Source: CLINVAR

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: rs104893744
rs104893744
MITF
1.000 0.040 3 69959310 missense variant T/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.800 1.000 0 1995 2017
dbSNP: rs104893745
rs104893745
MITF
1.000 0.280 3 69951882 missense variant C/G snv
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.800 1.000 0 2000 2000
dbSNP: rs104893747
rs104893747
MITF
1.000 0.040 3 69964880 missense variant T/C snv 2.4E-05 3.5E-05
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.800 1.000 0 1995 2017
dbSNP: rs1057519325
rs1057519325
MITF
0.925 0.040 3 69951870 missense variant G/C snv
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.800 0
dbSNP: rs1057519326
rs1057519326
MITF
0.925 0.040 3 69956469 missense variant A/G snv
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.800 0
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: rs1553704814
rs1553704814
MITF
0.882 0.280 3 69956461 inframe deletion AGA/- delins
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.700 1.000 12 1995 2018
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: 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: 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: 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: 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: 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: 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: 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: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 1.000 1 2018 2018
dbSNP: rs1553702006
rs1553702006
MITF
1.000 0.040 3 69939164 stop gained C/T snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 1.000 1 2018 2018
dbSNP: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C0221262
Disease: Poliosis
Poliosis 		0.700 0
dbSNP: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		0.700 0
dbSNP: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.700 0
dbSNP: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0