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: rs1554776500
rs1554776500
SET
1 1.000 9 128691970 missense variant T/G snv 0.800 1.000 2 2014 2018
dbSNP: rs1554776342
rs1554776342
SET
2 1.000 9 128691222 frameshift variant ACAG/- delins 0.700 0
dbSNP: rs1554776933
rs1554776933
SET
1 1.000 9 128693794 frameshift variant -/TA delins 0.700 0
dbSNP: rs1554776938
rs1554776938
SET
1 1.000 9 128693805 stop gained CTT/- del 0.700 0
dbSNP: rs1564360978
rs1564360978
SET
1 1.000 9 128692700 missense variant C/T snv 0.700 0