rs776720232, PGAP3

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Agenesis of maxillary lateral incisor
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
1 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0