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: rs137853146
rs137853146
ADAMTS2
1 1.000 0.160 5 179272926 stop gained G/A snv 1.5E-04 5.6E-05 0.700 1.000 6 1992 2008
dbSNP: rs137853147
rs137853147
ADAMTS2
2 1.000 0.160 5 179130005 stop gained C/T snv 0.700 1.000 2 1999 2004
dbSNP: rs1057517277
rs1057517277
ADAMTS2
1 1.000 0.160 5 179128118 splice acceptor variant CTGTGCC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1554123627
rs1554123627
ADAMTS2
1 1.000 0.160 5 179122662 frameshift variant T/- del 0.700 0
dbSNP: rs1554125059
rs1554125059
ADAMTS2
1 1.000 0.160 5 179140026 frameshift variant -/A delins 0.700 0
dbSNP: rs966437723
rs966437723
ADAMTS2
1 1.000 0.160 5 179122644 stop gained G/A;C snv 6.6E-06 0.700 0