Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.800 1.000 11 2011 2019
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 22 1987 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 1.000 5 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.700 1.000 5 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1837463
Disease: Narrow face
Narrow face 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.700 1.000 4 2011 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.100 1.000 13 2011 2019
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.050 0.800 5 2011 2019
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.050 0.800 5 2011 2019
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 1.000 4 2013 2017
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.030 1.000 3 2014 2017
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2011 2014
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.030 1.000 3 2014 2017
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0027960
Disease: Nevus
Nevus 		0.030 1.000 3 2014 2017
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.010 1.000 1 2014 2014
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor 		0.010 1.000 1 2016 2016
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 2016 2016