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: rs10842262
rs10842262
SOX5
0.851 0.040 12 24031610 intron variant G/C snv 0.43
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.700 1.000 1 2011 2011
dbSNP: rs12097821
rs12097821 		0.882 0.040 1 106793679 regulatory region variant G/A;T snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.700 1.000 1 2011 2011
dbSNP: rs2477686
rs2477686
PLCH2
0.807 0.040 1 2461209 intron variant G/C snv 0.64
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.700 1.000 1 2011 2011
dbSNP: rs6080550
rs6080550
LOC100289473
0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.700 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.050 1.000 5 2007 2016
dbSNP: rs12870438
rs12870438
EPSTI1
0.925 0.040 13 42906069 intron variant G/A snv 0.27
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 1.000 2 2015 2018
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 1.000 2 2013 2018
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 1.000 2 2010 2012
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 0.500 2 2007 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 0.500 2 2012 2013
dbSNP: rs7174015
rs7174015
USP8
0.925 0.040 15 50424871 intron variant G/A;T snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.020 1.000 2 2015 2018
dbSNP: rs10129954
rs10129954
DPF3
1.000 0.040 14 72683993 intron variant C/T snv 0.49
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2018 2018
dbSNP: rs10269148
rs10269148
STRA8
0.925 0.040 7 135230056 upstream gene variant C/A;G snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2013 2013
dbSNP: rs1059060
rs1059060
PMS2
0.925 0.040 7 5977709 missense variant T/A;C snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2012 2012
dbSNP: rs11204546
rs11204546
OR2W3
0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2014 2014
dbSNP: rs11531577
rs11531577
STAG3
1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2016 2016
dbSNP: rs11677854
rs11677854
GTF2A1L ; STON1-GTF2A1L
1.000 0.040 2 48664148 intron variant C/T snv 0.17
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2015 2015
dbSNP: rs1203334353
rs1203334353
DNMT3B
1.000 0.040 20 32795683 missense variant G/A snv 4.0E-06
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2020 2020
dbSNP: rs121918346
rs121918346
DAZL
0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 < 0.001 1 2005 2005
dbSNP: rs12348
rs12348
TUSC1
0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 < 0.001 1 2018 2018
dbSNP: rs1248142939
rs1248142939
PMS2
0.925 0.040 7 5992006 missense variant G/A snv
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2008 2008
dbSNP: rs1335054067
rs1335054067
NR0B1
1.000 0.040 X 30308211 missense variant C/A snv 1.1E-05
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2015 2015