rs730882210, MATN4

N. diseases: 6
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.
Diabetes Insipidus
CUI: C0011848
Disease: Diabetes Insipidus
3 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
12 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0