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: rs1554581757
rs1554581757
CHD7
4 0.882 0.120 8 60742945 stop gained C/T snv 0.700 0
dbSNP: rs121908403
rs121908403
SPINT2
5 0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04 0.010 1.000 1 2018 2018