WDR53 (WD repeat domain 53)

Gene

• Entrez ID: 348793
• Gene name: WD repeat domain 53
• Gene symbol: WDR53
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3q29
• Summary: This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047121	hsa-miR-183-5p	CLASH	23622248
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT614258	hsa-miR-302e	HITS-CLIP	23313552
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT614254	hsa-miR-520b	HITS-CLIP	23313552
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT614251	hsa-miR-520e	HITS-CLIP	23313552
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT614246	hsa-miR-520h	HITS-CLIP	23313552
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT614241	hsa-miR-1913	HITS-CLIP	23313552
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT694327	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT614258	hsa-miR-302e	HITS-CLIP	23824327
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT614254	hsa-miR-520b	HITS-CLIP	23824327
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT614251	hsa-miR-520e	HITS-CLIP	23824327
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT614248	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT614246	hsa-miR-520h	HITS-CLIP	23824327
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT614241	hsa-miR-1913	HITS-CLIP	23824327
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT614233	hsa-miR-5095	HITS-CLIP	23824327
MIRT614232	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT614231	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT614258	hsa-miR-302e	HITS-CLIP	23824327
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT614254	hsa-miR-520b	HITS-CLIP	23824327
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT614251	hsa-miR-520e	HITS-CLIP	23824327
MIRT614250	hsa-miR-4438	HITS-CLIP	23824327
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT614248	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT614246	hsa-miR-520h	HITS-CLIP	23824327
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT614241	hsa-miR-1913	HITS-CLIP	23824327
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT614233	hsa-miR-5095	HITS-CLIP	23824327
MIRT614232	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT614231	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT614258	hsa-miR-302e	HITS-CLIP	23313552
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT614254	hsa-miR-520b	HITS-CLIP	23313552
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT614251	hsa-miR-520e	HITS-CLIP	23313552
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT614246	hsa-miR-520h	HITS-CLIP	23313552
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT614241	hsa-miR-1913	HITS-CLIP	23313552
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT694327	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT614258	hsa-miR-302e	HITS-CLIP	23824327
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT614254	hsa-miR-520b	HITS-CLIP	23824327
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT614251	hsa-miR-520e	HITS-CLIP	23824327
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT614248	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT614246	hsa-miR-520h	HITS-CLIP	23824327
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT614241	hsa-miR-1913	HITS-CLIP	23824327
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT614233	hsa-miR-5095	HITS-CLIP	23824327
MIRT614232	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT614231	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT614270	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT614269	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT614268	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT614267	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT614266	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT614265	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT614264	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT614263	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT614262	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT614261	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT614260	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT614259	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT614258	hsa-miR-302e	HITS-CLIP	23824327
MIRT614257	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT614256	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT614255	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT614254	hsa-miR-520b	HITS-CLIP	23824327
MIRT614253	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT614252	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT614251	hsa-miR-520e	HITS-CLIP	23824327
MIRT614250	hsa-miR-4438	HITS-CLIP	23824327
MIRT614249	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT614248	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT614247	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT614246	hsa-miR-520h	HITS-CLIP	23824327
MIRT614245	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT614244	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT614243	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT614242	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT614241	hsa-miR-1913	HITS-CLIP	23824327
MIRT614240	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT614239	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT614238	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT614237	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT614236	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT614235	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT614234	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT614233	hsa-miR-5095	HITS-CLIP	23824327
MIRT614232	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT614231	hsa-miR-5089-5p	HITS-CLIP	23824327

Other IDs

• MIM: 615110
• HGNC: 28786
• e!Ensembl: ENSG00000185798

Protein

• UniProt ID: Q7Z5U6
• Protein name: WD repeat-containing protein 53
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12894	ANAPC4_WD40	69 → 166	Anaphase-promoting complex subunit 4 WD40 domain	Repeat
  PF00400	WD40	230 → 269	WD domain, G-beta repeat	Repeat

• Sequence:

  MAVKWTGGHSSPVLCLNASKEGLLASGAEGGDLTAWGEDGTPLGHTRFQGADDVTSVLFS
  PSCPTKLYASHGETISVLDVRSLKDSLDHFHVNEEEINCLSLNQTENLLASADDSGAIKI
  LDLENKKVIRSLKRHSNICSSVAFRPQRPQSLVSCGLDMQVMLWSLQKARPLWITNLQED
  ETEEMEGPQSPGQLLNPALAHSISVASCGNIFSCGAEDGKVRIFRVMGVKCEQELGFKGH
  TSGVSQVCFLPESYLLLTGGNDGKITLWDANSEVEKKQKSPTKRTHRKKPKRGTCTKQGG
  NTNASVTDEEEHGNILPKLNIEHGEKVNWLLGTKIKGHQNILVADQTSCISVYPLNEF

• Sequence length: 358

Associated diseases

Causal
Disease term	Disease name	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