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: rs243865
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19
CUI: C0085666
Disease: Spider nevus
Spider nevus 		0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0085666
Disease: Spider nevus
Spider nevus 		0.010 1.000 1 2018 2018