MC1R (melanocortin 1 receptor)

Gene

• Entrez ID: 4157
• Gene name: Melanocortin 1 receptor
• Gene symbol: MC1R
• Synonyms (NCBI Gene): CMM5, MSH-R, SHEP2
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1110400	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805006	C>A,G	Likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805007	C>A,G,T	Pathogenic, association, likely-benign, benign, affects, risk-factor	Missense variant, coding sequence variant
rs1805008	C>T	Pathogenic, association, likely-benign, affects, risk-factor	Missense variant, coding sequence variant
rs34158934	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs34474212	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs34540312	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs104894523	C>A,T	Risk-factor	Coding sequence variant, missense variant
rs104894524	C>G,T	Risk-factor	Coding sequence variant, missense variant
rs201326893	C>A	Likely-benign, uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs201533137	C>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs370441592	C>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, synonymous variant
rs373224783	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs376670171	G>A,T	Likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs747777879	GTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1310082996	TCT>-	Risk-factor	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136269	hsa-miR-1202	CLIP-seq
MIRT1136270	hsa-miR-1205	CLIP-seq
MIRT1136271	hsa-miR-1286	CLIP-seq
MIRT1136272	hsa-miR-3120-5p	CLIP-seq
MIRT1136273	hsa-miR-346	CLIP-seq
MIRT1136274	hsa-miR-3972	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136276	hsa-miR-4288	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT1136278	hsa-miR-4446-3p	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT1136280	hsa-miR-4649-5p	CLIP-seq
MIRT1136281	hsa-miR-4675	CLIP-seq
MIRT1136282	hsa-miR-4685-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT1136284	hsa-miR-4722-5p	CLIP-seq
MIRT1136285	hsa-miR-4741	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT1136287	hsa-miR-4755-3p	CLIP-seq
MIRT1136288	hsa-miR-4776-3p	CLIP-seq
MIRT1136289	hsa-miR-626	CLIP-seq
MIRT1136290	hsa-miR-632	CLIP-seq
MIRT1136291	hsa-miR-635	CLIP-seq
MIRT2038779	hsa-miR-1178	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038781	hsa-miR-1343	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038783	hsa-miR-3074-5p	CLIP-seq
MIRT2038784	hsa-miR-3124-3p	CLIP-seq
MIRT2038785	hsa-miR-3165	CLIP-seq
MIRT2038786	hsa-miR-3189-5p	CLIP-seq
MIRT2038787	hsa-miR-342-5p	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038789	hsa-miR-3691-5p	CLIP-seq
MIRT2038790	hsa-miR-4264	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT2038793	hsa-miR-4651	CLIP-seq
MIRT2038794	hsa-miR-4664-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT2038795	hsa-miR-4704-3p	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038798	hsa-miR-499a-5p	CLIP-seq
MIRT2038799	hsa-miR-513a-5p	CLIP-seq
MIRT2038800	hsa-miR-556-3p	CLIP-seq
MIRT2038801	hsa-miR-608	CLIP-seq
MIRT2038802	hsa-miR-616	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038804	hsa-miR-767-3p	CLIP-seq
MIRT2268784	hsa-miR-338-5p	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	12204775

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	TAS	9571181
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IEA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 31097585
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19452503, 31097585
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9571181
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9571181
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	18292087
GO:0008528	Function	G protein-coupled peptide receptor activity	TAS	18292087
GO:0009650	Process	UV protection	TAS	7581459
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19737927
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	10233018
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS	18292087
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042562	Function	Hormone binding	IEA
GO:0043473	Process	Pigmentation	TAS	18292087
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18292087
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0070914	Process	UV-damage excision repair	IDA	18292087
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IBA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IEA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	ISS	18292087
GO:2000253	Process	Positive regulation of feeding behavior	IEA

Other IDs

• MIM: 155555
• HGNC: 6929
• e!Ensembl: ENSG00000258839

Protein

• UniProt ID: Q01726
• Protein name: Melanocyte-stimulating hormone receptor (MSH-R) (Melanocortin receptor 1) (MC1-R)
• Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11707265, PubM
• PDB: 7F4D, 7F4F, 7F4H, 7F4I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	55 → 298	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:1325670, PubMed:31097585). Expressed in corticoadrenal tissue (PubMed:1325670). {ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:31097585}.
• Sequence:

  MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVV
  ATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVI
  DVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFI
  AYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
  VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAF
  HSQELRRTLKEVLTCSW

• Sequence length: 317

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Melanogenesis

Reactome:

Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Skin and Hair Hypopigmentation	Likely pathogenic	rs143395134	RCV000851265
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2	Likely pathogenic; Pathogenic	rs2045705764	RCV001310272
Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	rs143395134	RCV000662304

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF	Conflicting classifications of pathogenicity	rs1805007	RCV000015387
bilateral breast cancer	Uncertain significance	rs779504604	RCV001004845
Familial melanoma	Uncertain significance	rs796296176, rs780813746	RCV005361400 RCV005361399
Hereditary cancer-predisposing syndrome	Uncertain significance	rs369674161, rs747777879	RCV005412446 RCV005427234
Increased analgesia from kappa-opioid receptor agonist, female-specific	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1376244060, rs371458749, rs1110400, rs377580634, rs3212365, rs885479, rs367998996, rs201326893, rs2544609736, rs1805005, rs1805007, rs34090186, rs3212366, rs200050206, rs201171524, rs779504604, rs34540312, rs201489928, rs555179612, rs200215218, rs755918287, rs527673999, rs527697723	RCV002488099 RCV005006147 RCV005008187 RCV000764097 RCV002500892 RCV002500893 RCV002494738 RCV005016656 RCV005013055 RCV002476972 RCV000015386 RCV002495012 RCV002504092 RCV000764094 RCV004567968 RCV000764093 RCV000764095 RCV000764096 RCV005018956 RCV000764098 RCV005010697 RCV002499414 RCV002504466
Macular degeneration, age-related, neovascular type	Benign	rs3212351	RCV004039939
Malignant Melanoma Susceptibility	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs369402699, rs886052507, rs774718264, rs886052501, rs541142974, rs376670171	RCV000295660 RCV000267969 RCV000271574 RCV000280762 RCV000366227 RCV000354729
Malignant tumor of breast	Benign; Likely benign	rs1805005	RCV001269496
MC1R-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance; risk factor	rs375672150, rs541831292, rs201533137, rs201192930, rs2045694978, rs1805009, rs34090186, rs3212366, rs377411334	RCV003938675 RCV003968858 RCV004754363 RCV003929955 RCV003406117 RCV003891437 RCV003922360 RCV003972374 RCV003892793
Melanoma	Conflicting classifications of pathogenicity; risk factor	rs1805009	RCV001195217
Melanoma, cutaneous malignant, susceptibility to, 1	Likely benign	rs200965363	RCV001824733
Melanoma, cutaneous malignant, susceptibility to, 5	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity; risk factor	rs2045688399, rs746511891, rs752927306, rs1414374650, rs2045705046, rs747847234, rs374423188, rs779593625, rs369807854, rs1365355512, rs1376244060, rs2144392840, rs755222490, rs371055548, rs375672150, rs374760264, rs1410997617, rs765848904, rs773313328, rs2144390786, rs573416648, rs1362732149, rs34209185, rs372353477, rs550480383, rs760953265, rs564161331, rs367998996, rs538459120, rs34612847, rs376709880, rs2144391372, rs371458749, rs780650451, rs754647280, rs766080391, rs774680166, rs377025135, rs770551931, rs372590533, rs1437472612, rs748173401, rs35040147, rs371906898, rs2144391217, rs373990019, rs775798496, rs2144392802, rs778930648, rs1410281892, rs370094672, rs1384239934, rs1567757953, rs552512218, rs771596986, rs377248188, rs2144391577, rs2045691984, rs561571645, rs368501338, rs2144393056, rs2045703274, rs754573808, rs765120108, rs924429375, rs775933691, rs769723368, rs370073863, rs2144391623, rs2144392750, rs369542041, rs377122753, rs540424761, rs2045708145, rs370472871, rs1209087043, rs772551710, rs34540312, rs764580616, rs2045696881, rs377050541, rs1385523658, rs752526626, rs3212364, rs372371887, rs2144391307, rs775239171, rs774456071, rs780347303, rs879937669, rs762670523, rs755031236, rs748972076, rs779680061, rs778831502, rs372852841, rs373241401, rs1310618630, rs541831292, rs373707533, rs587783376, rs2544609945, rs2544610519, rs374827260, rs1037285800, rs1396609141, rs990355156, rs980772251, rs760097588, rs1165997971, rs1434063620, rs34158934, rs776829551, rs2045689907, rs2544610616, rs2544609573, rs2544610255, rs767294514, rs2045690205, rs1805009, rs756579024, rs751133343, rs2544610848, rs149922657, rs2544608518, rs754442823, rs1212676023, rs776046156, rs1567758423, rs2045705739, rs748780226, rs2544608974, rs2544608538, rs2544609943, rs373344683, rs2544608667, rs2544610369, rs946271227, rs773631824, rs369674161, rs763647934, rs1216427920, rs775806791, rs1567758745, rs376425491, rs754971328, rs762846553, rs756738524, rs1216644651, rs765813858, rs769056179, rs33932559, rs1171269324, rs201533137, rs796296176, rs201192930, rs11547464, rs1110400, rs780813746, rs145781072, rs377580634, rs878854501, rs376780075, rs146544450, rs1376584583, rs3212365, rs885479, rs3212367, rs2228478, rs3212368, rs201326893, rs2045699927, rs1301300922, rs767905960, rs373044118, rs750618617, rs1044424142, rs3212366, rs2544610087, rs2544609736, rs1374244663, rs780773419, rs2228479, rs1805006, rs1805005, rs1805007, rs104894524, rs2544608888, rs35784916, rs2045699975, rs2544610324, rs2544609682, rs560412301, rs921577469, rs764964218, rs1234077928, rs2544609111, rs371618933, rs2045706903, rs754405679, rs1195733358, rs747608998, rs751594275, rs757840076, rs372152373, rs1340863788, rs200759505, rs1471818303, rs761041641, rs779655156, rs746774948, rs1597415336, rs967011934, rs2544610151, rs1555623887, rs886052491, rs886052492, rs3212357, rs886052496, rs886052498, rs3212379, rs886052500, rs34090186, rs201827012, rs780875127, rs773260532, rs776687782, rs558280878, rs3212371, rs569735993, rs866287374, rs886052494, rs552688125, rs557576978, rs555058897, rs540650422, rs886052505, rs369016553, rs749933929, rs369402699, rs181269865, rs375813196, rs3212370, rs573848209, rs886052509, rs764002798, rs886052511, rs3212354, rs3212355, rs536447537, rs886052495, rs3212358, rs886052499, rs3212361, rs76337330, rs3212363, rs148003355, rs886052502, rs34474212, rs375562624, rs546618600, rs201429598, rs376670171, rs200000734, rs200965363, rs34490506, rs143513600, rs886052493, rs530536156, rs776494974, rs886052497, rs868197501, rs372719558, rs3212359, rs368262324, rs3212362, rs575441534, rs577907985, rs886052503, rs201632257, rs140650544, rs199920775, rs756060136, rs151318945, rs3212369, rs886052508, rs886052510, rs886052512, rs200050206, rs1060504133, rs753749977, rs373957223, rs781549818, rs372041071, rs368745976, rs374959395, rs201171524, rs370441592, rs779504604, rs914341120, rs1555623739, rs1555623867, rs200051702, rs368507952, rs757162834, rs143395134, rs758135673, rs61996344, rs777024553, rs201489928, rs555179612, rs370040645, rs749525002, rs200215218, rs200616835, rs766933388, rs1555623833, rs373401179, rs925012763, rs1555623738, rs373224783, rs747777879, rs530102853, rs778370171, rs376692024, rs553516665, rs1567758442, rs755918287, rs772601310, rs1164849246, rs963182706, rs2229617, rs1217897117, rs574552620, rs762183931, rs750200309, rs1398171215, rs773094322, rs762063106, rs371156858, rs377411334, rs372929572, rs367985661, rs34564466, rs141177570, rs767278343, rs1597414901, rs374878766, rs566784469, rs373597800, rs1215576125, rs745994833, rs1362807899, rs780284801, rs760209791, rs750978167, rs370306913, rs554831935, rs1215465340, rs564999211, rs201787533, rs750319061, rs1484000912, rs201975178, rs771897011, rs781311501, rs767276470, rs12102534, rs762901370, rs1413138979, rs375127718, rs546542914, rs926761363, rs1597413824, rs866750144, rs370238443, rs990435149, rs992299827, rs58664942, rs563638700, rs900016691, rs531012890, rs1296656392, rs2045678427, rs2045679043, rs932918344, rs553184868, rs3212360, rs760702650, rs1324313530, rs375789795, rs776654211, rs773395822, rs376679503, rs2045690377, rs772286882, rs760458744, rs374235260, rs1260091224, rs749385653, rs2045702612, rs1264795610, rs763065230, rs373703770, rs373109025, rs938331667, rs545888975, rs551043523, rs2045712709, rs2045716853, rs765283788, rs559928561, rs777400906, rs761210287, rs752618291, rs1271566138, rs2045689133, rs373341896, rs368714912, rs760466103, rs765016133, rs2045691961, rs772969877, rs2045688422, rs527673999, rs202197434, rs2045707558, rs762096175, rs769200898, rs527697723, rs748521098, rs752932359, rs1360082988, rs2045708038	RCV001316714 RCV001313042 RCV001317063 RCV001318148 RCV001319926 RCV001317747 RCV001340191 RCV001340456 RCV001342501 RCV001342930 RCV001361342 RCV001370537 RCV001404555 RCV001409429 RCV001400564 RCV001405892 RCV001448445 RCV001449149 RCV001427759 RCV001467731 RCV001468780 RCV001475146 RCV001460763 RCV001481220 RCV001490916 RCV001506621 RCV001521515 RCV001522836 RCV002072959 RCV002073013 RCV001962122 RCV001997288 RCV001913757 RCV001922058 RCV002004939 RCV001998579 RCV001865063 RCV001889142 RCV001928180 RCV001999193 RCV001908324 RCV001933045 RCV001900096 RCV002013034 RCV001882056 RCV001891081 RCV001930845 RCV001958250 RCV002042892 RCV001979889 RCV001976121 RCV002006184 RCV001910636 RCV001884883 RCV002014485 RCV001946134 RCV001947533 RCV001867349 RCV001922587 RCV001933569 RCV002017735 RCV001938859 RCV001936560 RCV001896845 RCV002043190 RCV001925479 RCV001906028 RCV002017057 RCV001907094 RCV002006479 RCV001935919 RCV001955767 RCV002010449 RCV001944340 RCV001946370 RCV001984984 RCV001955157 RCV002010026 RCV001963599 RCV001916466 RCV002088150 RCV002142020 RCV002168484 RCV002205645 RCV002103314 RCV002134552 RCV002102409 RCV002218008 RCV002132573 RCV002145867 RCV002138344 RCV002104121 RCV002114690 RCV002157287 RCV002173739 RCV002153051 RCV002121158 RCV002160370 RCV002120277 RCV002097447 RCV002105785 RCV000707635 RCV003050543 RCV003064911 RCV003058513 RCV003051251 RCV003067103 RCV003066427 RCV003075707 RCV003075849 RCV003075992 RCV003091267 RCV002585312 RCV003086811 RCV003092695 RCV002605869 RCV002619887 RCV002603378 RCV002633388 RCV002633489 RCV002629572 RCV002634190 RCV002629258 RCV003116039 RCV003115732 RCV003114156 RCV002574161 RCV002569656 RCV002649565 RCV002657992 RCV002726050 RCV002710854 RCV002800636 RCV002766617 RCV002771087 RCV002842070 RCV002870861 RCV002833387 RCV002856363 RCV002881098 RCV002890920 RCV002908842 RCV002894899 RCV002886412 RCV002917228 RCV002943253 RCV002953804 RCV002953509 RCV002933937 RCV002982771 RCV002996482 RCV002995817 RCV002994841 RCV003034245 RCV003019744 RCV000490361 RCV003629242 RCV000228327 RCV000230113 RCV000233716 RCV000227554 RCV001081128 RCV000234103 RCV000229064 RCV000231910 RCV000234771 RCV000232311 RCV000226151 RCV003514616 RCV000463850 RCV000263355 RCV001512030 RCV000457546 RCV000394014 RCV000360143 RCV000470714 RCV003515306 RCV003513842 RCV003514079 RCV003514103 RCV003516206 RCV003516208 RCV003514150 RCV003516401 RCV003515135 RCV003515123 RCV003515124 RCV003515774 RCV003515216 RCV003515218 RCV003515262 RCV001080639 RCV000278283 RCV000015380 RCV000276119 RCV000472249 RCV001851872 RCV003629319 RCV003630153 RCV003630324 RCV003630574 RCV003630606 RCV003630909 RCV003630937 RCV003628707 RCV003628849 RCV003628733 RCV003628931 RCV003628920 RCV003628995 RCV003628950 RCV003629015 RCV003629048 RCV003629767 RCV003629812 RCV003629715 RCV003629775 RCV003629955 RCV003629836 RCV003630050 RCV003630051 RCV003630040 RCV003828772 RCV003828864 RCV003836858 RCV003829823 RCV003843997 RCV003854522 RCV003862178 RCV003869978 RCV003878484 RCV000318074 RCV000323755 RCV000296786 RCV000351584 RCV000338373 RCV000359513 RCV000327521 RCV001080560 RCV000475378 RCV000474083 RCV000626151 RCV000688228 RCV000293723 RCV000336895 RCV000375194 RCV000378477 RCV000290718 RCV000345622 RCV000298738 RCV000272416 RCV000387626 RCV000348335 RCV000400111 RCV000308100 RCV000284794 RCV003514349 RCV001081702 RCV000860924 RCV000359206 RCV000325481 RCV000333558 RCV000385675 RCV000335573 RCV000354264 RCV000259255 RCV000265249 RCV000381829 RCV000397461 RCV000353613 RCV000333164 RCV000293419 RCV000406277 RCV000305603 RCV000397311 RCV001088138 RCV000870725 RCV000689907 RCV000462773 RCV000473808 RCV000461696 RCV000476253 RCV000647344 RCV000539784 RCV000276170 RCV000321270 RCV000385169 RCV000397469 RCV000311545 RCV000268398 RCV000304816 RCV000381996 RCV000268891 RCV000375302 RCV000335746 RCV000341817 RCV000302066 RCV001071290 RCV000333479 RCV000863309 RCV000647351 RCV000384364 RCV001082549 RCV000301971 RCV000382463 RCV000278218 RCV000402593 RCV000467503 RCV000471167 RCV000458547 RCV000469051 RCV000470959 RCV001471893 RCV000463066 RCV000461620 RCV000464878 RCV000475197 RCV000456425 RCV000463188 RCV001081026 RCV000764093 RCV000647345 RCV000529931 RCV000549194 RCV000531473 RCV000552416 RCV000558265 RCV000559368 RCV000551588 RCV000545433 RCV000546805 RCV001452826 RCV000557168 RCV000550231 RCV000526662 RCV000527730 RCV000538438 RCV000555316 RCV000532822 RCV000647348 RCV000647349 RCV000647343 RCV000647350 RCV000647346 RCV000647347 RCV002530596 RCV001855403 RCV000691446 RCV000695007 RCV000695672 RCV000686875 RCV000698468 RCV000706074 RCV000695096 RCV000695368 RCV000704191 RCV000704517 RCV000689293 RCV000806692 RCV000821923 RCV000810656 RCV000803548 RCV000799393 RCV000800147 RCV000810962 RCV000795997 RCV000810896 RCV000814815 RCV000815450 RCV002064458 RCV001082982 RCV000863091 RCV000862824 RCV000862142 RCV000863026 RCV001408987 RCV001486070 RCV001444788 RCV001470071 RCV002539029 RCV000869663 RCV000868983 RCV001405901 RCV001405439 RCV001417385 RCV001443481 RCV003629143 RCV001464420 RCV001412714 RCV002611845 RCV001035943 RCV001055701 RCV001051581 RCV001063041 RCV001062047 RCV001042411 RCV001048667 RCV001035581 RCV001066438 RCV001061594 RCV001043895 RCV001043219 RCV001066004 RCV001067485 RCV001068942 RCV001050742 RCV001115738 RCV001117168 RCV001118797 RCV001118798 RCV001118799 RCV001118800 RCV001120758 RCV001120759 RCV001120760 RCV001115820 RCV001115821 RCV001115822 RCV001115823 RCV001117258 RCV001117259 RCV001118892 RCV001118893 RCV001120854 RCV001120855 RCV001115921 RCV001115922 RCV001115923 RCV001115924 RCV001117379 RCV001117380 RCV001118991 RCV001120964 RCV001120965 RCV001116039 RCV001116040 RCV001119088 RCV001119089 RCV001121052 RCV001121053 RCV001121054 RCV001116148 RCV001117581 RCV001117582 RCV001117583 RCV001119183 RCV001119184 RCV001121177 RCV001121178 RCV001116256 RCV001116257 RCV001216004 RCV001219217 RCV001214538 RCV001224531 RCV001203109 RCV001208045 RCV001210590 RCV001211146 RCV001204319 RCV001207565 RCV001235960 RCV001225592 RCV001231132 RCV001227007 RCV001241106 RCV001244564 RCV001246476 RCV001243564 RCV001305767 RCV001308959 RCV001307702 RCV001306469 RCV001305628 RCV001299110 RCV001302236 RCV001296847
Skin/hair/eye pigmentation 2, blond hair/fair skin	Benign; Likely benign	rs2228479, rs1805005	RCV000015379 RCV000015384
Skin/hair/eye pigmentation 2, red hair/fair skin	Conflicting classifications of pathogenicity; risk factor; Benign	rs1805009, rs2228479, rs1805007	RCV000015377 RCV000015378 RCV000015385
UV-induced skin damage, susceptibility to	risk factor; Uncertain significance	rs1310082996, rs104894524, rs104894523	RCV000015389 RCV000015390 RCV000015391

Associations from Text Mining
Disease Name	Relationship Type	References
ABCD syndrome	Associate	22965007
Albinism	Associate	21541274, 35488210
Albinism Oculocutaneous	Associate	12876664, 21052032
Alzheimer Disease	Associate	24742402, 28059796
Anxiety	Associate	19571053, 35301265
Basal Cell Nevus Syndrome	Associate	25159867
Burns	Associate	25858289
Carcinoma Basal Cell	Associate	11179997, 11254446, 16645598, 21700618, 22158557, 25159867, 25858289, 26103569
Carcinoma Squamous Cell	Associate	11179997, 11254446, 22797298, 24238329, 24742402, 26103569, 27424798, 29054604, 29405243
Color Vision Defects	Associate	24000325
Colorectal Neoplasms	Associate	32375704, 34698109, 35484177, 36356413
Death	Associate	22325793
Depressive Disorder	Associate	21052032, 35301265
Depressive Disorder Major	Associate	21052032, 35955479
Diabetes Mellitus Type 2	Associate	35955479
Dyschromatosis universalis hereditaria	Associate	28382689
Epidermal Nevus	Associate	22965007, 35701387
Essential Tremor	Associate	30252209
Facial Pain	Associate	27555332
Glucocorticoid Deficiency 2	Associate	22337906
Head and Neck Neoplasms	Associate	20721616, 23096702
Heart Defects Congenital	Associate	28947386
Huntington Disease	Associate	24742402
Hutchinson's Melanotic Freckle	Associate	23647022
Hyperpigmentation	Associate	22337906, 28382689, 28947386
Hypopigmentation	Associate	21541274
Inflammation	Associate	12177778, 17228030, 21052032, 25898835, 29968341
Keratosis Actinic	Associate	27646882
Lentigo	Associate	29898205
Leukemia Myeloid	Associate	12177778
Melanocytic nevus syndrome congenital	Associate	10465111
Melanoma	Associate	10536983, 11179997, 11500805, 11500806, 11511307, 11833005, 12177778, 16417234, 16601669, 17611626, 18025365, 18368129, 18454494, 18510673, 18787543, 18795926, 18803811, 19578364, 19799798, 20467398, 20519635, 20721616, 20876876, 21052032, 21559390, 21983785, 22011200, 22095472, 22325793, 22464597, 22797298, 22965007, 22978401, 23096702, 23360207, 23384855, 23393597, 23647022, 23908401, 24134749, 24588892, 24742402, 24884915, 24917043, 24982914, 25003831, 25382380, 25790105, 25794181, 25980496, 26168232, 26349638, 27131830, 27403562, 27683220, 27755135, 27776349, 27993549, 28094871, 28146043, 28746718, 28842324, 29061376, 29246956, 29317335, 29583157, 29801061, 29890168, 29898205, 29968341, 30252209, 30414346, 30872112, 31016712, 31437847, 31488411, 31630191, 32455486, 32773237, 32898390, 34689017, 34698109, 35357426, 35552458, 35701387, 36879448, 37762683, 37958811, 9699720
Melanoma Amelanotic	Associate	28746718
Melanoma Cutaneous Malignant	Associate	10465111, 10631149, 11254446, 11511307, 14612910, 16601669, 18510673, 18761657, 18803811, 19710684, 22095472, 22325793, 22464597, 22978401, 23096702, 24238329, 24588892, 24742402, 24917043, 27403562, 32898390
Melanosis	Associate	25410285, 29190509, 31400656
Metrorrhagia	Associate	25705849, 32835660
Microsatellite Instability	Associate	34698109
Neoplasms	Associate	16417234, 16645598, 22325793, 25790105, 28081215, 29317335, 34698109
Neoplasms Basal Cell	Associate	31437847
Neoplastic Cells Circulating	Associate	36499015
Neurodegenerative Diseases	Associate	24742402, 28947386
Nevus	Associate	22095472, 22797298, 24134749, 25410285
Nevus Pigmented	Associate	18795926, 22464597, 22572819, 22797298, 32323445
Obesity	Stimulate	17228030
Obesity	Associate	27394708
Oculocutaneous albinism type 2	Associate	12876664
Pain	Associate	19571053, 27555332, 34924555
Pain Insensitivity Congenital	Associate	21052032
Parkinson Disease	Associate	19194882, 24742402, 27131830, 30252209
Pathophobia	Associate	27555332
Piebaldism	Associate	24000325
Pigmentation Disorders	Associate	11179997, 11833005, 17130136, 18510673, 19452503, 19578364, 20467398, 20519635, 20876876, 21270109, 22797298, 23647022, 23860522, 24134749, 24588892, 24917043, 24982914, 25790105, 26103569, 26657157, 26938746, 27646882, 28030792, 28746718, 29890168, 31488411, 32350296, 33609553, 9665397
Prostatic Neoplasms	Associate	11720436, 23860522, 29518100
Simpson Golabi Behmel syndrome	Associate	27394708
Skin Diseases	Associate	11179997, 29898205, 34326492
Skin Hair Eye Pigmentation Variation In 5	Associate	9665397
Skin Neoplasms	Associate	11254446, 17130136, 18402696, 18510673, 19452503, 21700618, 22862891, 24134749, 24742402, 25705849, 26103569, 26702765, 28030792, 29968341, 31437847, 32350296, 34326492, 34455851, 35845857, 38546209, 9665397
Smoke Inhalation Injury	Associate	21787368
Stomatognathic Diseases	Associate	19571053, 27555332
Sunburn	Associate	22464597, 29898205
Urticaria Solar	Associate	11179997
Vitiligo	Associate	33757175, 33790887, 35411132