Gene: COL5A2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553517181
rs1553517181
COL5A2
2 0.925 0.040 2 189084028 missense variant C/T snv 0.700 0
dbSNP: rs770974455
rs770974455
COL5A2
2 0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06 0.700 0