Auditory Neuropathy
Neurological
81 variants
17 genes
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Associated Genes (17)
MT-RNR1
OTOF
AIFM1
NOTCH3
TWNK
CDH2
NEFL
WFS1
KIF5A
OPA1
SLC52A3
TMEM43
TP63
MYO7A
TRPV4
CACNA1A
MFN2
Associated Variants (81)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS267606618
MT-RNR1
—
—
exploratory
RS898393464
OTOF
—
—
strong
RS1207567940
OTOF
—
—
strong
RS2523110174
AIFM1
—
—
strong
RS2285981
NOTCH3
—
—
strong
RS757583061
TWNK
—
—
strong
RS777374626
CDH2
—
—
strong
RS2486886357
NEFL
—
—
strong
RS2523126527
AIFM1
—
—
strong
RS779969253
OTOF
—
—
strong
RS775303221
WFS1
—
—
strong
RS2523110237
AIFM1
—
—
strong
RS2540511791
KIF5A
—
—
strong
RS1665364799
OTOF
—
—
strong
RS2475189674
OPA1
—
—
strong
RS1423274041
OTOF
—
—
strong
RS762660468
OTOF
—
—
strong
RS2465490325
OTOF
—
—
strong
RS199804573
OTOF
—
—
strong
RS2474872099
OPA1
—
—
strong
RS748545363
OTOF
—
—
strong
RS2465523611
OTOF
—
—
strong
RS2465519029
OTOF
—
—
strong
RS1665242283
OTOF
—
—
strong
RS2465492372
OTOF
—
—
strong
RS2514849190
SLC52A3
—
—
strong
RS369062548
WFS1
—
—
strong
RS151010429
TMEM43
—
—
strong
RS730880225
TMEM43
—
—
strong
RS139842014
TMEM43
—
—
strong
RS144334386
TMEM43
—
—
strong
RS367910936
TMEM43
—
—
strong
RS754536393
TMEM43
—
—
strong
RS886043340
OPA1
—
—
strong
RS773224617
TMEM43
—
—
strong
RS746639451
TMEM43
—
—
strong
RS2474589841
TP63
—
—
strong
RS2496745583
MYO7A
—
—
strong
RS2497078982
MYO7A
—
—
strong
RS2465272346
OTOF
—
—
strong
RS2465498743
OTOF
—
—
strong
RS1320406513
OTOF
—
—
strong
RS1392028993
TRPV4
—
—
strong
RS2513710454
CACNA1A
—
—
strong
RS2523037228
MFN2
—
—
strong
RS2465473118
OTOF
—
—
strong
RS1665126718
OTOF
—
—
strong
RS2465585150
OTOF
—
—
strong
RS756073260
TWNK
—
—
strong
RS2465540556
OTOF
—
—
strong
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