Source: BEFREE ×
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: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.740 1.000 4 2006 2012
dbSNP: rs587776650
rs587776650
NBN
1 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.710 1.000 1 1998 2016
dbSNP: rs1225178489
rs1225178489
NBN
1 1.000 0.040 8 89970428 missense variant A/C;G snv 4.0E-06 0.020 0.500 2 2003 2007
dbSNP: rs776037868
rs776037868
NLRP2
1 1.000 0.040 19 54982866 missense variant G/T snv 7.2E-05 0.020 0.500 2 2003 2007
dbSNP: rs779179826
rs779179826
NLRP2
1 1.000 0.040 19 54982593 missense variant G/T snv 4.0E-06 0.020 0.500 2 2003 2007
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1061302
rs1061302
NBN
5 0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 0.010 1.000 1 2018 2018
dbSNP: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs16945628
rs16945628
BRIP1
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2735343
rs2735343
PTEN
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs552453137
rs552453137
XPC
2 0.925 0.160 3 14165512 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs7220719
rs7220719
BRIP1
3 0.882 0.120 17 61736921 intron variant A/G snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886037979
rs886037979
BRCA1
1 0.925 0.040 17 43094747 stop gained G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs913202196
rs913202196
TERF2
1 1.000 0.040 16 69368452 missense variant C/A;T snv 4.0E-06 0.010 < 0.001 1 2003 2003