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: rs9833888
rs9833888
FILIP1L ; CMSS1
1.000 0.080 3 100004736 intron variant G/T snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs1190983
rs1190983
EVL
0.925 0.080 14 100031649 intron variant T/C snv 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs9837602
rs9837602
FILIP1L ; CMSS1
1.000 0.080 3 100105841 intron variant G/A snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs181337095
rs181337095 		1.000 0.080 15 100366889 intergenic variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs2273802
rs2273802
WARS1 ; WDR25
0.925 0.080 14 100376562 5 prime UTR variant G/A snv 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs612683
rs612683
CDC14A ; LOC105379827
1.000 0.080 1 100414772 intron variant A/T snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs11292
rs11292
HIF1AN
0.925 0.080 10 100553850 3 prime UTR variant A/G snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs17094222
rs17094222 		0.925 0.080 10 100635683 intergenic variant T/C snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970
NPAS2
0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs747097215
rs747097215
SLC12A9
1.000 0.080 7 100856990 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 1996 1996
dbSNP: rs17024926
rs17024926
NPAS2
0.851 0.120 2 100889540 intron variant T/C snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs895520
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
0.708 0.320 2 100964784 intron variant C/T snv 0.92
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2008 2012
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 0.600 5 2012 2018
dbSNP: rs11541353
rs11541353
NPAS2 ; NPAS2-AS1
0.851 0.120 2 100977729 missense variant C/T snv 0.14 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs3739008
rs3739008
NPAS2
0.925 0.080 2 100996106 3 prime UTR variant C/T snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs500760
rs500760
PGR
0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs10895054
rs10895054
PGR
0.925 0.080 11 101039579 intron variant A/T snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs575018
rs575018 		1.000 0.080 5 101043689 intergenic variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs1042839
rs1042839
PGR
0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs56103835
rs56103835
MIR323B
0.925 0.080 14 101056219 non coding transcript exon variant T/A;C snv 4.0E-06; 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1042838
rs1042838
PGR
0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 0.667 6 2002 2020
dbSNP: rs590688
rs590688
PGR
0.925 0.080 11 101105243 intron variant C/G snv 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2013 2020