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: rs797045142
rs797045142
COL17A1
1 1.000 0.080 10 104039613 missense variant G/A snv 0.800 0
dbSNP: rs760714959
rs760714959
COL17A1
2 0.925 0.080 10 104037688 synonymous variant G/A snv 4.0E-06 1.4E-05 0.720 1.000 2 2015 2018