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: rs1357275943
rs1357275943
SOX9 ; SOX9-AS1
1 1.000 0.160 17 72123906 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs754033690
rs754033690
PTPA
1 1.000 0.160 9 129136593 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019