Source: BEFREE

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: rs745732650
rs745732650
MMP2
1.000 0.080 16 55485700 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2018 2018