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: 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
dbSNP: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs1057518765
rs1057518765
MITF
1.000 0.040 3 69949082 missense variant A/G snv 4.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.700 0
dbSNP: rs1057519325
rs1057519325
MITF
0.925 0.040 3 69951870 missense variant G/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057519326
rs1057519326
MITF
0.925 0.040 3 69956469 missense variant A/G snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057519327
rs1057519327
MITF
0.925 0.040 3 69956454 splice acceptor variant G/A snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0