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: rs1210062863
rs1210062863
TCEA2 ; SOX18
4 0.925 0.120 20 64048609 stop gained C/A;T snv 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1554809253
rs1554809253
ENG ; LOC102723566
5 1.000 0.080 9 127818223 frameshift variant G/- delins 0.700 0
dbSNP: rs1554810066
rs1554810066
ENG ; LOC105379841
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0