LRBA (LPS responsive beige-like anchor protein)

Gene

• Entrez ID: 987
• Gene name: LPS responsive beige-like anchor protein
• Gene symbol: LRBA
• Synonyms: BGL, CDC4L, CVID8, LAB300, LBA, uc.147
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in le

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17027133	T>C	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, missense variant, coding sequence variant
rs62346982	T>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79392371	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs114610541	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs116355217	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs138956153	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs140666848	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs142598024	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs143625481	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs145709687	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145812385	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs151286835	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199469662	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs199469663	A>C	Pathogenic	Coding sequence variant, missense variant
rs199469664	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs200295901	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs201059532	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs727503779	CTCT>-,CT	Pathogenic	Frameshift variant, coding sequence variant
rs727503780	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs745608560	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs762031957	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs779575307	G>A,C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs1004337827	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1171694504	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1181595292	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1192554889	G>C	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1206185362	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1264504989	->CATG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1484948342	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs1553956151	CAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553965868	AAGGAGAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553996145	A>C,G	Likely-pathogenic	Splice donor variant
rs1553998602	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554020278	->TGTCTTCGCTAGC	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs1560914625	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1560938296	TC>CA	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1561254290	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578971328	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1578999313	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1579059727	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1580875488	G>A	Pathogenic	Stop gained, coding sequence variant
rs1580974401	ATAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581303476	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581401865	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040425	hsa-miR-615-3p	CLASH	23622248
MIRT039203	hsa-miR-769-5p	CLASH	23622248
MIRT038890	hsa-miR-93-3p	CLASH	23622248
MIRT036310	hsa-miR-1229-3p	CLASH	23622248
MIRT1117230	hsa-miR-1206	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117232	hsa-miR-1322	CLIP-seq
MIRT1117233	hsa-miR-219-2-3p	CLIP-seq
MIRT1117234	hsa-miR-2355-5p	CLIP-seq
MIRT1117235	hsa-miR-2964a-3p	CLIP-seq
MIRT1117236	hsa-miR-33a	CLIP-seq
MIRT1117237	hsa-miR-33b	CLIP-seq
MIRT1117238	hsa-miR-3613-3p	CLIP-seq
MIRT1117239	hsa-miR-3647-3p	CLIP-seq
MIRT1117240	hsa-miR-3682-5p	CLIP-seq
MIRT1117241	hsa-miR-4286	CLIP-seq
MIRT1117242	hsa-miR-4652-3p	CLIP-seq
MIRT1117243	hsa-miR-4668-3p	CLIP-seq
MIRT1117244	hsa-miR-4680-3p	CLIP-seq
MIRT1117245	hsa-miR-4688	CLIP-seq
MIRT1117246	hsa-miR-4699-3p	CLIP-seq
MIRT1117247	hsa-miR-4793-5p	CLIP-seq
MIRT1117248	hsa-miR-486-3p	CLIP-seq
MIRT1117249	hsa-miR-767-3p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117251	hsa-miR-1267	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117234	hsa-miR-2355-5p	CLIP-seq
MIRT1117253	hsa-miR-3065-3p	CLIP-seq
MIRT1117254	hsa-miR-3120-3p	CLIP-seq
MIRT1117255	hsa-miR-3121-3p	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT1117258	hsa-miR-3185	CLIP-seq
MIRT1117259	hsa-miR-338-5p	CLIP-seq
MIRT1117239	hsa-miR-3647-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT1117261	hsa-miR-3976	CLIP-seq
MIRT1117241	hsa-miR-4286	CLIP-seq
MIRT1117262	hsa-miR-4427	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117243	hsa-miR-4668-3p	CLIP-seq
MIRT1117266	hsa-miR-4684-3p	CLIP-seq
MIRT1117267	hsa-miR-4696	CLIP-seq
MIRT1117268	hsa-miR-4709-3p	CLIP-seq
MIRT1117269	hsa-miR-539	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT1117271	hsa-miR-628-5p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117231	hsa-miR-1273d	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT2033113	hsa-miR-323b-3p	CLIP-seq
MIRT2033114	hsa-miR-337-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT2033115	hsa-miR-3685	CLIP-seq
MIRT2033116	hsa-miR-384	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT2263469	hsa-miR-1245b-5p	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117232	hsa-miR-1322	CLIP-seq
MIRT2263470	hsa-miR-198	CLIP-seq
MIRT2263471	hsa-miR-199a-3p	CLIP-seq
MIRT2263472	hsa-miR-199b-3p	CLIP-seq
MIRT2263473	hsa-miR-27a	CLIP-seq
MIRT2263474	hsa-miR-27b	CLIP-seq
MIRT1117253	hsa-miR-3065-3p	CLIP-seq
MIRT1117254	hsa-miR-3120-3p	CLIP-seq
MIRT2263475	hsa-miR-3123	CLIP-seq
MIRT2263476	hsa-miR-3129-5p	CLIP-seq
MIRT2263477	hsa-miR-3142	CLIP-seq
MIRT2263478	hsa-miR-3143	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT2263479	hsa-miR-3174	CLIP-seq
MIRT2263480	hsa-miR-3529	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT2263481	hsa-miR-3671	CLIP-seq
MIRT1117240	hsa-miR-3682-5p	CLIP-seq
MIRT2263482	hsa-miR-3692	CLIP-seq
MIRT2263483	hsa-miR-371-5p	CLIP-seq
MIRT2263484	hsa-miR-371b-5p	CLIP-seq
MIRT2263485	hsa-miR-379	CLIP-seq
MIRT2263486	hsa-miR-4269	CLIP-seq
MIRT2263487	hsa-miR-4289	CLIP-seq
MIRT1117262	hsa-miR-4427	CLIP-seq
MIRT2263488	hsa-miR-4438	CLIP-seq
MIRT2263489	hsa-miR-4451	CLIP-seq
MIRT2263490	hsa-miR-4470	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT2263491	hsa-miR-4536	CLIP-seq
MIRT2263492	hsa-miR-4645-5p	CLIP-seq
MIRT2263493	hsa-miR-4650-3p	CLIP-seq
MIRT2263494	hsa-miR-4650-5p	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT2263495	hsa-miR-4673	CLIP-seq
MIRT2263496	hsa-miR-4742-5p	CLIP-seq
MIRT1117247	hsa-miR-4793-5p	CLIP-seq
MIRT2263497	hsa-miR-5095	CLIP-seq
MIRT2263498	hsa-miR-5096	CLIP-seq
MIRT2263499	hsa-miR-513a-5p	CLIP-seq
MIRT2263500	hsa-miR-513c	CLIP-seq
MIRT2263501	hsa-miR-514b-5p	CLIP-seq
MIRT2263502	hsa-miR-543	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT2263503	hsa-miR-576-3p	CLIP-seq
MIRT1117249	hsa-miR-767-3p	CLIP-seq
MIRT2263504	hsa-miR-921	CLIP-seq
MIRT1117250	hsa-miR-1253	CLIP-seq
MIRT1117256	hsa-miR-3148	CLIP-seq
MIRT1117257	hsa-miR-3160-3p	CLIP-seq
MIRT1117260	hsa-miR-3659	CLIP-seq
MIRT1117263	hsa-miR-4496	CLIP-seq
MIRT1117265	hsa-miR-4658	CLIP-seq
MIRT1117270	hsa-miR-574-5p	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq
MIRT1117252	hsa-miR-1273e	CLIP-seq
MIRT1117264	hsa-miR-4635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	15064745

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005886	Component	Plasma membrane	IEA
GO:0008104	Process	Protein localization	IBA	21873635
GO:0008150	Process	Biological_process	ND
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA	21873635

Other IDs

• MIM: 606453
• HGNC: 1742
• e!Ensembl: ENSG00000198589

Protein

• UniProt ID: P50851
• Protein name: Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein)
• Protein function: Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A traffickin
• PDB: 1T77
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13385	Laminin_G_3	211 → 377		Domain
  PF15787	DUF4704	446 → 717	Domain of unknown function (DUF4704)	Family
  PF06469	DUF1088	1880 → 2058	Domain of Unknown Function (DUF1088)	Family
  PF14844	PH_BEACH	2084 → 2181	PH domain associated with Beige/BEACH	Domain
  PF02138	Beach	2213 → 2489	Beige/BEACH domain	Family

• Sequence:

  MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEV
  SNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDITCQAEVWSMFTAILKK
  SIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDK
  GRWPPHAGKLLSVLKHMPQKYGPDAFFNFPGKSAAAIALPPIAKWPYQNGFTFHTWLRMD
  PVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWY
  MVTIVHIYNRWKNSELRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQ
  MTAVYLFSEALNAAQIFAIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFT
  YNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLF
  AQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGFLVIGYSLEKSSKSHV
  SRAVLELCLAFSKYLSNLQNGMPLLKQLCDHVLLNPAIWIHTPAKVQLMLYTYLSTEFIG
  TVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEMLSLRAFLLM
  FIKQLVMKDSGVKEDELQAILNYLLTMHEDDNLMDVLQLLVALMSEHPNSMIPAFDQRNG
  LRVIYKLLASKSEGIRVQALKAMGYFLKHLAPKRKAEVMLGHGLFSLLAERLMLQTNLIT
  MTTYNVLFEILIEQIGTQVIHKQHPDPDSSVKIQNPQILKVIATLLRNSPQCPESMEVRR
  AFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDEQKITEMVYAIFRILLYH
  AVKYEWGGWRVWVDTLSITHSKVTFEIHKENLANIFREQQGKVDEEIGLCSSTSVQAASG
  IRRDINVSVGSQQPDTKDSPVCPHFTTNGNENSSIEKTSSLESASNIELQTTNTSYEEMK
  AEQENQELPDEGTLEETLTNETRNADDLEVSSDIIEAVAISSNSFITTGKDSMTVSEVTA
  SISSPSEEDASEMPEFLDKSIVEEEEDDDYVELKVEGSPTEEANLPTELQDNSLSPAASE
  AGEKLDMFGNDDKLIFQEGKPVTEKQTDTETQDSKDSGIQTMTASGSSAMSPETTVSQIA
  VESDLGQMLEEGKKATNLTRETKLINDCHGSVSEASSEQKIAKLDVSNVATDTERLELKA
  SPNVEAPQPHRHVLEISRQHEQPGQGIAPDAVNGQRRDSRSTVFRIPEFNWSQMHQRLLT
  DLLFSIETDIQMWRSHSTKTVMDFVNSSDNVIFVHNTIHLISQVMDNMVMACGGILPLLS
  AATSATHELENIEPTQGLSIEASVTFLQRLISLVDVLIFASSLGFTEIEAEKSMSSGGIL
  RQCLRLVCAVAVRNCLECQQHSQLKTRGDKALKPMHSLIPLGKSAAKSPVDIVTGGISPV
  RDLDRLLQDMDINRLRAVVFRDIEDSKQAQFLALAVVYFISVLMVSKYRDILEPQNERHS
  QSCTETGSENENVSLSEITPAAFSTLTTASVEESESTSSARRRDSGIGEETATGLGSHVE
  VTPHTAPPGVSAGPDAISEVLSTLSLEVNKSPETKNDRGNDLDTKATPSVSVSKNVNVKD
  ILRSLVNIPADGVTVDPALLPPACLGALGDLSVEQPVQFRSFDRSVIVAAKKSAVSPSTF
  NTSIPTNAVSVVSSVDSAQASDMGGESPGSRSSNAKLPSVPTVDSVSQDPVSNMSITERL
  EHALEKAAPLLREIFVDFAPFLSRTLLGSHGQELLIEGTSLVCMKSSSSVVELVMLLCSQ
  EWQNSIQKNAGLAFIELVNEGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESL
  CAQYSADKREDEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVSRPLEFW
  RLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHVCIFKLRENSKATDEDILAKGKQSI
  RSQALGNQNSENEILLEGDDDTLSSVDEKDLENLAGPVSLSTPAQLVAPSVVVKGTLSVT
  SSELYFEVDEEDPNFKKIDPKILAYTEGLHGKWLFTEIRSIFSRRYLLQNTALEIFMANR
  VAVMFNFPDPATVKKVVNYLPRVGVGTSFGLPQTRRISLASPRQLFKASNMTQRWQHREI
  SNFEYLMFLNTIAGRSYNDLNQYPVFPWVITNYESEELDLTLPTNFRDLSKPIGALNPKR
  AAFFAERYESWEDDQVPKFHYGTHYSTASFVLAWLLRIEPFTTYFLNLQGGKFDHADRTF
  SSISRAWRNSQRDTSDIKELIPEFYYLPEMFVNFNNYNLGVMDDGTVVSDVELPPWAKTS
  EEFVHINRLALESEFVSCQLHQWIDLIFGYKQQGPEAVRALNVFYYLTYEGAVNLNSITD
  PVLREAVEAQIRSFGQTPSQLLIEPHPPRGSAMQVSPLMFTDKAQQDVIMVLKFPSNSPV
  THVAANTQPGLATPAVITVTANRLFAVNKWHNLPAHQGAVQDQPYQLPVEIDPLIASNTG
  MHRRQITDLLDQSIQVHSQCFVITSDNRYILVCGFWDKSFRVYSTDTGRLIQVVFGHWDV
  VTCLARSESYIGGNCYILSGSRDATLLLWYWNGKCSGIGDNPGSETAAPRAILTGHDYEV
  TCAAVCAELGLVLSGSQEGPCLIHSMNGDLLRTLEGPENCLKPKLIQASREGHCVIFYEN
  GLFCTFSVNGKLQATMETDDNIRAIQLSRDGQYLLTGGDRGVVVVRQVSDLKQLFAYPGC
  DAGIRAMALSYDQRCIISGMASGSIVLFYNDFNRWHHEYQTRY

• Sequence length: 2863

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
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
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Common variable immunodeficiency	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	25468195, 22608502, 22721650, 27302973, 28473463, 25479458, 27057999
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Immunodeficiency	Combined immunodeficiency due to LRBA deficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959

Unknown
Disease name	Disease term	dbSNP ID	References
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Colitis	Colitis
Conjunctivitis	Conjunctivitis
Gastritis	Gastritis
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lung diseases	Chronic lung disease
Microphthalmia/coloboma and skeletal dysplasia syndrome	MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Sinusitis	Recurrent sinusitis