Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0