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: rs587783613
rs587783613
EBP
2 0.925 0.120 X 48527015 stop gained C/T snv 0.700 0
dbSNP: rs587783614
rs587783614
EBP
1 1.000 0.040 X 48527018 missense variant T/C snv 0.700 0
dbSNP: rs587783615
rs587783615
EBP
1 1.000 0.040 X 48527277 frameshift variant CT/- delins 0.700 0
dbSNP: rs587783616
rs587783616
EBP
1 1.000 0.040 X 48528244 stop gained T/G snv 0.700 0
dbSNP: rs587783617
rs587783617
EBP
1 1.000 0.040 X 48528245 missense variant G/A snv 0.700 0
dbSNP: rs587783618
rs587783618
EBP
1 1.000 0.040 X 48528291 missense variant A/G snv 0.700 0
dbSNP: rs587783619
rs587783619
EBP
1 1.000 0.040 X 48528396 missense variant T/G snv 0.700 0
dbSNP: rs797045542
rs797045542
EBP
1 1.000 0.040 X 48523969 inframe insertion -/CTG delins 0.700 0
dbSNP: rs797045543
rs797045543
EBP
1 1.000 0.040 X 48523994 frameshift variant -/T delins 0.700 0
dbSNP: rs797045544
rs797045544
EBP
1 1.000 0.040 X 48527015 stop gained -/GATA delins 0.700 0
dbSNP: rs797045545
rs797045545
EBP
1 1.000 0.040 X 48527185 protein altering variant CATCACAGCTT/AG delins 0.700 0
dbSNP: rs797045546
rs797045546
EBP
1 1.000 0.040 X 48527239 frameshift variant CCGCC/T delins 0.700 0
dbSNP: rs797045547
rs797045547
EBP
1 1.000 0.040 X 48528244 frameshift variant -/G delins 0.700 0
dbSNP: rs797045153
rs797045153
EBP
2 0.925 0.040 X 48523995 missense variant T/A snv 0.010 1.000 1 2014 2014