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: rs1291061962
rs1291061962
CLCN7
3 0.882 0.040 16 1456173 missense variant G/A snv 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs387907576
rs387907576
CLCN7
3 0.882 0.040 16 1461460 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs397515539
rs397515539
CLCN7
4 0.851 0.040 16 1459139 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs545589900
rs545589900
IGSF23
1 1.000 0.040 19 44623876 stop gained C/T snv 2.7E-05 7.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs587777490
rs587777490
SNX10
2 0.925 0.040 7 26360996 stop gained C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2013 2013