Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12998
rs12998
KISS1
0.882 0.080 1 204192819 missense variant C/T snv 3.3E-02 2.9E-02
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2015 2015
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
0.716 0.360 8 127343372 intron variant A/G snv 0.43
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2009 2009
dbSNP: rs1800067
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2009 2009
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2017 2017
dbSNP: rs2132570
rs2132570
IGFBP3
1.000 0.040 7 45922864 upstream gene variant T/A;G snv
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2010 2010
dbSNP: rs3110697
rs3110697
IGFBP3
0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2010 2010
dbSNP: rs3803662
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2017 2017
dbSNP: rs4973768
rs4973768
SLC4A7
0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2017 2017
dbSNP: rs5780218
rs5780218
KISS1
0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2015 2015
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2008 2008
dbSNP: rs743572
rs743572
CYP17A1
0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		0.010 1.000 1 2008 2008