Source: CLINVAR

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: rs730882219
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05
CUI: C4693567
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 		0.800 0
dbSNP: rs730882219
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs730882219
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882219
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0