SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23347 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Structural maintenance of chromosomes flexible hinge domain containing 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SMCHD1 |
SynonymsGene synonyms aliases
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BAMS, FSHD2 |
ChromosomeChromosome number
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18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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18p11.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011] |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs58683258 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs72862973 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs76290319 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs112500113 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs144115061 |
T>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
| rs145233420 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs201069969 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs201466122 |
T>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
| rs201631086 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, not-provided |
Intron variant |
| rs369550628 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant |
| rs371834462 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs372945746 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
| rs374154803 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
| rs374899324 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant |
| rs375251871 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant |
| rs376328601 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant |
| rs377471712 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs387907319 |
TGATA>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained, non coding transcript variant |
| rs397514623 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs397518422 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs535674229 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant |
| rs542259388 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs553970445 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs755868793 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
| rs778279069 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs778892054 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs867104086 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
| rs867598503 |
TT>-,TTT |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs886041918 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886041921 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs886042392 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs886042417 |
G>A |
Pathogenic |
Splice donor variant |
| rs886043146 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs886043182 |
GA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs886043464 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, intron variant, coding sequence variant, genic downstream transcript variant |
| rs886044129 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs886044257 |
->A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs886044369 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Splice donor variant |
| rs886044408 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant |
| rs886044419 |
T>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886044914 |
ATC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs1057519614 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1057519639 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1057519640 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1057519641 |
G>A,C,T |
Pathogenic |
5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1057519642 |
A>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1057519643 |
A>C,G |
Likely-benign, pathogenic |
5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1057519644 |
G>A |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1057519645 |
A>T |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1057519646 |
G>A,T |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1135402737 |
T>C |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1135402738 |
T>A |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1135402739 |
A>C |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1135402740 |
T>G |
Pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs1135402741 |
C>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1135402742 |
A>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1135402743 |
G>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1135402744 |
C>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1135402745 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1204021010 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1245372794 |
G>A |
Pathogenic |
Splice donor variant |
| rs1329504858 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
| rs1555625396 |
G>A |
Pathogenic |
Splice donor variant |
| rs1555635144 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1555642277 |
AGTAA>- |
Pathogenic |
Non coding transcript variant, intron variant, splice donor variant, coding sequence variant |
| rs1555644339 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1555647265 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1555651730 |
->CAGA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1555654127 |
G>C |
Pathogenic |
Intron variant, genic downstream transcript variant, splice donor variant |
| rs1555658855 |
->A |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
| rs1568183325 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568188407 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568261067 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568280995 |
G>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1568350731 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568383892 |
T>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant |
| rs1598416221 |
G>A |
Pathogenic |
Coding sequence variant, synonymous variant, non coding transcript variant |
| rs1598426626 |
G>A |
Likely-pathogenic |
Intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
A6NHR9 |
| Protein name |
Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-) |
| Protein function |
Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and c |
| PDB |
6MW7
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF13589 |
HATPase_c_3 |
139 → 295 |
|
Domain |
| PF06470 |
SMC_hinge |
1719 → 1847 |
SMC proteins Flexible Hinge Domain |
Domain |
|
Sequence |
MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACV
CQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPH
YDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV
AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGK
QAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITN
DDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN
EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRL
IPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT
LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYA
AIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDE
VRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI
EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKME
NIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP
FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK
NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNI
TAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKD
VAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE
INITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFT
VRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVG
LDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI
DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTD
EKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDAS
FLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDND
KEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTP
AVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRT
LEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQ
QQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP
TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMV
ISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLY
FKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLL
TRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLD
SVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETT
DCPVPPKRMRREATRQNRIITKTDV
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| Sequence length |
2005 |
| Interactions |
View interactions |
| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Cataract |
Cataract |
rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 |
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| Arrhinia with choanal atresia and microphthalmia syndrome |
Arhinia, choanal atresia, and microphthalmia |
rs1057519640, rs1057519641, rs1057519642, rs1057519644, rs1057519645, rs1057519646, rs1135402737, rs1135402738, rs1135402739, rs1135402741, rs1135402742, rs1135402743, rs1135402744, rs1135402745 |
28067909, 29748383, 28067911 |
| Congenital ocular coloboma |
Congenital ocular coloboma (disorder) |
rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799 |
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| Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
28067909 |
| Facioscapulohumeral muscular dystrophy |
Muscular Dystrophy, Facioscapulohumeral, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B |
rs387907319, rs397514623, rs1057519614, rs1598416221, rs886041918, rs886042417, rs1057519644, rs1245372794, rs1555642277, rs1555644339, rs1555647265, rs886044369, rs1568350731, rs377471712, rs2075161300, rs2075566961, rs2075161499 |
23143600, 24128691, 24075187, 23143600, 29748383, 28067909, 28067911, 25370034, 25256356, 27059856, 24075187, 24128691 |
| Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
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| Microphthalmos |
Microphthalmos |
rs794726862, rs1329285216 |
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| Muscular dystrophy |
Muscular Dystrophy, Scapulohumeral |
rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710 |
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| Syndromic microphthalmia |
Anophthalmos |
rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Arrhinia |
Arrhinia |
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| Choanal atresia |
Choanal Atresia |
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| Congenital coloboma of iris |
Congenital coloboma of iris |
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| Congenital hypoplasia of penis |
Congenital hypoplasia of penis |
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| Facioscapulohumeral dystrophy |
Facioscapulohumeral dystrophy |
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|
| Gynecomastia |
Gynecomastia |
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| High palate |
Byzanthine arch palate |
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| Hypogonadism |
Hypogonadism |
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| Hypoplasia of the olfactory bulb |
Hypoplasia of the olfactory bulb |
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| Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
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|
| Penis agenesis |
Penis agenesis |
|
|
| Physiologic amenorrhea |
Primary physiologic amenorrhea |
|
|
| Submucosal cleft palate |
Submucous cleft of hard palate |
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