OTOF (otoferlin)

Gene

• Entrez ID: 9381
• Gene name: Otoferlin
• Gene symbol: OTOF
• Synonyms: AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937591	G>C	Pathogenic	Coding sequence variant, missense variant
rs80356576	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, missense variant
rs80356584	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80356585	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs80356586	A>G	Pathogenic, likely-pathogenic, association	Coding sequence variant, genic upstream transcript variant, missense variant
rs80356587	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80356588	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80356589	C>A	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs80356590	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant
rs80356591	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs80356593	G>A	Pathogenic, association	Coding sequence variant, stop gained
rs80356594	C>T	Pathogenic	Splice donor variant
rs80356595	G>A	Pathogenic	Coding sequence variant, stop gained
rs80356596	A>G	Pathogenic	Coding sequence variant, missense variant
rs80356597	T>G	Pathogenic	Splice acceptor variant
rs80356598	C>T	Pathogenic	Coding sequence variant, stop gained
rs80356599	A>C	Pathogenic	Splice donor variant
rs80356600	A>T	Pathogenic	Coding sequence variant, stop gained
rs80356602	C>G	Pathogenic	Splice donor variant
rs80356604	C>T	Pathogenic	Splice donor variant
rs80356605	C>G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs80356606	G>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs111033330	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs111033341	A>C	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs111033342	C>A,T	Likely-pathogenic	Splice acceptor variant
rs111033349	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033370	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033373	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs111033383	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs111033384	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs111033405	A>G	Likely-pathogenic, association	Coding sequence variant, missense variant
rs111033446	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033447	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs111033455	T>C	Likely-pathogenic	Splice acceptor variant
rs121908598	G>C	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs139525746	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs139779680	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic upstream transcript variant
rs141235641	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, synonymous variant
rs143141993	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant, missense variant, coding sequence variant
rs143939430	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs144800506	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147321712	G>A,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs149766574	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant
rs150452778	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs181805996	A>T	Pathogenic, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs186810296	C>A,T	Uncertain-significance, pathogenic, benign	Splice donor variant
rs199766465	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199848801	G>A	Pathogenic	Coding sequence variant, stop gained
rs200147906	C>G,T	Pathogenic	Splice donor variant
rs201326023	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs201329629	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs201613240	T>G	Likely-pathogenic	Splice acceptor variant
rs202086317	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, genic upstream transcript variant
rs368148603	TCTTCT>-,TCT,TCTTCTTCT,TCTTCTTCTTCT	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs368790049	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs370132645	A>C	Pathogenic	Splice donor variant
rs370609551	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs372713647	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs397515435	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515579	CC>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515580	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515581	G>-,GG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515582	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs397515583	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515584	C>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs397515585	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs397515586	A>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515587	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515588	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515589	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515590	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs397515591	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs397515592	G>T	Pathogenic	Coding sequence variant, stop gained
rs397515593	G>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs397515594	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515595	->AGCT	Pathogenic	Coding sequence variant, frameshift variant
rs397515596	CGGCAAAGAGGCTGCGGGC>TGCGCTCGGAG	Pathogenic	Coding sequence variant, frameshift variant
rs397515597	CT>-	Association, pathogenic	Coding sequence variant, frameshift variant
rs397515598	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs397515599	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515600	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397515601	C>A	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397515602	C>A	Pathogenic	Coding sequence variant, stop gained
rs397515604	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397515605	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515606	A>C	Pathogenic	Coding sequence variant, missense variant
rs397515607	TCC>-	Association, likely-pathogenic	Coding sequence variant, inframe deletion
rs397515608	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515609	->G	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs397515610	G>A,C,T	Pathogenic	Stop gained, genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs397515611	C>A,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs483353049	C>A,G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs483353050	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs530821443	G>A	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs727503352	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504639	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504936	G>A	Pathogenic	Stop gained, coding sequence variant
rs727505359	C>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs753580324	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs758918226	C>T	Pathogenic	Splice donor variant
rs781688103	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255246	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518840	T>C	Likely-pathogenic	Splice acceptor variant
rs1060499805	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064795233	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs1064795376	ACTGAAGTCTTGC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1207102900	A>G	Pathogenic	Stop lost, intron variant, terminator codon variant
rs1274464930	C>G,T	Pathogenic	Splice donor variant
rs1403112959	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1443739332	TTAGAAATCTTGCGCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553353527	CCGAGGCCGCTGGGGCCGGG>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1553356452	C>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1558464965	C>A	Pathogenic	Coding sequence variant, missense variant
rs1558472243	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558480402	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1558482554	C>A	Pathogenic	Stop gained, coding sequence variant
rs1558485249	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558488902	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558489384	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1558490542	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558492758	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1572399804	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT718121	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718120	hsa-miR-4267	HITS-CLIP	19536157
MIRT718119	hsa-miR-1184	HITS-CLIP	19536157
MIRT718118	hsa-miR-4640-5p	HITS-CLIP	19536157
MIRT718117	hsa-miR-4726-5p	HITS-CLIP	19536157
MIRT718116	hsa-miR-7977	HITS-CLIP	19536157
MIRT718121	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718120	hsa-miR-4267	HITS-CLIP	19536157
MIRT718119	hsa-miR-1184	HITS-CLIP	19536157
MIRT718118	hsa-miR-4640-5p	HITS-CLIP	19536157
MIRT718117	hsa-miR-4726-5p	HITS-CLIP	19536157
MIRT718116	hsa-miR-7977	HITS-CLIP	19536157
MIRT1207201	hsa-miR-1207-5p	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207203	hsa-miR-1254	CLIP-seq
MIRT1207204	hsa-miR-1908	CLIP-seq
MIRT1207205	hsa-miR-1909	CLIP-seq
MIRT1207206	hsa-miR-2861	CLIP-seq
MIRT1207207	hsa-miR-3064-5p	CLIP-seq
MIRT1207208	hsa-miR-3116	CLIP-seq
MIRT1207209	hsa-miR-3150a-3p	CLIP-seq
MIRT1207210	hsa-miR-3175	CLIP-seq
MIRT1207211	hsa-miR-3197	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207214	hsa-miR-3612	CLIP-seq
MIRT1207215	hsa-miR-3652	CLIP-seq
MIRT1207216	hsa-miR-3689a-3p	CLIP-seq
MIRT1207217	hsa-miR-3689c	CLIP-seq
MIRT1207218	hsa-miR-4254	CLIP-seq
MIRT1207219	hsa-miR-4300	CLIP-seq
MIRT1207220	hsa-miR-4430	CLIP-seq
MIRT1207221	hsa-miR-4443	CLIP-seq
MIRT1207222	hsa-miR-4446-3p	CLIP-seq
MIRT1207223	hsa-miR-4492	CLIP-seq
MIRT1207224	hsa-miR-4498	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207227	hsa-miR-4505	CLIP-seq
MIRT1207228	hsa-miR-4651	CLIP-seq
MIRT1207229	hsa-miR-4667-5p	CLIP-seq
MIRT1207230	hsa-miR-4700-5p	CLIP-seq
MIRT1207231	hsa-miR-4728-5p	CLIP-seq
MIRT1207232	hsa-miR-4731-5p	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207234	hsa-miR-4763-3p	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207236	hsa-miR-608	CLIP-seq
MIRT1207237	hsa-miR-650	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207239	hsa-miR-663	CLIP-seq
MIRT1207240	hsa-miR-762	CLIP-seq
MIRT1207241	hsa-miR-920	CLIP-seq
MIRT1207242	hsa-miR-939	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207209	hsa-miR-3150a-3p	CLIP-seq
MIRT1207210	hsa-miR-3175	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207242	hsa-miR-939	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0003674	Function	Molecular_function	ND
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS	10192385
GO:0007009	Process	Plasma membrane organization	IBA	21873635
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	ISS
GO:0016082	Process	Synaptic vesicle priming	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0035612	Function	AP-2 adaptor complex binding	IBA	21873635
GO:0042995	Component	Cell projection	IEA
GO:0048787	Component	Presynaptic active zone membrane	IBA	21873635
GO:0061025	Process	Membrane fusion	TAS	10192385

Other IDs

• MIM: 603681
• HGNC: 8515
• e!Ensembl: ENSG00000115155

Protein

• UniProt ID: Q9HC10
• Protein name: Otoferlin (Fer-1-like protein 2)
• Protein function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	5 → 100	C2 domain	Domain
  PF00168	C2	254 → 357	C2 domain	Domain
  PF08151	FerI	360 → 410	FerI (NUC094) domain	Domain
  PF00168	C2	417 → 530	C2 domain	Domain
  PF08150	FerB	842 → 917	FerB (NUC096) domain	Domain
  PF00168	C2	960 → 1059	C2 domain	Domain
  PF00168	C2	1492 → 1596	C2 domain	Domain
  PF00168	C2	1732 → 1868	C2 domain	Domain
  PF16165	Ferlin_C	1894 → 1994	Ferlin C-terminus	Family

• Sequence:

  MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNE
  MLEIQVFNYSKVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQA
  TDGTVGSWDDGDFLGDESLQEEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMK
  LGKNRSHKEEPQRPDEPAVLEMEDLDHLAIRLGDGLDPDSVSLASVTALTTNVSNKRSKP
  DIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVGDDKKYTSMKESTNCPYYNEY
  FVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEHQFHHKWAILS
  DPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFY
  VKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNE
  QVVFTDLFPPLCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMY
  GSTRNYTLLDEHQDLNEGLGEGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPIS
  ESCAGKMEEFFLFGAFLEASMIDRRNGDKPITFEVTIGNYGNEVDGLSRPQRPRPRKEPG
  DEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNYFHLPYLERKPCIYIKSWWPD
  QRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCGCCRFLSLADK
  DQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLAD
  EPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFG
  SAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAF
  QLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYG
  EAHELRDDPPIIVIEIYDQDSMGKADFMGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYR
  GNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFW
  GLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHP
  PLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSS
  SHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEE
  PDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKE
  EKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDE
  DGSTEEERIVGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVR
  ATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVA
  VYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLC
  KDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCR
  LVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWN
  TDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYL
  AAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKT
  AKQCTMEMATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAE
  KNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLLKLLLLLLLLLLLA
  LFLYSVPGYLVKKILGA

• Sequence length: 1997

Pathways

Reactome:

Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Deafness	Prelingual Deafness, Deafness, Acquired, Deafness, Autosomal Recessive 9, DEAFNESS, AUTOSOMAL RECESSIVE (disorder), Deaf Mutism	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	17967520, 24814232, 19417007, 18381613, 10192385, 16283880, 24135434, 27018795, 28766844, 20224275, 9657592, 12127154, 24746455, 14635104, 11483641, 16371502, 20230791, 21935370, 17055430, 20504331, 26437881, 16097006, 21557232, 12114484, 27082237
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	27082237

Unknown
Disease name	Disease term	dbSNP ID	References
Non-syndromic sensorineural deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB
Sensorineural hearing loss	Sensorineural hearing loss, bilateral		17055430, 11483641, 12127154, 19417007, 24135434, 10192385