Source: CLINVAR ×
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: rs1057519366
rs1057519366
FANCC
1 1.000 0.080 9 95150014 frameshift variant G/-;GG delins 0.700 1.000 1 2016 2016
dbSNP: rs1057519367
rs1057519367
REV3L ; MFSD4B
1 1.000 0.080 6 111405476 missense variant T/A snv 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs56335340
rs56335340
BRCA2
1 1.000 0.080 13 32357883 missense variant C/T snv 4.4E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs763151358
rs763151358
FANCE
1 1.000 0.080 6 35456096 missense variant C/T snv 6.0E-05 7.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs119490107
rs119490107
RAD54B ; FSBP
1 0.925 0.080 8 94399540 missense variant C/A snv 2.8E-05 0.700 0
dbSNP: rs121434507
rs121434507
PTPRJ
1 0.925 0.080 11 48123636 missense variant C/T snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs121434623
rs121434623
PTPN12
1 0.925 0.080 7 77571160 missense variant A/G snv 0.700 0
dbSNP: rs121908500
rs121908500
DLC1
1 1.000 0.080 8 13099462 missense variant T/C snv 0.700 0
dbSNP: rs121908567
rs121908567
AXIN2
1 1.000 0.080 17 65536345 stop gained C/A;T snv 0.700 0
dbSNP: rs121909242
rs121909242
PPARG
1 0.925 0.080 3 12416825 missense variant A/C snv 0.700 0
dbSNP: rs121909243
rs121909243
PPARG
1 1.000 0.080 3 12416923 stop gained A/T snv 0.700 0
dbSNP: rs121913111
rs121913111
FGFR3
1 1.000 0.080 4 1803725 missense variant G/A snv 0.800 0
dbSNP: rs121917731
rs121917731
MCC
1 1.000 0.080 5 113043623 missense variant G/A snv 0.800 0
dbSNP: rs121917732
rs121917732
MCC
1 1.000 0.080 5 113064110 missense variant C/T snv 1.2E-05 0.800 0
dbSNP: rs137852930
rs137852930
FLCN
1 1.000 0.080 17 17227902 missense variant G/C snv 0.700 0
dbSNP: rs137853038
rs137853038
EP300
1 1.000 0.080 22 41137768 stop gained C/T snv 0.700 0
dbSNP: rs137853148
rs137853148
PDGFRL
1 1.000 0.080 8 17589479 missense variant C/T snv 0.800 1.000 0 1995 2015
dbSNP: rs1553149467
rs1553149467
ARID1A
1 1.000 0.080 1 26731454 stop gained C/G snv 0.700 0
dbSNP: rs1553488015
rs1553488015
NFE2L2
2 0.925 0.080 2 177234226 missense variant C/T snv 0.700 0
dbSNP: rs1567755946
rs1567755946
AXIN2
2 0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 0.700 0
dbSNP: rs180177032
rs180177032
BRAF
1 1.000 0.080 7 140781623 missense variant C/A snv 0.800 1.000 0 2006 2015
dbSNP: rs180177033
rs180177033
BRAF
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 0 2006 2015
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
1 1.000 0.080 MT 8009 missense variant G/A snv 0.800 0
dbSNP: rs207459996
rs207459996
CYTB ; ND6
1 1.000 0.080 MT 15572 missense variant T/C snv 0.800 0
dbSNP: rs267606884
rs267606884
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7275 missense variant T/C snv 0.800 1.000 0 2006 2009