rs149617956, MITF

N. diseases: 32
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neural crest tumor
CUI: C2931189
Disease: Neural crest tumor
1 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
2 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.800 1.000 11 2011 2019
Tietz syndrome
CUI: C0391816
Disease: Tietz syndrome
5 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 5 2011 2016
Mild microcephaly
CUI: C1836806
Disease: Mild microcephaly
5 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Narrow face
CUI: C1837463
Disease: Narrow face
6 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Speech Disorders
CUI: C0037822
Disease: Speech Disorders
7 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Kidney Neoplasm
CUI: C0022665
Disease: Kidney Neoplasm
11 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2014 2014
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
20 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.030 1.000 3 2014 2017
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
26 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 5 2011 2016
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.030 1.000 3 2014 2017
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2014 2014
Nevus
CUI: C0027960
Disease: Nevus
43 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.030 1.000 3 2014 2017
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
Constipation
CUI: C0009806
Disease: Constipation
57 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.050 0.800 5 2011 2019
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2015 2015
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1 2014 2014
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.050 0.800 5 2011 2019
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1 2014 2014