CLCN1 (chloride voltage-gated channel 1)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1180 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Chloride voltage-gated channel 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CLCN1 |
SynonymsGene synonyms aliases
|
CLC1 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q34 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs55960271 |
C>A,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, stop gained, synonymous variant, coding sequence variant |
| rs80356684 |
A>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs80356685 |
C>G |
Uncertain-significance, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs80356686 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs80356687 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs80356688 |
C>T |
Pathogenic |
Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs80356689 |
T>C |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356690 |
C>G,T |
Pathogenic |
Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356691 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356692 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356693 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356694 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356695 |
C>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356696 |
A>G,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356697 |
T>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356698 |
->CTCA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80356699 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs80356700 |
G>A,T |
Pathogenic |
Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs80356701 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356702 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356703 |
G>A,T |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs80356704 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356706 |
C>T |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356707 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs121912799 |
T>G |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs121912801 |
G>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121912805 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
| rs121912807 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121912810 |
C>T |
Pathogenic |
Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs139039122 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs140026363 |
->G |
Pathogenic |
Intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs142539932 |
C>T |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant |
| rs146457619 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs147493705 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
| rs149316679 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, coding sequence variant, missense variant |
| rs149729531 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs149892539 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs150885084 |
G>A |
Pathogenic |
Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs201714423 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
| rs201850090 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs201855153 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs201894078 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs201919331 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, intron variant |
| rs202119213 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs202179484 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant |
| rs202217420 |
A>G,T |
Pathogenic |
Genic upstream transcript variant, intron variant |
| rs369773321 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
| rs375596425 |
G>A |
Pathogenic |
Splice donor variant |
| rs529377088 |
G>A |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
| rs543120965 |
T>C |
Likely-pathogenic |
Intron variant |
| rs561470261 |
A>T |
Pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, stop gained |
| rs746125212 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs746691295 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant, missense variant |
| rs748639603 |
T>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
| rs752041565 |
TTTG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs755176513 |
->C |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs756199349 |
G>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs756981034 |
C>T |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
| rs759188441 |
G>A |
Likely-pathogenic |
Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
| rs759761559 |
C>T |
Likely-pathogenic, pathogenic |
Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
| rs762344462 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs762754992 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs763633152 |
->C |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs764100025 |
G>A |
Likely-pathogenic, pathogenic |
Upstream transcript variant, missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs767000881 |
G>A,C |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, missense variant |
| rs768119034 |
ACCCTGCGGAGGCT>- |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs769861892 |
G>A,T |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs770081373 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs770900468 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs771002652 |
G>A |
Pathogenic |
Splice donor variant |
| rs771532474 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
| rs771721648 |
G>A |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs774396430 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, missense variant |
| rs774843953 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs776073429 |
G>A |
Likely-pathogenic, pathogenic |
Intron variant, splice donor variant, genic upstream transcript variant |
| rs777685454 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs780534566 |
CT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs780834658 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs797045032 |
GG>TC |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant |
| rs886041384 |
T>A |
Pathogenic |
Splice donor variant |
| rs886042007 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1057518917 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1064794643 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1085307989 |
T>C |
Likely-pathogenic |
Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
| rs1131691551 |
G>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1222525763 |
G>C,T |
Pathogenic |
Splice acceptor variant |
| rs1229066957 |
G>A |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained |
| rs1273524525 |
G>A,C,T |
Pathogenic |
Splice donor variant |
| rs1282349760 |
G>A |
Likely-pathogenic |
Upstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant |
| rs1320040467 |
->G |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
| rs1337473924 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, stop gained, upstream transcript variant, non coding transcript variant, synonymous variant |
| rs1347382107 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, synonymous variant |
| rs1417174086 |
C>A,G |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1423567292 |
G>- |
Likely-pathogenic, pathogenic |
Intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice acceptor variant |
| rs1474520642 |
G>A |
Likely-pathogenic, uncertain-significance |
Intron variant |
| rs1478129213 |
C>T |
Likely-pathogenic, uncertain-significance |
Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
| rs1554434400 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained |
| rs1554434794 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554434857 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained |
| rs1554436419 |
CG>TA |
Pathogenic |
Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained |
| rs1554436427 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant |
| rs1554436510 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant |
| rs1554436799 |
T>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1554438053 |
GGAGGC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs1554438432 |
CA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554438441 |
->TC |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554438471 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1554438574 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1554439817 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs1563074191 |
GCCTA>- |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
| rs1563075864 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant |
| rs1563078827 |
G>A |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice donor variant |
| rs1563084597 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1563086980 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1563090141 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1586484463 |
C>GGA |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, frameshift variant |
| rs1586485406 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
| rs1586487826 |
T>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs1586496726 |
CGG>TGA |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
| rs1586499614 |
C>-,CC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs1586510870 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1586514992 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1586515112 |
GC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
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
|
| UniProt ID |
P35523 |
| Protein name |
Chloride channel protein 1 (ClC-1) (Chloride channel protein, skeletal muscle) |
| Protein function |
Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential and contributes to the repolarization phase |
| PDB |
6COY
,
6COZ
,
6QV6
,
6QVB
,
6QVC
,
6QVD
,
6QVU
,
8WXI
,
8WXJ
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00654 |
Voltage_CLC |
170 → 572 |
Voltage gated chloride channel |
Family |
|
Sequence |
|
| Sequence length |
988 |
| Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
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| Associated diseases
|
| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| 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 |
|
| Congenital myotonia |
Becker Generalized Myotonia, Generalized Myotonia of Thomsen |
rs121912799, rs80356700, rs1563078827, rs121912801, rs80356694, rs80356696, rs80356690, rs121912805, rs80356702, rs121912807, rs140026363, rs55960271, rs80356699, rs1586496726, rs80356703, rs80356695, rs80356704, rs80356697, rs80356687, rs80356701, rs80356691, rs80356692, rs762754992, rs776073429, rs146457619, rs768119034, rs886041384, rs202217420, rs1057518917, rs759761559, rs756199349, rs1131691551, rs1229066957, rs774396430, rs767000881, rs756981034, rs763633152, rs769861892, rs375596425, rs1320040467, rs543120965, rs1554434400, rs759188441, rs1554434794, rs764100025, rs746125212, rs1027814542, rs529377088, rs752041565, rs770605959, rs770900468, rs1360333956, rs546411827, rs778647317, rs1803112361, rs1273524525, rs1460714146, rs1802715644 |
27614575, 23152584, 12390967, 19697366, 22521272, 1379744, 9566422, 10665666, 27118449, 18035046, 11840191, 27415035, 21221019, 26510092, 7951215, 28706458, 23739125, 18337730, 17932099, 26096614, 9736777, 11408615, 27296017, 18337100, 17097617, 25036107, 26007199, 15311340, 22649220, 27580824, 25438602, 22094069, 25749817, 23516313, 12661046, 23097607, 7874130, 10215406, 7951242, 24530047, 22921319, 22407275, 25065301, 22197187, 10644771, 21387378, 26502825, 26633545, 27142102, 17654559, 10051520, 9158157, 10430417, 17990293, 24349310, 8845168, 20399394, 10962018, 10737121, 12456818, 24304580, 11113225, 8112288, 28427807, 22346025, 22995991, 26021757, 24452722, 24037712, 7981750, 23225051, 8857733, 8533761, 7981681, 22641783, 23893571, 15162127, 7581380, 19949657, 23113340, 23810313, 10690989, 24515601, 23424641, 18220014, 20181190, 21204798, 23933576, 9122265, 8571958, 9040760, 27199537, 21045501, 27580824, 22649220, 17990293, 9158157, 23893571, 23516313, 27118449, 25065301, 17932099, 23113340, 10962018, 21204798, 11840191, 8845168, 25036107, 10644771, 23097607, 21387378, 23152584, 22197187, 12661046, 23225051, 8112288, 24349310, 12390967, 10665666, 25749817, 10690989, 25438602, 24515601, 24452722, 7981750, 22407275, 7581380, 9122265, 24037712, 21221019, 22094069, 24304580, 19949657, 27614575, 18035046, 7951215, 17097617, 28427807, 18337730, 19697366, 15162127, 15311340, 23424641, 21045501, 22921319, 26502825, 10430417, 27415035, 23739125, 1379744, 9566422, 27653901, 26096614, 27666773, 24530047, 17654559, 23810313, 28706458, 8857733, 9736777, 12456818, 27199537, 26633545, 18337100, 22521272, 20399394, 27142102, 27296017, 9040760, 26021757, 10737121, 23933576, 8533761, 26007199, 22346025, 11408615, 18220014, 20181190, 10051520, 7951242, 22995991, 7874130 |
| Hyperkalemic periodic paralysis |
Hyperkalemic periodic paralysis |
rs80338957, rs80338962, rs121908544, rs121908545, rs80338958, rs121908546, rs121908556, rs80338792, rs121908547, rs121908548, rs121908549, rs121908551, rs121908552, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs121908559, rs80338956, rs80338955, rs80338789, rs80338959, rs80338960, rs527236148, rs527236150, rs864622785, rs886041805, rs750053946, rs1057521065, rs1064794243, rs1064795409, rs1555601448, rs780703403, rs1555600605, rs763893717, rs1567816549, rs771340029, rs1567817380, rs1567816461, rs1199222144, rs1235665641, rs774453167, rs1598405334, rs1567819905, rs1597985462, rs1908593639, rs1908916380, rs897448432, rs1909519361, rs1909650741 |
22649220 |
| Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
|
| Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Dysphagia |
Deglutition Disorders |
|
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| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
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| Myotonia congenita |
Myotonia Congenita |
|
24349310, 10430417, 18807109, 17932099, 11408615, 22649220, 21387378, 12390967, 20399394, 15786415, 11840191, 15241802, 8571958, 18337100, 23417379, 23516313, 8533761, 9736777, 7581380, 22094069, 9040658, 23152584, 23739125, 24920213, 12661046, 9158157, 11113225, 26036855 |
| Myotonia levior |
Myotonia Levior |
|
20399394 |
| Thomsen and becker disease |
Thomsen and Becker disease |
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