Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167457
rs1114167457
PLAA
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT

dbSNP: rs1114167457
rs1114167457
PLAA
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR

dbSNP: rs747956857
rs747956857
PLAA ; IFT74
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		A 0.800 CausalMutation CLINVAR

dbSNP: rs747956857
rs747956857
PLAA ; IFT74
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.800 GeneticVariation UNIPROT

dbSNP: rs13299556
rs13299556
PLAA
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		C 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of functional outcome after ischemic stroke. 30796134

2019
dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0432028
Disease: Split foot
Split foot 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0221373
Disease: Claw hand
Claw hand 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554662408
rs1554662408
PLAA ; IFT74
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs7863476
rs7863476
PLAA
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.700 GeneticVariation GWASDB Common variant at 16p11.2 conferring risk of psychosis. 23164818

2014
dbSNP: rs7863476
rs7863476
PLAA
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation GWASDB Common variants at VRK2 and TCF4 conferring risk of schizophrenia. 21791550

2011
dbSNP: rs7871286
rs7871286
PLAA
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178

2013