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C1S (complement C1s)

Gene

716

Complement C1s

C1S

EDSPD2

12p13.31

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in thi

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909582	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886040974	TGT>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, inframe indel
rs886040975	T>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant

Show/Hide all(207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018885	hsa-miR-335-5p	Microarray	18185580
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609887	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609889	hsa-miR-4435	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609890	hsa-miR-588	HITS-CLIP	27418678
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609892	hsa-miR-548s	HITS-CLIP	23824327
MIRT609891	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT609890	hsa-miR-588	HITS-CLIP	23824327
MIRT609889	hsa-miR-4435	HITS-CLIP	23824327
MIRT609888	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT609887	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT842584	hsa-miR-583	CLIP-seq
MIRT842585	hsa-miR-618	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT2491652	hsa-miR-1283	CLIP-seq
MIRT2491653	hsa-miR-1297	CLIP-seq
MIRT2491654	hsa-miR-130a	CLIP-seq
MIRT2491655	hsa-miR-130b	CLIP-seq
MIRT2491656	hsa-miR-186	CLIP-seq
MIRT2491657	hsa-miR-188-5p	CLIP-seq
MIRT2491658	hsa-miR-26a	CLIP-seq
MIRT2491659	hsa-miR-26b	CLIP-seq
MIRT2491660	hsa-miR-301a	CLIP-seq
MIRT2491661	hsa-miR-301b	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT2491662	hsa-miR-3190	CLIP-seq
MIRT2491663	hsa-miR-338-5p	CLIP-seq
MIRT2491664	hsa-miR-339-5p	CLIP-seq
MIRT2491665	hsa-miR-3666	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT2491666	hsa-miR-4255	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT2491667	hsa-miR-4295	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT2491668	hsa-miR-4465	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT2491669	hsa-miR-454	CLIP-seq
MIRT2491670	hsa-miR-4671-3p	CLIP-seq
MIRT2491671	hsa-miR-4694-3p	CLIP-seq
MIRT2491672	hsa-miR-4696	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT2491673	hsa-miR-522	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT2491674	hsa-miR-580	CLIP-seq
MIRT842584	hsa-miR-583	CLIP-seq
MIRT842578	hsa-miR-1276	CLIP-seq
MIRT2491652	hsa-miR-1283	CLIP-seq
MIRT2491653	hsa-miR-1297	CLIP-seq
MIRT2491654	hsa-miR-130a	CLIP-seq
MIRT2491655	hsa-miR-130b	CLIP-seq
MIRT2491656	hsa-miR-186	CLIP-seq
MIRT2491657	hsa-miR-188-5p	CLIP-seq
MIRT2491658	hsa-miR-26a	CLIP-seq
MIRT2491659	hsa-miR-26b	CLIP-seq
MIRT2491660	hsa-miR-301a	CLIP-seq
MIRT2491661	hsa-miR-301b	CLIP-seq
MIRT842579	hsa-miR-3125	CLIP-seq
MIRT2676788	hsa-miR-3153	CLIP-seq
MIRT842575	hsa-miR-3189-5p	CLIP-seq
MIRT2491662	hsa-miR-3190	CLIP-seq
MIRT2491663	hsa-miR-338-5p	CLIP-seq
MIRT2491664	hsa-miR-339-5p	CLIP-seq
MIRT2491665	hsa-miR-3666	CLIP-seq
MIRT842576	hsa-miR-371b-3p	CLIP-seq
MIRT842580	hsa-miR-3916	CLIP-seq
MIRT2491666	hsa-miR-4255	CLIP-seq
MIRT842581	hsa-miR-4261	CLIP-seq
MIRT2491667	hsa-miR-4295	CLIP-seq
MIRT842582	hsa-miR-4311	CLIP-seq
MIRT2491668	hsa-miR-4465	CLIP-seq
MIRT842583	hsa-miR-4496	CLIP-seq
MIRT2491669	hsa-miR-454	CLIP-seq
MIRT2491670	hsa-miR-4671-3p	CLIP-seq
MIRT2491671	hsa-miR-4694-3p	CLIP-seq
MIRT2491672	hsa-miR-4696	CLIP-seq
MIRT842577	hsa-miR-4758-3p	CLIP-seq
MIRT2491673	hsa-miR-522	CLIP-seq
MIRT1545927	hsa-miR-548ag	CLIP-seq
MIRT1545928	hsa-miR-548ai	CLIP-seq
MIRT2491674	hsa-miR-580	CLIP-seq
MIRT842584	hsa-miR-583	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0004252	Function	Serine-type endopeptidase activity	IDA	11527969
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2387866, 12788922, 17996945, 25910212, 28514442, 31749804, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	TAS
GO:0006958	Process	Complement activation, classical pathway	TAS
GO:0030449	Process	Regulation of complement activation	TAS
GO:0042802	Function	Identical protein binding	IPI	2387866, 12788922
GO:0045087	Process	Innate immune response	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
120580	1247	ENSG00000182326

Protein

UniProt ID

P09871

Protein name

Complement C1s subcomponent (EC 3.4.21.42) (C1 esterase) (Complement component 1 subcomponent s) [Cleaved into: Complement C1s subcomponent heavy chain (Complement C1s subcomponent chain A); Complement C1s subcomponent light chain (Complement C1s subcompo

Protein function

Component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive

PDB

1ELV , 1NZI , 4J1Y , 4LMF , 4LOR , 4LOS , 4LOT , 6F1C , 6F1H , 8GMN , 8TYP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	16 → 127	CUB domain	Domain
PF14670	FXa_inhibition	135 → 171		Domain
PF00431	CUB	175 → 287	CUB domain	Domain
PF00084	Sushi	294 → 354	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	359 → 421	Sushi repeat (SCR repeat)	Domain
PF00089	Trypsin	438 → 675	Trypsin	Domain

Sequence

MWCIVLFSLLAWVYAEPTMYGEILSPNYPQAYPSEVEKSWDIEVPEGYGIHLYFTHLDIE
LSENCAYDSVQIISGDTEEGRLCGQRSSNNPHSPIVEEFQVPYNKLQVIFKSDFSNEERF
TGFAAYYVATDINECTDFVDVPCSHFCNNFIGGYFCSCPPEYFLHDDMKNCGVNCSGDVF
TALIGEIASPNYPKPYPENSRCEYQIRLEKGFQVVVTLRREDFDVEAADSAGNCLDSLVF
VAGDRQFGPYCGHGFPGPLNIETKSNALDIIFQTDLTGQKKGWKLRYHGDPMPCPKEDTP
NSVWEPAKAKYVFRDVVQITCLDGFEVVEGRVGATSFYSTCQSNGKWSNSKLKCQPVDCG
IPESIENGKVEDPESTLFGSVIRYTCEEPYYYMENGGGGEYHCAGNGSWVNEVLGPELPK
CVPVCGVPREPFEEKQRIIGGSDADIKNFPWQVFFDNPWAGGALINEYWVLTAAHVVEGN
REPTMYVGSTSVQTSRLAKSKMLTPEHVFIHPGWKLLEVPEGRTNFDNDIALVRLKDPVK
MGPTVSPICLPGTSSDYNLMDGDLGLISGWGRTEKRDRAVRLKAARLPVAPLRKCKEVKV
EKPTADAEAYVFTPNMICAGGEKGMDSCKGDSGGAFAVQDPNDKTKFYAAGLVSWGPQCG
TYGLYTRVKNYVDWIMKTMQENSTPRED

Sequence length

688

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Pertussis Staphylococcus aureus infection Coronavirus disease - COVID-19 Systemic lupus erythematosus		Initial triggering of complement Classical antibody-mediated complement activation Regulation of Complement cascade

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Angioedema	Hereditary Angioedema Type II, Hereditary Angioedema Types I and II, Hereditary Angioedema Type I	rs28940870, rs1554996819, rs1554996817, rs112565881, rs2135304804, rs121907951, rs281875174, rs281875178, rs281875168, rs281875170, rs281875171, rs1554995255, rs1554995860, rs886041353, rs978962357, rs1554995774, rs763451792, rs1554995271, rs1554996833, rs1554995260, rs1565169419, rs1565173405, rs1565168898, rs1590822296, rs1565169621, rs1565170287, rs1565170364, rs1565171906, rs1565173309, rs1565174105, rs922149386, rs1590822719, rs1590821401, rs1590822588, rs1590822739, rs1590823884, rs1590826571, rs1590829609, rs1590829616, rs1590829763, rs1590831385, rs1590831432, rs956390201, rs1590831545, rs1590829685, rs778625408, rs1582955358, rs1599142041, rs1945310324, rs1945307391, rs1945416520	3184114
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	11390518
Complement component deficiency	Complement Component C1s Deficiency, Complement deficiency disease	rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814	20727163
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Ehlers-danlos syndrome	Ehlers-Danlos Syndrome, Type VIII	rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914, rs397509370, rs587779443, rs869312034, rs397509371, rs121912927, rs121912915, rs121912928, rs397509372, rs397509373, rs397509374, rs121912916, rs121912917, rs121912918, rs112456072, rs387906557, rs397509375, rs121912920, rs397509376, rs121912921, rs121912922, rs121912923, rs121912924, rs121912925, rs121912926, rs1553507557, rs72656357, rs67398234, rs66820119, rs72656364, rs72656355, rs67162110, rs72659324, rs72645347, rs67828806, rs397509377, rs387906850, rs766853150, rs72656387, rs397514721, rs533071750, rs267599120, rs398122361, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779528, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs587779629, rs786200946, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779694, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs587777682, rs794728040, rs794728044, rs794728054, rs794728060, rs863223491, rs375845310, rs878853651, rs187063864, rs886038952, rs886038892, rs72656370, rs67507747, rs886042045, rs886042173, rs1057518075, rs1057518372, rs749890642, rs74315111, rs1057518653, rs1057519596, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs72658185, rs1114167416, rs67865220, rs72648326, rs72645321, rs72667036, rs1114167408, rs1085307896, rs1131691996, rs1553509397, rs1554227382, rs1554796176, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553507274, rs1553509430, rs72656356, rs786205100, rs1213427451, rs1555572239, rs1554781678, rs1553508338, rs72656363, rs1553507863, rs1553508039, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1393544920, rs1553510000, rs72658129, rs1553151294, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1410254723, rs1179967153, rs1553509726, rs1553508473, rs1559058970, rs1559061674, rs112532745, rs1559052551, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1559058482, rs1234344050, rs1564481053, rs1559054653, rs1173194734, rs1562906013, rs1439043436, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs776640704, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1588562135, rs1576468562, rs1576471840, rs1333421028, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1588597744, rs1576467391, rs1588477255, rs1588621711, rs1688258933, rs1688305296, rs1688322272, rs1688384382, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1685782021, rs1686209873, rs1553506938	27745832
Periodontal ehlers-danlos syndrome	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2, Periodontal Ehlers-Danlos syndrome	rs886040974, rs886040975, rs1057518645, rs760277934, rs769707492, rs1057515579, rs1057518646, rs1057518643, rs1057519026, rs1057519025, rs1057519580, rs1057519579, rs1057519578, rs1057519577, rs1057519576, rs1060499554	28306225, 27745832
Immunodeficiency	Immunodeficiency due to a classical component pathway complement 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
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Anodontia	Anodontia of Permanent Dentition
Autoimmune hepatitis	Autoimmune Chronic Hepatitis		11390518
Congenital exomphalos	Congenital exomphalos
Dwarfism	Dwarfism
Hashimoto disease	Hashimoto Disease		11390518
Lupus erythematosus	Lupus Erythematosus, Systemic		20727163
Microdontia	Microdontia (disorder)
Micrognathism	Micrognathism
Neoplasms	Neoplasms

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