Disease: Obesity
Obesity
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
T 0.700 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
T 0.700 CausalMutation CLINVAR