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: rs147187700
rs147187700
ATM ; C11orf65
3 0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs169068
rs169068
SSTR5 ; SSTR5-AS1
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2012 2012
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2012 2012
dbSNP: rs4759313
rs4759313
HOTAIR
4 0.851 0.120 12 53965290 intron variant T/A snv 0.51 0.010 1.000 1 2019 2019