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: rs10757257
rs10757257 		0.882 0.080 9 21806565 intron variant G/A snv 0.34
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
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: rs7023954
rs7023954 		0.925 0.040 9 21816759 missense variant G/A snv 0.40 0.42
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
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: rs7027989
rs7027989 		0.925 0.120 9 21817755 intron variant A/G;T snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs7027989
rs7027989 		0.925 0.120 9 21817755 intron variant A/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
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
dbSNP: rs10811625
rs10811625 		1.000 0.040 9 21826841 intron variant G/A;T snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs10965144
rs10965144 		1.000 0.040 9 21808914 5 prime UTR variant C/T snv 0.36
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
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: rs3900787
rs3900787 		1.000 0.040 9 21828111 intron variant A/C;T snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs3922992
rs3922992 		1.000 0.040 9 21827407 intron variant A/G snv 0.34
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs3927737
rs3927737 		1.000 0.040 9 21827993 intron variant G/A;C snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
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: 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