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: rs1057518656
rs1057518656
POLR2F ; SOX10
1.000 0.040 22 37983469 missense variant G/C snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 0
dbSNP: rs1064796049
rs1064796049
POLR2F ; SOX10
1.000 0.080 22 37983644 frameshift variant C/- delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1373797370
rs1373797370
POLR2F ; SOX10
1.000 0.080 22 37978112 missense variant C/G;T snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555937390
rs1555937390
POLR2F ; SOX10
1.000 0.080 22 37973789 frameshift variant G/- del
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555937395
rs1555937395
POLR2F ; SOX10
1.000 0.080 22 37973800 frameshift variant -/C delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555937400
rs1555937400
POLR2F ; SOX10
1.000 0.080 22 37973806 stop gained G/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555937463
rs1555937463
POLR2F ; SOX10
1.000 0.080 22 37973961 frameshift variant -/T delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939403
rs1555939403
POLR2F ; SOX10
1.000 0.080 22 37983359 stop gained C/G;T snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939421
rs1555939421
POLR2F ; SOX10
1.000 0.080 22 37983404 frameshift variant -/G delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939426
rs1555939426
POLR2F ; SOX10
1.000 0.080 22 37983421 missense variant G/C snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939459
rs1555939459
POLR2F ; SOX10
1.000 0.080 22 37983484 stop gained T/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939460
rs1555939460
POLR2F ; SOX10
1.000 0.080 22 37983485 frameshift variant GCT/CC delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939476
rs1555939476
POLR2F ; SOX10
1.000 0.080 22 37983510 frameshift variant -/GGGCATGGGCACCAGCGTCC delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
dbSNP: rs1555939523
rs1555939523
POLR2F ; SOX10
1.000 0.080 22 37983658 stop gained G/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.700 0
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: 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