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: rs1277121650
rs1277121650
CAST
1 5 96746364 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1355799280
rs1355799280
CAST
1 5 96742749 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799865
rs1799865
CCR2
2 1.000 0.040 3 46358307 synonymous variant T/C snv 0.32 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs3918358
rs3918358
CCR2
1 3 46352928 upstream gene variant C/A snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs750877321
rs750877321
CAST
1 5 96741291 missense variant T/C snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs774652019
rs774652019
CAST ; ERAP1
1 5 96765222 splice acceptor variant A/G;T snv 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs779255105
rs779255105
CAST ; ERAP1
1 5 96762316 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014