SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2)

Gene

• Entrez ID: 6595
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
• Gene symbol: SMARCA2
• Synonyms: BAF190, BIS, BRM, NCBRS, SAMRCA2, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
• Chromosome: 9
• Chromosome location: 9p24.3
• Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs281875184	C>G	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875185	G>T	Pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875186	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875187	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875188	C>A,T	Pathogenic, likely-pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875189	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875190	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875192	C>G,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875196	G>A,C	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875197	G>C,T	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875198	G>C	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875199	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875238	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875239	G>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875240	A>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs387907194	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs797045974	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs797045976	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224921	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224922	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041042	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs886041045	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041299	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041954	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1057518414	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518558	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518982	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518983	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057520784	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057523836	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064794024	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691369	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691978	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1343138502	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1554619354	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623112	C>G,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623885	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, intron variant
rs1554624095	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554624100	G>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554626829	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554629007	T>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1586635371	C>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1586657848	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660338	G>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660370	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660381	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660389	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692481	A>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692548	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692551	G>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586721515	A>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21189327
MIRT021170	hsa-miR-186-5p	Sequencing	20371350
MIRT023063	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023973	hsa-miR-1-3p	Proteomics	18668040
MIRT024676	hsa-miR-215-5p	Microarray	19074876
MIRT026760	hsa-miR-192-5p	Microarray	19074876
MIRT031298	hsa-miR-19b-3p	Sequencing	20371350
MIRT042638	hsa-miR-423-3p	CLASH	23622248
MIRT040280	hsa-miR-615-3p	CLASH	23622248
MIRT107488	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031298	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1371408	hsa-miR-1183	CLIP-seq
MIRT1371409	hsa-miR-128	CLIP-seq
MIRT1371410	hsa-miR-1304	CLIP-seq
MIRT1371411	hsa-miR-1305	CLIP-seq
MIRT1371412	hsa-miR-1321	CLIP-seq
MIRT1371413	hsa-miR-1323	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT1371416	hsa-miR-140-3p	CLIP-seq
MIRT1371417	hsa-miR-19a	CLIP-seq
MIRT1371418	hsa-miR-19b	CLIP-seq
MIRT1371419	hsa-miR-2909	CLIP-seq
MIRT1371420	hsa-miR-3065-5p	CLIP-seq
MIRT1371421	hsa-miR-3162-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT1371427	hsa-miR-3617	CLIP-seq
MIRT1371428	hsa-miR-421	CLIP-seq
MIRT1371429	hsa-miR-4272	CLIP-seq
MIRT1371430	hsa-miR-4289	CLIP-seq
MIRT1371431	hsa-miR-4315	CLIP-seq
MIRT1371432	hsa-miR-4428	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT1371434	hsa-miR-4434	CLIP-seq
MIRT1371435	hsa-miR-4504	CLIP-seq
MIRT1371436	hsa-miR-4516	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371438	hsa-miR-4729	CLIP-seq
MIRT1371439	hsa-miR-4739	CLIP-seq
MIRT1371440	hsa-miR-4756-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT1371442	hsa-miR-518a-5p	CLIP-seq
MIRT1371443	hsa-miR-527	CLIP-seq
MIRT1371444	hsa-miR-548o	CLIP-seq
MIRT1371445	hsa-miR-561	CLIP-seq
MIRT1371446	hsa-miR-641	CLIP-seq
MIRT2110178	hsa-miR-1231	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110181	hsa-miR-3128	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2110184	hsa-miR-4288	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2110186	hsa-miR-4720-5p	CLIP-seq
MIRT2110187	hsa-miR-4799-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2110190	hsa-miR-632	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2394851	hsa-miR-3152-5p	CLIP-seq
MIRT2394852	hsa-miR-3155	CLIP-seq
MIRT2394853	hsa-miR-3155b	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2394854	hsa-miR-4774-3p	CLIP-seq
MIRT2394855	hsa-miR-484	CLIP-seq
MIRT2433319	hsa-miR-101	CLIP-seq
MIRT2433320	hsa-miR-144	CLIP-seq
MIRT2433321	hsa-miR-300	CLIP-seq
MIRT2433322	hsa-miR-3140-3p	CLIP-seq
MIRT2433323	hsa-miR-3613-3p	CLIP-seq
MIRT2433324	hsa-miR-375	CLIP-seq
MIRT2433325	hsa-miR-376a	CLIP-seq
MIRT2433326	hsa-miR-376b	CLIP-seq
MIRT2433327	hsa-miR-381	CLIP-seq
MIRT2433328	hsa-miR-3942-3p	CLIP-seq
MIRT2433329	hsa-miR-411	CLIP-seq
MIRT2433330	hsa-miR-4666-3p	CLIP-seq
MIRT2433331	hsa-miR-4789-5p	CLIP-seq
MIRT2433332	hsa-miR-936	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176
GO:0000785	Component	Chromatin	IDA	12065415
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	17984088
GO:0003677	Function	DNA binding	IBA	21873635
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	17984088
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	12065415, 12200431, 15107404, 15696166, 16341228, 16601680, 17984088, 20111005, 25910212, 26030138, 26787460
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	17984088
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	TAS	17938176
GO:0006355	Process	Regulation of transcription, DNA-templated	TAS	8670841
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8223438
GO:0007286	Process	Spermatid development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008094	Function	DNA-dependent ATPase activity	IBA	21873635
GO:0008094	Function	DNA-dependent ATPase activity	TAS	17938176
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	14660596
GO:0016514	Component	SWI/SNF complex	IDA	11078522
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0042393	Function	Histone binding	IEA
GO:0043044	Process	ATP-dependent chromatin remodeling	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	12065415
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	17984088
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	8208605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15774904
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	17938176
GO:0071564	Component	NpBAF complex	ISS
GO:0071565	Component	NBAF complex	ISS

Other IDs

• MIM: 600014
• HGNC: 11098
• e!Ensembl: ENSG00000080503

Protein

• UniProt ID: P51531
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 (SAMRCA2) (EC 3.6.4.-) (BRG1-associated factor 190B) (BAF190B) (Probable global transcription activator SNF2L2) (Protein brahma homolog) (hBRM) (SNF2-alpha)
• Protein function: ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing c
• PDB: 2DAT, 4QY4, 5DKC, 5DKH, 6EG2, 6EG3, 6HAX, 6HAY, 6HAZ, 7S4E, 7Z6L, 7Z76, 7Z77, 7Z78, 8G1P, 8QJT, 9D11, 9D12, 9E1K, 9E30, 9E31
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08880	QLQ	173 → 207	QLQ	Domain
  PF07529	HSA	437 → 507	HSA	Domain
  PF07533	BRK	589 → 632	BRK domain	Domain
  PF00176	SNF2_N	710 → 1022	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1050 → 1164	Helicase conserved C-terminal domain	Family
  PF14619	SnAC	1244 → 1326	Snf2-ATP coupling, chromatin remodelling complex	Domain
  PF00439	Bromodomain	1411 → 1493	Bromodomain	Domain

• Sequence:

  MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTM
  GSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGY
  MSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLH
  QLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQQQQQQQQQQQQQQPQ
  QQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAA
  AVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQE
  LENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKR
  QTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAV
  ATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRRLAYLLQQTDEYVANL
  TNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHT
  ETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKI
  LLDPNSEEVSEKDAKQIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLI
  NGTLKHYQLQGLEWMVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRLNGPYLIIV
  PLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNVLLTTYEYIIKDKHIL
  AKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLP
  TIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPE
  KVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPY
  MFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMT
  IMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADT
  VVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQ
  AGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDR
  RREDARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDAL
  TEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLSPNP
  PKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYY
  ELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFK
  SARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNR
  GKAKPVVSDFDSDEEQDEREQSEGSGTDDE

• Sequence length: 1590

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Coffin-siris syndrome	Coffin-Siris syndrome	rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977, rs796052242, rs796052240, rs772995852, rs796052241, rs753933273, rs797045272, rs797045277, rs797045278, rs797045279, rs797045280, rs797045281, rs797045282, rs797045283, rs869312697, rs869312712, rs878854600, rs879253746, rs886040958, rs750447037, rs35441529, rs886041878, rs886041706, rs886044620, rs1057518045, rs1057517825, rs1057518951, rs1057519009, rs1057518984, rs1057518648, rs1057518691, rs1554294674, rs1064793482, rs1085307818, rs1085307695, rs1131691706, rs1131692263, rs1028186690, rs1553153771, rs1555155026, rs1554248236, rs1554265319, rs1554301230, rs1554231836, rs1554231845, rs1554234341, rs1554237269, rs1554265275, rs1554270809, rs1554294698, rs1404726383, rs758120346, rs1555031372, rs1554231278, rs1555155252, rs1555139310, rs1553152590, rs1554298232, rs1554238072, rs773740590, rs1554237992, rs1554237658, rs1554233122, rs1554236040, rs1554256703, rs201653711, rs1554238035, rs1554237785, rs1554232959, rs1555031500, rs1555032051, rs1555032044, rs1555032074, rs1555154946, rs1334099693, rs1555605795, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs377021700, rs1451259945, rs1562345819, rs1554294593, rs1562350940, rs1554231904, rs1565642121, rs1565903353, rs1206884190, rs1565903367, rs1565917836, rs1565896447, rs1562354784, rs1464282327, rs1582601669, rs1582601747, rs1583469292, rs1426841589, rs1582908829, rs1583280025, rs1583368813, rs1583513256, rs1583516082, rs1583438967, rs1554232919, rs1583280152, rs1583451360, rs1289067120, rs1583451146, rs1583502875, rs1554248082, rs1583491381, rs1583491515, rs1583518354, rs1592145571, rs754167205, rs1592118927, rs1592324196, rs1592121202, rs1592289150, rs1592294569, rs1592295890, rs1592295914, rs372368908, rs943407609, rs1417035592, rs1794276185, rs1554265316, rs1554232925	22426308
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Mental retardation	Severe intellectual disability, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 12, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	22366787
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nicolaides baraitser syndrome	Nicolaides Baraitser syndrome, Nicolaides-Baraitser syndrome	rs281875238, rs281875239, rs281875187, rs281875240, rs281875184, rs281875185, rs281875186, rs281875188, rs281875189, rs281875190, rs281875198, rs387907194, rs281875207, rs281875192, rs281875197, rs797045974, rs797045976, rs863224922, rs863224921, rs886041045, rs281875196, rs1057518414, rs1060499668, rs1554623112, rs1554624100, rs1569231336, rs1586721515, rs1586692551, rs1586660389	22366787, 23906836, 22426308, 27665729
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19363039, 16749937, 24736721, 20457675
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Absent eyebrow	Absent eyebrow
Alopecia	Alopecia
Aphasia	Aphasia
Blepharophimosis	Blepharophimosis
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		25249037, 19606471, 8287185, 25169058, 22366787, 14564210
Dysphasia	Dysphasia
Eczema	Eczema
Macrostomia	Macrostomia
Malignant mesothelioma	Malignant mesothelioma		25756049
Movement disorders	Movement Disorders		8287185, 22366787, 19606471, 25169058, 25249037, 14564210
Salaam seizures	Salaam Seizures
Specific learning disorder	Specific learning disability	rs1057519497
Status epilepticus	Status Epilepticus