KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
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: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.720 1.000 5 2009 2019
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.710 0.667 3 2009 2016
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 3 2009 2013
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.710 0.500 2 2010 2016
dbSNP: rs3782176
rs3782176 		1.000 0.120 12 88545356 intron variant A/G snv 0.80
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0028960
Disease: Oligospermia
Oligospermia 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C1864873
Disease: Testicular Microlithiasis
Testicular Microlithiasis 		Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs995030
rs995030 		0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs730882156
rs730882156 		1.000 0.040 12 88545783 missense variant A/G snv
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs4590952
rs4590952 		0.925 0.080 12 88559882 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4590952
rs4590952 		0.925 0.080 12 88559882 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs864309654
rs864309654 		1.000 12 88518858 inframe deletion AAT/- del
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.700 0
dbSNP: rs3782181
rs3782181 		0.882 0.120 12 88559784 intron variant C/A snv 0.65
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs3782181
rs3782181 		0.882 0.120 12 88559784 intron variant C/A snv 0.65
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs10506956
rs10506956 		1.000 0.120 12 88538258 intron variant C/A snv 8.9E-02
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3782181
rs3782181 		0.882 0.120 12 88559784 intron variant C/A snv 0.65
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3782181
rs3782181 		0.882 0.120 12 88559784 intron variant C/A snv 0.65
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1352947
rs1352947 		1.000 0.120 12 88566950 intron variant C/G;T snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs1472899
rs1472899 		1.000 0.120 12 88557708 intron variant C/T snv 0.65
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs3782179
rs3782179 		1.000 0.120 12 88559549 intron variant C/T snv 0.65
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs11104911
rs11104911 		1.000 0.120 12 88510987 intron variant C/T snv 8.5E-02
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1907703
rs1907703 		12 88561865 intron variant C/T snv 0.65
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs4474514
rs4474514 		0.827 0.240 12 88560182 intron variant G/A snv 0.65
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 2009 2011