MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
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: rs755948940
rs755948940 		1.000 16 88655221 missense variant T/C snv 5.4E-06 2.8E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.800 1.000 2 2008 2015
dbSNP: rs761991070
rs761991070 		1.000 16 88655350 missense variant A/G snv 4.8E-05 2.1E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.800 1.000 2 2008 2015
dbSNP: rs200033380
rs200033380 		1.000 16 88657537 missense variant G/A;C snv 4.0E-05; 4.0E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 1.000 2 2008 2015
dbSNP: rs546127665
rs546127665 		1.000 16 88652602 missense variant C/G;T snv 6.2E-06; 6.2E-06
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 1.000 2 2008 2015
dbSNP: rs776358937
rs776358937 		1.000 16 88657456 missense variant G/A snv 2.9E-05 4.2E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 1.000 2 2008 2015
dbSNP: rs776684503
rs776684503 		1.000 16 88655414 missense variant G/A snv
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 1.000 2 2008 2015
dbSNP: rs3794625
rs3794625 		16 88663165 upstream gene variant C/T snv 0.29
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs144010349
rs144010349 		1.000 16 88656226 missense variant C/T snv 2.1E-05 2.8E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 0
dbSNP: rs770939767
rs770939767 		1.000 16 88655413 missense variant C/A;T snv 1.1E-05; 2.2E-05
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 0
dbSNP: rs16966671
rs16966671 		1.000 0.040 16 88651867 upstream gene variant C/G snv 0.43
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9932581
rs9932581 		16 88651945 3 prime UTR variant C/T snv 0.39
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015