MTAP, methylthioadenosine phosphorylase, 4507

N. diseases: 167; N. variants: 19
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: rs7023329
rs7023329 		0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7023329
rs7023329 		0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs185224597
rs185224597 		9 21860064 non coding transcript exon variant C/T snv 3.2E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs7023954
rs7023954 		0.925 0.040 9 21816759 missense variant G/A snv 0.40 0.42
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs201131773
rs201131773 		1.000 0.040 9 21805207 intron variant -/AC delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4364717
rs4364717 		9 21801531 upstream gene variant A/G snv 0.55
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs7023329
rs7023329 		0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs885518
rs885518 		1.000 0.040 9 21830158 intron variant A/G snv 0.17
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11532907
rs11532907 		0.882 0.080 9 21844773 intron variant A/G;T snv
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11532907
rs11532907 		0.882 0.080 9 21844773 intron variant A/G;T snv
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11532907
rs11532907 		0.882 0.080 9 21844773 intron variant A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs869329
rs869329 		0.851 0.080 9 21804694 intron variant A/G;T snv
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs869329
rs869329 		0.851 0.080 9 21804694 intron variant A/G;T snv
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs869329
rs869329 		0.851 0.080 9 21804694 intron variant A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs67134687
rs67134687 		1.000 9 21845309 intron variant A/G snv 9.2E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs869329
rs869329 		0.851 0.080 9 21804694 intron variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs869330
rs869330 		0.925 0.080 9 21804618 intron variant A/G snv 0.62
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs869330
rs869330 		0.925 0.080 9 21804618 intron variant A/G snv 0.62
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019