INCENP, inner centromere protein, 3619

N. diseases: 24; N. variants: 4
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: rs2277283
rs2277283
1.000 0.080 11 62140968 missense variant T/A;C snv 0.24 0.25
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs61893682
rs61893682
1.000 0.080 11 62150080 missense variant G/C snv 2.8E-03 2.5E-03
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1675126
rs1675126
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1675126
rs1675126
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1675126
rs1675126
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7937840
rs7937840
0.807 0.200 11 62126500 intron variant C/T snv 0.20
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016