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: rs869025321
rs869025321
SOX5
1 1.000 12 23604491 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1135401816
rs1135401816
SOX5
1 1.000 12 23536546 missense variant G/T snv 0.700 0
dbSNP: rs1555141265
rs1555141265
SOX5
1 1.000 12 23546314 splice donor variant A/T snv 0.700 0
dbSNP: rs1555301854
rs1555301854
SOX5
2 1.000 12 23734746 frameshift variant TT/- del 0.700 0
dbSNP: rs1555307370
rs1555307370
SOX5
4 0.882 0.160 12 23740986 stop gained G/A snv 0.700 0
dbSNP: rs1565669640
rs1565669640
SOX5
1 1.000 12 23543271 missense variant G/A snv 0.700 0
dbSNP: rs767241917
rs767241917
SOX5
1 1.000 12 23740971 stop gained G/A snv 0.700 0