Source: ALL

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: rs775394591
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 0
dbSNP: rs775394591
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.700 0
dbSNP: rs775394591
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.700 0
dbSNP: rs775394591
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs775394591
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0