ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030739
rs5030739
0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.090 0.889 9 2001 2010
dbSNP: rs4792311
rs4792311
0.776 0.160 17 13011692 missense variant G/A;C snv 0.27
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.080 1.000 8 2002 2010
dbSNP: rs119484086
rs119484086
0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2005 2019
dbSNP: rs1353855643
rs1353855643
0.925 0.080 17 13000197 frameshift variant T/- del 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2005 2008
dbSNP: rs1446725892
rs1446725892
0.925 0.080 17 13000197 missense variant T/C;G snv 4.0E-06; 8.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2005 2008
dbSNP: rs531523727
rs531523727
0.925 0.080 17 12998442 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2005 2008
dbSNP: rs11545302
rs11545302
0.925 0.080 17 12996646 synonymous variant T/A;C;G snv 2.4E-05; 0.27; 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1374051619
rs1374051619
0.827 0.080 17 12995026 missense variant C/G snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs757284769
rs757284769
0.925 0.080 17 12996561 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2002 2002