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: rs1430860231
rs1430860231
NT5C2
1 1.000 10 103090935 splice donor variant C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs587777173
rs587777173
NT5C2
1 1.000 10 103174874 stop gained G/A snv 0.700 0
dbSNP: rs587777174
rs587777174
NT5C2
1 1.000 10 103101271 stop gained T/A snv 0.700 0
dbSNP: rs763305896
rs763305896
NT5C2
1 1.000 10 103105782 frameshift variant GT/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs886037656
rs886037656
NT5C2
1 1.000 10 103090983 frameshift variant T/- del 0.700 0
dbSNP: rs886037657
rs886037657
NT5C2
1 1.000 10 103093310 splice acceptor variant C/A snv 0.700 0
dbSNP: rs886037658
rs886037658
NT5C2
1 1.000 10 103139405 splice donor variant C/T snv 0.700 0