Source: CURATED

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: rs74315514
rs74315514
POLR2F ; SOX10
0.925 0.280 22 37977999 stop gained C/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs74315520
rs74315520
POLR2F ; SOX10
0.925 0.280 22 37973767 stop gained G/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs74315515
rs74315515
POLR2F ; SOX10
0.925 0.240 22 37983381 missense variant C/G;T snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 1.000 3 1999 2011
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C0021364
Disease: Male infertility
Male infertility 		0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C0025160
Disease: Megacolon
Megacolon 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0025160
Disease: Megacolon
Megacolon 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0003126
Disease: Anosmia
Anosmia 		0.700 0
dbSNP: rs267607081
rs267607081
POLR2F ; SOX10
1.000 0.120 22 37978043 missense variant T/G snv
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 1.000 4 2000 2011
dbSNP: rs397515368
rs397515368
POLR2F ; SOX10
1.000 0.120 22 37973485 stop lost CCCTTTAGGGCC/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 0
dbSNP: rs397515371
rs397515371
POLR2F ; SOX10
1.000 0.120 22 37974099 frameshift variant C/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 0
dbSNP: rs397515372
rs397515372
POLR2F ; SOX10
1.000 0.120 22 37973981 frameshift variant C/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 0
dbSNP: rs74315516
rs74315516
POLR2F ; SOX10
1.000 0.120 22 37973957 stop gained G/C;T snv
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 0
dbSNP: rs74315518
rs74315518
POLR2F ; SOX10
1.000 0.120 22 37974144 stop gained G/A;T snv 4.1E-06
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.700 0