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: rs1040254222
rs1040254222
TRPM7
1 1.000 0.080 15 50611215 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs1158962067
rs1158962067
CDC42BPB
1 1.000 0.080 14 102975693 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121913473
rs121913473
FGFR1
2 1.000 0.080 8 38428420 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1228276529
rs1228276529
CAMK1G
1 1.000 0.080 1 209612203 missense variant G/A snv 0.700 0
dbSNP: rs1336054298
rs1336054298
TTN ; TTN-AS1
1 1.000 0.080 2 178590298 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs1428512439
rs1428512439
TESK2
1 1.000 0.080 1 45457754 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1490814436
rs1490814436
CDK15
1 1.000 0.080 2 201835740 missense variant A/T snv 1.2E-05 0.700 0
dbSNP: rs576644663
rs576644663
TTN ; TTN-AS1
1 1.000 0.080 2 178770479 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs746466314
rs746466314
RPS6KA4
1 1.000 0.080 11 64361697 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs762093504
rs762093504
MYLK4
1 1.000 0.080 6 2692787 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0