PALLD (palladin, cytoskeletal associated protein)

Gene

• Entrez ID: 23022
• Gene name: Palladin, cytoskeletal associated protein
• Gene symbol: PALLD
• Synonyms (NCBI Gene): CGI-151, CGI151, MYN, PNCA1, SIH002
• Chromosome: 4
• Chromosome location: 4q32.3
• Summary: This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908291	C>T	Risk-factor, uncertain-significance, benign	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs139375029	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant
rs140454899	A>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs587780760	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs753092219	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020550	hsa-miR-155-5p	Proteomics	18668040
MIRT022312	hsa-miR-124-3p	Microarray	18668037
MIRT030662	hsa-miR-21-5p	Microarray	18591254
MIRT031101	hsa-miR-19b-3p	Sequencing	20371350
MIRT048248	hsa-miR-196a-5p	CLASH	23622248
MIRT724502	hsa-miR-4694-5p	HITS-CLIP	19536157
MIRT724501	hsa-miR-4775	HITS-CLIP	19536157
MIRT649759	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT649758	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649757	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT649756	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649755	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649754	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT649753	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT649752	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT649751	hsa-miR-4279	HITS-CLIP	23824327
MIRT649750	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT649749	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT531957	hsa-miR-6758-5p	PAR-CLIP	22012620
MIRT531956	hsa-miR-6856-5p	PAR-CLIP	22012620
MIRT531955	hsa-miR-4717-5p	PAR-CLIP	22012620
MIRT531954	hsa-miR-610	PAR-CLIP	22012620
MIRT531953	hsa-miR-6869-5p	PAR-CLIP	22012620
MIRT440053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT724502	hsa-miR-4694-5p	HITS-CLIP	19536157
MIRT724501	hsa-miR-4775	HITS-CLIP	19536157
MIRT649759	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT649758	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT649757	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT649756	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT649755	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT649754	hsa-miR-656-5p	HITS-CLIP	23824327
MIRT649753	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT649752	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT649751	hsa-miR-4279	HITS-CLIP	23824327
MIRT649750	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT649749	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT531957	hsa-miR-6758-5p	PAR-CLIP	22012620
MIRT531956	hsa-miR-6856-5p	PAR-CLIP	22012620
MIRT531955	hsa-miR-4717-5p	PAR-CLIP	22012620
MIRT531954	hsa-miR-610	PAR-CLIP	22012620
MIRT531953	hsa-miR-6869-5p	PAR-CLIP	22012620
MIRT1211692	hsa-miR-1	CLIP-seq
MIRT1211693	hsa-miR-1279	CLIP-seq
MIRT1211694	hsa-miR-1293	CLIP-seq
MIRT1211695	hsa-miR-206	CLIP-seq
MIRT1211696	hsa-miR-2116	CLIP-seq
MIRT1211697	hsa-miR-25	CLIP-seq
MIRT1211698	hsa-miR-3160-5p	CLIP-seq
MIRT1211699	hsa-miR-3163	CLIP-seq
MIRT1211700	hsa-miR-3190	CLIP-seq
MIRT1211701	hsa-miR-32	CLIP-seq
MIRT1211702	hsa-miR-320a	CLIP-seq
MIRT1211703	hsa-miR-320b	CLIP-seq
MIRT1211704	hsa-miR-320c	CLIP-seq
MIRT1211705	hsa-miR-320d	CLIP-seq
MIRT1211706	hsa-miR-342-5p	CLIP-seq
MIRT1211707	hsa-miR-34b	CLIP-seq
MIRT1211708	hsa-miR-3545-3p	CLIP-seq
MIRT1211709	hsa-miR-3607-5p	CLIP-seq
MIRT1211710	hsa-miR-3614-5p	CLIP-seq
MIRT1211711	hsa-miR-363	CLIP-seq
MIRT1211712	hsa-miR-367	CLIP-seq
MIRT1211713	hsa-miR-3673	CLIP-seq
MIRT1211714	hsa-miR-4282	CLIP-seq
MIRT1211715	hsa-miR-4325	CLIP-seq
MIRT1211716	hsa-miR-4429	CLIP-seq
MIRT1211717	hsa-miR-4483	CLIP-seq
MIRT1211718	hsa-miR-4651	CLIP-seq
MIRT1211719	hsa-miR-4652-3p	CLIP-seq
MIRT1211720	hsa-miR-4664-5p	CLIP-seq
MIRT1211721	hsa-miR-4666-5p	CLIP-seq
MIRT1211722	hsa-miR-4672	CLIP-seq
MIRT1211723	hsa-miR-4677-5p	CLIP-seq
MIRT1211724	hsa-miR-4718	CLIP-seq
MIRT1211725	hsa-miR-4793-5p	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT1211728	hsa-miR-600	CLIP-seq
MIRT1211729	hsa-miR-608	CLIP-seq
MIRT1211730	hsa-miR-613	CLIP-seq
MIRT1211731	hsa-miR-659	CLIP-seq
MIRT1211732	hsa-miR-92a	CLIP-seq
MIRT1211733	hsa-miR-92b	CLIP-seq
MIRT1211734	hsa-miR-340	CLIP-seq
MIRT1211735	hsa-miR-3613-3p	CLIP-seq
MIRT1211736	hsa-miR-3974	CLIP-seq
MIRT1211737	hsa-miR-545	CLIP-seq
MIRT1211738	hsa-miR-548p	CLIP-seq
MIRT1552015	hsa-miR-186	CLIP-seq
MIRT1211696	hsa-miR-2116	CLIP-seq
MIRT1552016	hsa-miR-3133	CLIP-seq
MIRT1552017	hsa-miR-338-5p	CLIP-seq
MIRT1211734	hsa-miR-340	CLIP-seq
MIRT1552018	hsa-miR-4643	CLIP-seq
MIRT1552019	hsa-miR-466	CLIP-seq
MIRT1552020	hsa-miR-4666-3p	CLIP-seq
MIRT1211723	hsa-miR-4677-5p	CLIP-seq
MIRT1552021	hsa-miR-4789-3p	CLIP-seq
MIRT1552022	hsa-miR-4795-3p	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT1552023	hsa-miR-570	CLIP-seq
MIRT1211728	hsa-miR-600	CLIP-seq
MIRT2060770	hsa-miR-182	CLIP-seq
MIRT2289410	hsa-miR-1226	CLIP-seq
MIRT2289411	hsa-miR-124	CLIP-seq
MIRT2289412	hsa-miR-1250	CLIP-seq
MIRT2289413	hsa-miR-1256	CLIP-seq
MIRT2289414	hsa-miR-1271	CLIP-seq
MIRT2289415	hsa-miR-1290	CLIP-seq
MIRT2289416	hsa-miR-153	CLIP-seq
MIRT2060770	hsa-miR-182	CLIP-seq
MIRT2289417	hsa-miR-217	CLIP-seq
MIRT2289418	hsa-miR-221	CLIP-seq
MIRT2289419	hsa-miR-222	CLIP-seq
MIRT2289420	hsa-miR-224	CLIP-seq
MIRT2289421	hsa-miR-28-3p	CLIP-seq
MIRT2289422	hsa-miR-31	CLIP-seq
MIRT2289423	hsa-miR-3120-3p	CLIP-seq
MIRT1211699	hsa-miR-3163	CLIP-seq
MIRT2289424	hsa-miR-3167	CLIP-seq
MIRT2289425	hsa-miR-323-3p	CLIP-seq
MIRT1211707	hsa-miR-34b	CLIP-seq
MIRT1211735	hsa-miR-3613-3p	CLIP-seq
MIRT2289426	hsa-miR-3617	CLIP-seq
MIRT2289427	hsa-miR-3674	CLIP-seq
MIRT2289428	hsa-miR-369-3p	CLIP-seq
MIRT2289429	hsa-miR-374c	CLIP-seq
MIRT2289430	hsa-miR-377	CLIP-seq
MIRT2289431	hsa-miR-3907	CLIP-seq
MIRT2289432	hsa-miR-3935	CLIP-seq
MIRT2289433	hsa-miR-4274	CLIP-seq
MIRT1211714	hsa-miR-4282	CLIP-seq
MIRT2289434	hsa-miR-4438	CLIP-seq
MIRT2289435	hsa-miR-4642	CLIP-seq
MIRT2289436	hsa-miR-4699-3p	CLIP-seq
MIRT2289437	hsa-miR-4703-3p	CLIP-seq
MIRT2289438	hsa-miR-4715-3p	CLIP-seq
MIRT2289439	hsa-miR-4727-5p	CLIP-seq
MIRT2289440	hsa-miR-4742-5p	CLIP-seq
MIRT2289441	hsa-miR-4769-3p	CLIP-seq
MIRT2289442	hsa-miR-4773	CLIP-seq
MIRT2289443	hsa-miR-4783-3p	CLIP-seq
MIRT2289444	hsa-miR-506	CLIP-seq
MIRT2289445	hsa-miR-5095	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT2289446	hsa-miR-532-5p	CLIP-seq
MIRT2289447	hsa-miR-548v	CLIP-seq
MIRT2289448	hsa-miR-577	CLIP-seq
MIRT2289449	hsa-miR-586	CLIP-seq
MIRT2289450	hsa-miR-605	CLIP-seq
MIRT2289451	hsa-miR-634	CLIP-seq
MIRT2289452	hsa-miR-641	CLIP-seq
MIRT2289453	hsa-miR-655	CLIP-seq
MIRT2289454	hsa-miR-876-5p	CLIP-seq
MIRT2289455	hsa-miR-890	CLIP-seq
MIRT2289456	hsa-miR-96	CLIP-seq
MIRT2392060	hsa-miR-1236	CLIP-seq
MIRT1211693	hsa-miR-1279	CLIP-seq
MIRT1211697	hsa-miR-25	CLIP-seq
MIRT2392061	hsa-miR-3120-5p	CLIP-seq
MIRT1211701	hsa-miR-32	CLIP-seq
MIRT1211710	hsa-miR-3614-5p	CLIP-seq
MIRT1211711	hsa-miR-363	CLIP-seq
MIRT1211712	hsa-miR-367	CLIP-seq
MIRT1211715	hsa-miR-4325	CLIP-seq
MIRT2392062	hsa-miR-4659a-3p	CLIP-seq
MIRT2392063	hsa-miR-4659b-3p	CLIP-seq
MIRT2392064	hsa-miR-4778-3p	CLIP-seq
MIRT1211725	hsa-miR-4793-5p	CLIP-seq
MIRT1211731	hsa-miR-659	CLIP-seq
MIRT1211732	hsa-miR-92a	CLIP-seq
MIRT1211733	hsa-miR-92b	CLIP-seq
MIRT2289410	hsa-miR-1226	CLIP-seq
MIRT2289411	hsa-miR-124	CLIP-seq
MIRT2431840	hsa-miR-1278	CLIP-seq
MIRT2431841	hsa-miR-142-5p	CLIP-seq
MIRT1211696	hsa-miR-2116	CLIP-seq
MIRT2431842	hsa-miR-219-2-3p	CLIP-seq
MIRT2431843	hsa-miR-2964a-3p	CLIP-seq
MIRT2431844	hsa-miR-3065-3p	CLIP-seq
MIRT2431845	hsa-miR-3155	CLIP-seq
MIRT2431846	hsa-miR-3155b	CLIP-seq
MIRT1211699	hsa-miR-3163	CLIP-seq
MIRT1552017	hsa-miR-338-5p	CLIP-seq
MIRT1211734	hsa-miR-340	CLIP-seq
MIRT1211735	hsa-miR-3613-3p	CLIP-seq
MIRT2289427	hsa-miR-3674	CLIP-seq
MIRT2431847	hsa-miR-3688-5p	CLIP-seq
MIRT2289428	hsa-miR-369-3p	CLIP-seq
MIRT2431848	hsa-miR-3908	CLIP-seq
MIRT2289432	hsa-miR-3935	CLIP-seq
MIRT2431849	hsa-miR-3942-5p	CLIP-seq
MIRT2431850	hsa-miR-3973	CLIP-seq
MIRT2431851	hsa-miR-3976	CLIP-seq
MIRT2431852	hsa-miR-4264	CLIP-seq
MIRT2289433	hsa-miR-4274	CLIP-seq
MIRT2431853	hsa-miR-4276	CLIP-seq
MIRT1211714	hsa-miR-4282	CLIP-seq
MIRT2431854	hsa-miR-4302	CLIP-seq
MIRT2431855	hsa-miR-4307	CLIP-seq
MIRT2431856	hsa-miR-4470	CLIP-seq
MIRT2431857	hsa-miR-4484	CLIP-seq
MIRT1552020	hsa-miR-4666-3p	CLIP-seq
MIRT2431858	hsa-miR-4668-3p	CLIP-seq
MIRT1211722	hsa-miR-4672	CLIP-seq
MIRT1211723	hsa-miR-4677-5p	CLIP-seq
MIRT2431859	hsa-miR-4687-3p	CLIP-seq
MIRT2431860	hsa-miR-4703-5p	CLIP-seq
MIRT2431861	hsa-miR-4712-3p	CLIP-seq
MIRT2289439	hsa-miR-4727-5p	CLIP-seq
MIRT2431862	hsa-miR-4766-3p	CLIP-seq
MIRT1552022	hsa-miR-4795-3p	CLIP-seq
MIRT2431863	hsa-miR-484	CLIP-seq
MIRT2289444	hsa-miR-506	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT2431864	hsa-miR-544	CLIP-seq
MIRT2431865	hsa-miR-548an	CLIP-seq
MIRT2431866	hsa-miR-548m	CLIP-seq
MIRT2431867	hsa-miR-567	CLIP-seq
MIRT2289448	hsa-miR-577	CLIP-seq
MIRT2431868	hsa-miR-581	CLIP-seq
MIRT2289449	hsa-miR-586	CLIP-seq
MIRT2431869	hsa-miR-587	CLIP-seq
MIRT1211728	hsa-miR-600	CLIP-seq
MIRT2431870	hsa-miR-622	CLIP-seq
MIRT2289451	hsa-miR-634	CLIP-seq
MIRT2431871	hsa-miR-656	CLIP-seq
MIRT2431872	hsa-miR-892a	CLIP-seq
MIRT2431873	hsa-miR-944	CLIP-seq
MIRT2289412	hsa-miR-1250	CLIP-seq
MIRT1211696	hsa-miR-2116	CLIP-seq
MIRT1211702	hsa-miR-320a	CLIP-seq
MIRT1211703	hsa-miR-320b	CLIP-seq
MIRT1211704	hsa-miR-320c	CLIP-seq
MIRT1211705	hsa-miR-320d	CLIP-seq
MIRT1211707	hsa-miR-34b	CLIP-seq
MIRT1211709	hsa-miR-3607-5p	CLIP-seq
MIRT2289431	hsa-miR-3907	CLIP-seq
MIRT1211716	hsa-miR-4429	CLIP-seq
MIRT1211721	hsa-miR-4666-5p	CLIP-seq
MIRT1211723	hsa-miR-4677-5p	CLIP-seq
MIRT2289438	hsa-miR-4715-3p	CLIP-seq
MIRT1211724	hsa-miR-4718	CLIP-seq
MIRT2289443	hsa-miR-4783-3p	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT1211728	hsa-miR-600	CLIP-seq
MIRT2289412	hsa-miR-1250	CLIP-seq
MIRT2687035	hsa-miR-140-3p	CLIP-seq
MIRT1211696	hsa-miR-2116	CLIP-seq
MIRT1211702	hsa-miR-320a	CLIP-seq
MIRT1211703	hsa-miR-320b	CLIP-seq
MIRT1211704	hsa-miR-320c	CLIP-seq
MIRT1211705	hsa-miR-320d	CLIP-seq
MIRT1211707	hsa-miR-34b	CLIP-seq
MIRT2289431	hsa-miR-3907	CLIP-seq
MIRT1211716	hsa-miR-4429	CLIP-seq
MIRT1211723	hsa-miR-4677-5p	CLIP-seq
MIRT2289438	hsa-miR-4715-3p	CLIP-seq
MIRT1211724	hsa-miR-4718	CLIP-seq
MIRT2687036	hsa-miR-4729	CLIP-seq
MIRT2289443	hsa-miR-4783-3p	CLIP-seq
MIRT1211726	hsa-miR-520d-5p	CLIP-seq
MIRT1211727	hsa-miR-524-5p	CLIP-seq
MIRT2687037	hsa-miR-579	CLIP-seq
MIRT2687038	hsa-miR-590-3p	CLIP-seq
MIRT1211728	hsa-miR-600	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IDA	11598191
GO:0001725	Component	Stress fiber	IEA
GO:0001726	Component	Ruffle	IEA
GO:0002102	Component	Podosome	IEA
GO:0003334	Process	Keratinocyte development	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11598191, 16125169, 17537434, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	11598191
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	11598191
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IDA	17322171
GO:0005925	Component	Focal adhesion	IEA
GO:0007010	Process	Cytoskeleton organization	NAS	11598191
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016477	Process	Cell migration	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	16125169
GO:0030018	Component	Z disc	IEA
GO:0030027	Component	Lamellipodium	IDA	17537434
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030426	Component	Growth cone	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	TAS	16125169
GO:0060076	Component	Excitatory synapse	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

Other IDs

• MIM: 608092
• HGNC: 17068
• e!Ensembl: ENSG00000129116

Protein

• UniProt ID: Q8WX93
• Protein name: Palladin (SIH002) (Sarcoma antigen NY-SAR-77)
• Protein function: Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding mole
• PDB: 2DM2, 2DM3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	271 → 361	Immunoglobulin I-set domain	Domain
  PF07679	I-set	441 → 538	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1001 → 1092	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1135 → 1225	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1234 → 1325	Immunoglobulin I-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in both muscle and non-muscle tissues. High expression in prostate, ovary, colon, and kidney. Not detected in spleen, skeletal muscle, lung and peripheral blood lymphocytes (at protein level). Protein is overexpressed in FA6,
• Sequence:

  MSGTSSHESFYDSLSDMQEESKNTDFFPGLSAFLSQEEINKSLDLARRAIADSETEDFDS
  EKEISQIFSTSPASLCEHPSHKETKLGEHASRRPQDNRSTPVQPLAEKQTKSISSPVSKR
  KPAMSPLLTRPSYIRSLRKAEKRGAKTPSTNVKPKTPHQRKGGPQSQLCDKAANLIEELT
  SIFKAAKPRNRSPNGESSSPDSGYLSPKNQPSALLSASASQSPMEDQGEMEREVKSPGAR
  HCYQDNQDLAVPHNRKSHPQPHSALHFPAAPRFIQKLRSQEVAEGSRVYLECRVTGNPTP
  RVRWFCEGKELHNTPDIQIHCEGGDLHTLIIAEAFEDDTGRYTCLATNPSGSDTTSAEVF
  IEGASSTDSDSESLAFKSRAGAMPQAQKKTTSVSLTIGSSSPKTGVTTAVIQPLSVPVQQ
  VHSPTSYLCRPDGTTTAYFPPVFTKELQNTAVAEGQVVVLECRVRGAPPLQVQWFRQGSE
  IQDSPDFRILQKKPRSTAEPEEICTLVIAETFPEDAGIFTCSARNDYGSATSTAQLVVTS
  ANTENCSYESMGESNNDHFQHFPPPPPILETSSLELASKKPSEIQQVNNPELGLSRAALQ
  MQFNAAERETNGVHPSRGVNGLINGKANSNKSLPTPAVLLSPTKEPPPLLAKPKLDPLKL
  QQLQNQIRLEQEAGARQPPPAPRSAPPSPPFPPPPAFPELAACTPPASPEPMSALASRSA
  PAMQSSGSFNYARPKQFIAAQNLGPASGHGTPASSPSSSSLPSPMSPTPRQFGRAPVPPF
  AQPFGAEPEAPWGSSSPSPPPPPPPVFSPTAAFPVPDVFPLPPPPPPLPSPGQASHCSSP
  ATRFGHSQTPAAFLSALLPSQPPPAAVNALGLPKGVTPAGFPKKASRTARIASDEEIQGT
  KDAVIQDLERKLRFKEDLLNNGQPRLTYEERMARRLLGADSATVFNIQEPEEETANQEYK
  VSSCEQRLISEIEYRLERSPVDESGDEVQYGDVPVENGMAPFFEMKLKHYKIFEGMPVTF
  TCRVAGNPKPKIYWFKDGKQISPKSDHYTIQRDLDGTCSLHTTASTLDDDGNYTIMAANP
  QGRISCTGRLMVQAVNQRGRSPRSPSGHPHVRRPRSRSRDSGDENEPIQERFFRPHFLQA
  PGDLTVQEGKLCRMDCKVSGLPTPDLSWQLDGKPVRPDSAHKMLVRENGVHSLIIEPVTS
  RDAGIYTCIATNRAGQNSFSLELVVAAKEAHKPPVFIEKLQNTGVADGYPVRLECRVLGV
  PPPQIFWKKENESLTHSTDRVSMHQDNHGYICLLIQGATKEDAGWYTVSAKNEAGIVSCT
  ARLDVYTQWHQQSQSTKPKKVRPSASRYAALSDQGLDIKAAFQPEANPSHLTLNTALVES
  EDL

• Sequence length: 1383

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs7691375, rs10010909, rs112116419	RCV005918551 RCV005920409 RCV005897785
Carcinoma of pancreas	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886059208, rs548068667, rs1363457314, rs398064261, rs71719276, rs796761323, rs1553986519, rs886059211, rs28364802	RCV000269757 RCV000315803 RCV000315023 RCV000389268 RCV000335736 RCV000324866 RCV000303576 RCV000385204 RCV000350998 RCV000289470 RCV000278358
Cervical cancer	Uncertain significance; Benign; Likely benign	rs761530979, rs1760003825, rs112116419	RCV005893597 RCV005927123 RCV005897786
Cholangiocarcinoma	Benign	rs1059444	RCV005897784
Clear cell carcinoma of kidney	Uncertain significance	rs149631023	RCV005909053
Colorectal cancer	Benign	rs1059444	RCV005897782
Familial cancer of breast	Benign	rs190608408	RCV005926174
Familial pancreatic carcinoma	Benign	rs7691375	RCV005918553
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs7691375, rs138897963, rs112116419	RCV005918554 RCV005887930 RCV005897788
Hepatocellular carcinoma	Benign	rs7691375	RCV005918552
Hereditary cancer-predisposing syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs960430324, rs372582436, rs139375029, rs1412288218, rs375219239, rs536545858, rs2531590716, rs1208821236, rs754137504, rs749527043, rs147463221, rs145026144, rs757071884, rs116614719, rs549591072, rs544491953, rs1233750183, rs1303362124, rs202095635, rs746066225, rs767187687, rs775730191, rs372708613, rs757164572, rs376732578, rs1271164196	RCV003169803 RCV002390256 RCV002415595 RCV002323104 RCV002330049 RCV000160879 RCV002335955 RCV002378103 RCV002376174 RCV002401467 RCV002383736 RCV002392520 RCV002406049 RCV002455668 RCV002421656 RCV002430880 RCV002430683 RCV002455797 RCV002428675 RCV002440170 RCV003377944 RCV002365415 RCV002424594 RCV003169007 RCV003163334 RCV002436832
Lung cancer	Benign	rs7691375	RCV005918557
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	rs761874862, rs1059444	RCV005927124 RCV005897781
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs190608408, rs370602081	RCV005926175 RCV005889639
Malignant tumor of urinary bladder	Uncertain significance	rs370466913	RCV005931879
Melanoma	Benign; Likely benign	rs112116419	RCV005897789
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs7691375, rs115607645	RCV005918555 RCV005897780
PALLD-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs755470870, rs779615947, rs1002022068, rs149239490, rs150711066, rs145571230, rs115372194, rs373113485, rs146387060, rs114946738, rs146018183, rs138897963, rs550499593, rs114593924, rs587780757, rs368890611, rs370768506, rs121908291, rs1580934238, rs184419827, rs114877850, rs59633770, rs149663929, rs776450294, rs1247208951, rs140415820, rs144807771, rs115481700, rs745457441, rs569927452, rs775218291, rs367564484, rs1784848604, rs746962804, rs1209607829, rs758706279, rs863224385, rs769161509, rs114250766, rs113515140, rs864622140, rs730882137, rs756024689, rs878854265, rs750792344, rs778911643, rs768538351, rs2534253547, rs1486128001, rs1356716314, rs1246739715, rs1751991299, rs1200653889, rs116158771, rs58395080, rs17054482, rs2531656501, rs1353803515, rs943155016, rs371200706, rs2531854054, rs143717202, rs200020758, rs568490721, rs372708613, rs1025237623, rs1211489449, rs756934356, rs189385916, rs143682790	RCV003946004 RCV003938814 RCV004751996 RCV003900769 RCV004751271 RCV003905104 RCV003915129 RCV003407504 RCV003905105 RCV003905106 RCV003925120 RCV003952560 RCV003952630 RCV003952631 RCV003925221 RCV003905178 RCV004752095 RCV003894786 RCV004731265 RCV003960997 RCV003943367 RCV003965182 RCV003933758 RCV003943383 RCV003408255 RCV003933769 RCV003971275 RCV003896171 RCV004750736 RCV003943394 RCV003971289 RCV003933775 RCV003943395 RCV003403827 RCV003926395 RCV003947653 RCV003927853 RCV003895266 RCV003955200 RCV003947654 RCV003417739 RCV003927875 RCV003963775 RCV003977653 RCV003900976 RCV003946454 RCV003420588 RCV003396952 RCV003395739 RCV003417110 RCV003405999 RCV003414283 RCV003980980 RCV003902342 RCV003983027 RCV003972470 RCV003982756 RCV003892236 RCV003977159 RCV003899343 RCV003951841 RCV003954724 RCV003944342 RCV003972797 RCV003960102 RCV003952886 RCV003420218 RCV004751764 RCV003975420 RCV003405249 RCV003938516 RCV003938503
Pancreatic adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1751995307, rs1434151476, rs748894104, rs1009236606, rs979242789, rs1407253197, rs1755762387, rs749391847, rs370652817, rs367575623, rs1761546367, rs771679229, rs1751989521, rs587780753, rs1752033511, rs1161219308, rs748729107, rs1752080178, rs969187093, rs753140123, rs764564619, rs144380526, rs1431975703, rs372470150, rs1171944020, rs201412478, rs755470870, rs1314886283, rs1762577012, rs1032243256, rs2151116162, rs1752027354, rs987780445, rs1050591975, rs899774397, rs960430324, rs2151424408, rs2126493927, rs1761523394, rs753881003, rs754236496, rs569054006, rs2126617157, rs752730979, rs1252109828, rs1752038882, rs1240958245, rs1232895995, rs535155432, rs554297134, rs763225090, rs2151120642, rs774706421, rs561075148, rs2151407453, rs150256686, rs1314232427, rs1752028956, rs532961259, rs374250410, rs931772731, rs1257537496, rs1761518453, rs1445122482, rs748161189, rs1304987799, rs773814059, rs778134231, rs1405467936, rs2151120978, rs2151217538, rs772737020, rs1347888847, rs1306143762, rs533269596, rs566543059, rs1484758238, rs2126572022, rs779615947, rs987749164, rs2151117841, rs1002022068, rs1374341509, rs961514057, rs1431878477, rs1002500543, rs12510359, rs149239490, rs139375029, rs587780197, rs587780198, rs587780200, rs374741161, rs368806050, rs370602081, rs1452134652, rs1264657310, rs753316618, rs1255873290, rs1464837952, rs369054918, rs950480850, rs1043636321, rs113676921, rs1490808015, rs758408204, rs1219099309, rs2151119973, rs1350140320, rs2151117365, rs1752078843, rs114171764, rs2151424394, rs550499593, rs143544548, rs587780754, rs587780755, rs587780756, rs114593924, rs587780757, rs587780758, rs587780759, rs543821321, rs587780760, rs587780761, rs368350042, rs368890611, rs200060953, rs559000839, rs587780762, rs142116575, rs150764613, rs2151408223, rs755336512, rs1324020366, rs775439441, rs766621175, rs1313429903, rs2151263543, rs1201131054, rs190961769, rs1162490423, rs745362518, rs760392120, rs2126617547, rs370768506, rs1470434769, rs1757058174, rs1202242941, rs1290110172, rs1582242284, rs1010581356, rs766796340, rs1279652646, rs141155457, rs1048578217, rs771536528, rs755556663, rs114673468, rs1201472346, rs375970126, rs2151115353, rs2126617465, rs2126495446, rs1281589180, rs1160463247, rs1337504036, rs1221751077, rs1461519731, rs2151116805, rs2126617192, rs2151120162, rs1031710807, rs1389047255, rs757791701, rs1752110315, rs774078101, rs2151118113, rs1279362848, rs2151306705, rs2126616657, rs2151407394, rs2151217010, rs1178801747, rs1442067136, rs1231114395, rs1424841441, rs2151264658, rs781313666, rs2151193953, rs1355423115, rs765144938, rs1335231320, rs190608408, rs1762578631, rs796831946, rs1752030193, rs977479187, rs896702235, rs754444061, rs369747738, rs757114919, rs952079408, rs2151424618, rs1346040206, rs2126494210, rs1385998898, rs200328911, rs934779804, rs2126589237, rs121908291, rs758090588, rs1275663812, rs2533440217, rs765135925, rs775271720, rs1762303043, rs1762303963, rs1172864337, rs1162970866, rs760996154, rs767636400, rs62333013, rs59633770, rs2533586705, rs1553969553, rs1755775639, rs2533736461, rs1755800407, rs1197603175, rs780764400, rs2534044036, rs2533638730, rs544491953, rs863224382, rs758884211, rs1754074834, rs1223364195, rs745941762, rs1488088422, rs1457037554, rs923093903, rs763900244, rs1403623266, rs757307011, rs746066225, rs769077416, rs754402562, rs775868002, rs2534250586, rs759105985, rs535118290, rs1754743835, rs2533434649, rs2534196934, rs2151116962, rs1279381875, rs950069781, rs2533444302, rs1329675171, rs2533441754, rs958031030, rs1490106949, rs931051658, rs756544732, rs1760000762, rs1321443615, rs1201279284, rs940061939, rs1173076751, rs1032107869, rs764754301, rs932803535, rs2533735211, rs1759584470, rs752801252, rs1752077603, rs2533433926, rs2533431927, rs1474742744, rs1444264117, rs1319139870, rs2533438135, rs1190604236, rs1229622917, rs1762566831, rs1279403017, rs115988233, rs2533436494, rs1333174219, rs1730308771, rs748648194, rs1388506993, rs2534079772, rs1426131648, rs1751992534, rs878854267, rs746871182, rs1752085380, rs1483951042, rs376867553, rs528879194, rs863224705, rs758706279, rs780516159, rs863224383, rs863224384, rs777359545, rs863224385, rs570874237, rs863224386, rs753092219, rs769161509, rs143417961, rs140360991, rs201707558, rs863224702, rs754158038, rs761530979, rs780692056, rs863224703, rs114250766, rs113515140, rs863224704, rs1271956834, rs960816675, rs2534295918, rs1429082856, rs878854264, rs1418527331, rs2533637399, rs2533588794, rs888513189, rs2533730908, rs2534267763, rs561750970, rs864622627, rs864622590, rs864622422, rs864622140, rs730882137, rs864622087, rs864622226, rs864622591, rs864622321, rs864622158, rs864622531, rs767729090, rs749041581, rs768485147, rs864622234, rs864622355, rs864622316, rs864622388, rs764242515, rs746599370, rs551131343, rs878854265, rs878854266, rs878854268, rs376654786, rs373500403, rs376394488, rs776143139, rs2534252693, rs2534079590, rs2533587566, rs1453954870, rs2534196262, rs1200653889, rs2533638003, rs907897412, rs1041611510, rs1752070374, rs2151117389, rs1430600488, rs1176572401, rs980570701, rs568768082, rs2533837009, rs1208573536, rs2534295799, rs1292447736, rs2533432152, rs61051061, rs1806729, rs548068667, rs2533841006, rs781516286, rs2533638530, rs745655806, rs2534254323, rs1755797976, rs1164236507, rs2534044427, rs778471055, rs1059444, rs750112132, rs7673220, rs2534296238, rs2534266657, rs2533586570, rs2533432727, rs752296365, rs2533445619, rs2533445631, rs1259061725, rs2533837808, rs2533439549, rs1037038771, rs1441282633, rs2533737806, rs1754062858, rs2534191498, rs2534250049, rs1015571748, rs2533436880, rs925028358, rs1355223507, rs1754718721, rs777057820, rs1482790033, rs764562462, rs2534249923, rs2533730218, rs1474373660, rs1212940455, rs2534195165, rs2534078139, rs1332395286, rs767260072, rs1436428000, rs1762579601, rs2534266744, rs1560839415, rs2151117518, rs2534080110, rs1023738670, rs1560838137, rs1762302330, rs1060502975, rs925242863, rs143717202, rs372414187, rs927644209, rs764265611, rs1060502976, rs997146277, rs1060502974, rs1060504775, rs200020758, rs1060502973, rs777453756, rs952110792, rs1553965295, rs1553973196, rs1177108180, rs1477864263, rs368472947, rs182571219, rs1553984987, rs1263751006, rs201979617, rs1358006173, rs151071844, rs115937217, rs568490721, rs189021816, rs1319983866, rs1553965480, rs1385898569, rs1553965526, rs1553968628, rs763802548, rs1553965214, rs1474793366, rs1553965326, rs778313832, rs1318598425, rs755223646, rs557697540, rs747702421, rs1560940853, rs1560839872, rs1216822754, rs751364707, rs372708613, rs1560929667, rs1306250811, rs774034818, rs551420048, rs1581871066, rs1220928329, rs759161069, rs757164572, rs115274645, rs769973229, rs767384375, rs778210310, rs1305250587, rs1239099971, rs1025237623, rs1211489449, rs900642927, rs1400689367, rs140584890, rs757885388, rs996343137, rs1275232115, rs1046350904, rs762267147, rs373066707, rs867266337, rs1460784357, rs748432333, rs769517051, rs1560937938, rs750033888, rs781065277, rs1751999027, rs1246689760, rs1752077261, rs1754079127, rs1754736103, rs1757056910, rs756934356, rs1176026649, rs1762161869, rs200399043, rs1447433925, rs1389221540, rs893660432, rs1762582426, rs772889018, rs371498362, rs957770223, rs1560840468, rs149631023, rs1271164196, rs1761543823, rs1762171174, rs1582249226, rs577454433, rs1048547337, rs1476099718, rs1209607829, rs1752078030, rs1291430290, rs1190472798, rs762353255, rs1762165732, rs1751989868, rs1752004838, rs1343996300, rs1311193979, rs1244776142, rs1446406744, rs1298095064, rs746329925, rs1380474191, rs774568391	RCV001325352 RCV001322394 RCV001322179 RCV001326289 RCV001315855 RCV001313284 RCV001327339 RCV001313062 RCV001323682 RCV001321186 RCV001314396 RCV001317781 RCV001345294 RCV001343481 RCV001344738 RCV001349856 RCV001339353 RCV001342769 RCV001349354 RCV001352288 RCV001348034 RCV001351444 RCV001341456 RCV001350870 RCV001344226 RCV001351329 RCV001342644 RCV001343122 RCV001347595 RCV001345231 RCV001369993 RCV001372904 RCV001372314 RCV001365430 RCV001366138 RCV001361603 RCV001369123 RCV001372752 RCV001370110 RCV001373548 RCV001370569 RCV001359033 RCV001372320 RCV001398449 RCV001410814 RCV001396041 RCV001418786 RCV001419306 RCV001403538 RCV001419505 RCV001413428 RCV001414116 RCV001413105 RCV001401418 RCV001412747 RCV001403180 RCV001439026 RCV001435008 RCV001434011 RCV001434992 RCV001423285 RCV001422508 RCV001446912 RCV001430207 RCV001435470 RCV001439859 RCV001438514 RCV001426899 RCV001451559 RCV001452390 RCV001457478 RCV001473402 RCV001454755 RCV001472820 RCV001463895 RCV001461667 RCV001457711 RCV001461568 RCV001453291 RCV001503183 RCV001486140 RCV001479029 RCV001497459 RCV001483262 RCV001495981 RCV001491725 RCV001492232 RCV001510107 RCV001520676 RCV001517098 RCV001083897 RCV000205580 RCV001854560 RCV000531519 RCV001339599 RCV001053240 RCV001939855 RCV001866280 RCV001920469 RCV002038729 RCV001891561 RCV001957772 RCV001919181 RCV001904275 RCV001993718 RCV001084926 RCV001886698 RCV002019553 RCV001886806 RCV001981289 RCV001969617 RCV001966859 RCV001992732 RCV002043997 RCV001902456 RCV000123160 RCV000123161 RCV000123162 RCV000123163 RCV000123164 RCV000206324 RCV000123166 RCV000123167 RCV000123168 RCV000123169 RCV000123170 RCV001083802 RCV000123172 RCV001079639 RCV000123174 RCV000123175 RCV000123176 RCV001083018 RCV000123178 RCV000123179 RCV001083259 RCV000123181 RCV001976303 RCV001947272 RCV001882082 RCV001957114 RCV001926160 RCV001946139 RCV001977712 RCV002006621 RCV001926636 RCV001887875 RCV001913887 RCV001916234 RCV001946551 RCV001887591 RCV001874855 RCV001964654 RCV002025261 RCV002037183 RCV002037991 RCV002050788 RCV001871401 RCV001925881 RCV001880716 RCV001880727 RCV002014042 RCV002014127 RCV001879539 RCV001911931 RCV001948444 RCV001907591 RCV001906463 RCV002051031 RCV001912049 RCV001901507 RCV002044770 RCV001934884 RCV002003676 RCV001944305 RCV001960064 RCV002001518 RCV001895149 RCV001895212 RCV001942544 RCV001988442 RCV001937890 RCV001909375 RCV001986355 RCV001979299 RCV001981117 RCV002151089 RCV002183271 RCV002219697 RCV002182899 RCV002178638 RCV002123959 RCV002141493 RCV002213358 RCV002104812 RCV002191797 RCV002138188 RCV002173956 RCV002120499 RCV002184983 RCV002090473 RCV002160830 RCV002091462 RCV002168753 RCV002148872 RCV002087455 RCV002178793 RCV002121439 RCV002205245 RCV002139371 RCV002197319 RCV002139769 RCV002182017 RCV002177890 RCV002197111 RCV002114502 RCV002169620 RCV002129472 RCV000168440 RCV002304663 RCV002301995 RCV002296713 RCV003099319 RCV003102320 RCV003585249 RCV003585250 RCV003099369 RCV003585253 RCV003099211 RCV003099225 RCV003099333 RCV000547431 RCV000204944 RCV003100979 RCV003746644 RCV003585271 RCV003746645 RCV003775229 RCV003101897 RCV003585274 RCV003102062 RCV003585270 RCV003775268 RCV003585273 RCV005098210 RCV005097885 RCV003585269 RCV003775106 RCV003098721 RCV003585272 RCV003101126 RCV005098067 RCV003102192 RCV005098350 RCV005098353 RCV003585277 RCV003102856 RCV003102843 RCV005058854 RCV000168348 RCV000168277 RCV000168268 RCV003037165 RCV003066691 RCV003058718 RCV003058769 RCV003058776 RCV003079824 RCV003090867 RCV003069692 RCV003072995 RCV003079683 RCV003093207 RCV002588672 RCV002636635 RCV002603064 RCV002592070 RCV002611874 RCV002625121 RCV002651414 RCV002633114 RCV002637685 RCV002612246 RCV002624697 RCV002644190 RCV002629262 RCV002629397 RCV003110910 RCV003117133 RCV002594056 RCV002613865 RCV002634934 RCV002654302 RCV002735084 RCV002685998 RCV002681664 RCV002691029 RCV002790187 RCV002766686 RCV002790143 RCV002806803 RCV002838857 RCV002881668 RCV002886690 RCV002903756 RCV002952444 RCV002947946 RCV002928135 RCV002952847 RCV002957296 RCV002961948 RCV002948417 RCV000197834 RCV000196326 RCV000196136 RCV000197950 RCV000199978 RCV000196732 RCV000198297 RCV000200513 RCV000195528 RCV002515457 RCV001086219 RCV001465295 RCV000199930 RCV000198039 RCV000199919 RCV000199356 RCV000200565 RCV001424160 RCV000196940 RCV000198832 RCV000196073 RCV000199612 RCV000197648 RCV000199118 RCV002953617 RCV002948002 RCV002928831 RCV002962165 RCV003001902 RCV002968109 RCV003014084 RCV003031115 RCV003014783 RCV003036168 RCV003048546 RCV000204304 RCV000205931 RCV001436211 RCV000205380 RCV000206720 RCV000204114 RCV000206416 RCV001516271 RCV000206208 RCV001453315 RCV001466188 RCV000206697 RCV000205155 RCV000205872 RCV000206121 RCV000204710 RCV000204680 RCV000205622 RCV000205097 RCV000204482 RCV000205898 RCV000206157 RCV001500484 RCV000226381 RCV000229224 RCV001434441 RCV000227055 RCV000229906 RCV000232764 RCV000227731 RCV000226280 RCV000230245 RCV000231402 RCV003778970 RCV005101373 RCV005104234 RCV003585436 RCV003585585 RCV003585530 RCV003585555 RCV003585561 RCV003585563 RCV003585587 RCV003585608 RCV003584034 RCV003584055 RCV003584087 RCV003584032 RCV003584043 RCV003585602 RCV003584030 RCV003584041 RCV003584155 RCV003584151 RCV003584177 RCV003584267 RCV003584270 RCV003584233 RCV002520224 RCV002520225 RCV000700928 RCV003584328 RCV003746727 RCV003746740 RCV002057922 RCV003746735 RCV003746783 RCV003746849 RCV003746938 RCV003747036 RCV003746926 RCV003746901 RCV003746991 RCV000860256 RCV001226048 RCV002523467 RCV003747180 RCV003747203 RCV003747218 RCV003747307 RCV003746078 RCV003746017 RCV003746070 RCV003746038 RCV003746081 RCV003746118 RCV003746246 RCV003746242 RCV003746274 RCV003746394 RCV003746387 RCV003746404 RCV003746453 RCV003747515 RCV003747531 RCV003747512 RCV003747568 RCV003747578 RCV003747670 RCV003747652 RCV003747673 RCV003747676 RCV003814827 RCV003811004 RCV003821903 RCV003832890 RCV003835012 RCV003837211 RCV003833156 RCV003852763 RCV003863452 RCV003856925 RCV003857009 RCV003854951 RCV003867108 RCV003876218 RCV003879591 RCV003870403 RCV003878722 RCV003876736 RCV005100589 RCV000471084 RCV000474954 RCV000458107 RCV000468633 RCV001472301 RCV000463271 RCV000465884 RCV002063684 RCV000456395 RCV000470692 RCV000469577 RCV000464208 RCV000458524 RCV000457761 RCV000470091 RCV001445639 RCV001408157 RCV000534561 RCV000527878 RCV000538211 RCV000558235 RCV000551583 RCV000555487 RCV000544307 RCV000537608 RCV000533020 RCV000535774 RCV000540708 RCV000552177 RCV000545839 RCV000527996 RCV000545496 RCV000653483 RCV000653482 RCV000653480 RCV000653478 RCV000653484 RCV000653479 RCV000653471 RCV000653485 RCV000653473 RCV000653472 RCV000653475 RCV000653481 RCV000653477 RCV000653476 RCV000653474 RCV000703452 RCV000704436 RCV000694415 RCV000686406 RCV000701385 RCV000705045 RCV000707309 RCV000687569 RCV000703507 RCV000695641 RCV000698890 RCV000695714 RCV000819502 RCV000792995 RCV000807967 RCV000810794 RCV000820456 RCV000805652 RCV000822627 RCV000803091 RCV000794779 RCV000815300 RCV000816803 RCV001467902 RCV001480406 RCV000868586 RCV000870169 RCV001410318 RCV001479045 RCV000864749 RCV001478088 RCV001446548 RCV001410813 RCV000871643 RCV000874054 RCV001395305 RCV002539981 RCV002539100 RCV001396643 RCV000887824 RCV001398853 RCV001414878 RCV003102884 RCV001858877 RCV001070284 RCV001046721 RCV001034939 RCV001048177 RCV001042889 RCV001052752 RCV001034889 RCV001048556 RCV001041385 RCV001041330 RCV001068641 RCV001036773 RCV001058746 RCV001064251 RCV001066220 RCV002557181 RCV001209825 RCV001219479 RCV001224851 RCV001222010 RCV001217304 RCV001220966 RCV001221563 RCV001207053 RCV001212675 RCV001207249 RCV001207631 RCV001232412 RCV001225721 RCV001231892 RCV001230436 RCV001230276 RCV001228288 RCV001226144 RCV001230673 RCV001241025 RCV001301488 RCV001308110 RCV001302783 RCV001295205 RCV001307335 RCV001307477 RCV001302005 RCV001307259 RCV001296212 RCV001296723 RCV001304398
Pancreatic cancer, susceptibility to, 1	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs150711066, rs140454899, rs145571230, rs115372194, rs138283237, rs139375029, rs146387060, rs114946738, rs146018183, rs138897963, rs1255873290, rs113676921, rs114593924, rs587780757, rs535155432, rs587780760, rs368350042, rs200060953, rs142116575, rs1031710807, rs200145539, rs200093398, rs121908291, rs1348758631, rs114877850, rs2531433996, rs143268375, rs62333013, rs59633770, rs770328647, rs1781943093, rs147159943, rs140415820, rs116219738, rs761386762, rs923352111, rs1554032915, rs948639021, rs1784871346, rs544491953, rs202095635, rs764754301, rs528879194, rs863224383, rs753092219, rs140360991, rs114250766, rs113515140, rs863224704, rs1762580055, rs756698993, rs375246198, rs763814940, rs2533587935, rs368056641, rs886059207, rs2710836, rs372273201, rs61051061, rs201343910, rs1806729, rs377747204, rs149345491, rs62333891, rs201816881, rs150443035, rs112116419, rs769635594, rs777479051, rs150719521, rs116158771, rs199755853, rs58395080, rs781516286, rs76997292, rs28718025, rs148023504, rs886059215, rs184106989, rs1136603, rs115607645, rs775730191, rs1059444, rs750112132, rs542531106, rs113794451, rs886059212, rs114351964, rs539762995, rs1071738, rs886059217, rs145960760, rs540595354, rs571957605, rs7673220, rs72695199, rs886059209, rs17054482, rs886059210, rs773353973, rs575893643, rs886059214, rs186567215, rs886059216, rs886059220, rs886059221, rs7671781, rs7655494, rs372414187, rs189021816, rs1560929667, rs115274645, rs769973229, rs138665337, rs781065277, rs538959058, rs540285834, rs189011214, rs189385916, rs889514388, rs369178136, rs201038000, rs376732578, rs143682790, rs777197884, rs139434937, rs1762575507, rs770458533, rs1762581096, rs1490249027, rs141283998, rs1477916241, rs763283965, rs368684220, rs776908136, rs780510622, rs189427176, rs1784873065, rs772889018, rs371498362, rs575876255, rs748402946, rs972893704, rs939786378, rs185646548, rs976050795, rs765552955, rs192990293, rs962914167, rs548951283, rs1762604026, rs887513464	RCV000330846 RCV000277356 RCV000373110 RCV000374192 RCV000285841 RCV000397936 RCV000400101 RCV000359984 RCV000401033 RCV000271106 RCV005023395 RCV000398866 RCV000319186 RCV005235026 RCV005235027 RCV003315814 RCV003315815 RCV000310521 RCV000365201 RCV005023321 RCV002280005 RCV002280318 RCV000002681 RCV005025793 RCV005032242 RCV005025803 RCV000329451 RCV003315965 RCV000261555 RCV005025804 RCV005025811 RCV005025810 RCV005025809 RCV005397404 RCV005412407 RCV005025815 RCV005032262 RCV005032264 RCV005025820 RCV005025826 RCV005397428 RCV005034784 RCV003316096 RCV003316105 RCV003316095 RCV005396617 RCV000369325 RCV000286156 RCV005031747 RCV003315467 RCV005029927 RCV005036685 RCV005208203 RCV005036686 RCV005036765 RCV000358552 RCV000323708 RCV000293974 RCV000348927 RCV000389359 RCV000295176 RCV000394421 RCV000282412 RCV000332460 RCV000284380 RCV000397904 RCV000376121 RCV000339397 RCV000268581 RCV000384008 RCV000336218 RCV000319577 RCV000339615 RCV000354139 RCV000350510 RCV000396199 RCV000357157 RCV000360071 RCV000382024 RCV000271034 RCV000337469 RCV000367241 RCV000312336 RCV000277008 RCV000381767 RCV000347025 RCV000293190 RCV000299921 RCV000325058 RCV000385400 RCV000293432 RCV000396315 RCV000303785 RCV000382717 RCV000305338 RCV000306330 RCV000365678 RCV000278588 RCV000345422 RCV000334998 RCV000401967 RCV000264861 RCV000267723 RCV000328416 RCV000396316 RCV000300945 RCV001147463 RCV001147462 RCV003316620 RCV005027658 RCV005027874 RCV005029480 RCV005036225 RCV001145508 RCV005394607 RCV001148281 RCV001148282 RCV001148283 RCV001149845 RCV001149846 RCV001149847 RCV001149848 RCV001149849 RCV001145509 RCV001145510 RCV001147458 RCV001147459 RCV001147460 RCV001147461 RCV001147464 RCV001148390 RCV001148392 RCV001149952 RCV001149953 RCV001145617 RCV001145618 RCV001145729 RCV001145730 RCV001148500 RCV001148501 RCV001150070 RCV001150071 RCV001150072 RCV001150073 RCV001143947 RCV001145839 RCV001145840 RCV001148606 RCV001148607 RCV001150188 RCV001148391 RCV001149954
Sarcoma	Benign; Likely benign	rs10010909, rs113515140, rs112116419	RCV005920410 RCV005893576 RCV005897787
Thymoma	Benign	rs7691375, rs1059444	RCV005918556 RCV005897783
Thyroid cancer, nonmedullary, 1	Likely benign	rs533269596	RCV005925384
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs10010909, rs112116419	RCV005920411 RCV005897790

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	20471940
Breast Neoplasms	Inhibit	21050850
Carcinogenesis	Associate	21738681
Carcinoma Hepatocellular	Associate	37960718
Carcinoma Pancreatic Ductal	Associate	17404500, 27023252, 33764904
Carcinoma Renal Cell	Associate	21738681
Cardiomyopathies	Associate	32631246
Cardiomyopathy Restrictive	Associate	36174041
Colorectal Neoplasms	Associate	32859214
Coronary Disease	Associate	18073581
Dentin dysplasia sclerotic bones	Associate	17515952
Diabetes Mellitus Type 2	Associate	26915486
Dystonic Disorders	Associate	17194196
Encephalitis Tick Borne	Associate	31122248
Lung Neoplasms	Associate	36047666
Lymphoma	Associate	34166375
Neoplasms	Associate	17194196, 22291919, 23076142, 26200861, 27023252, 36047666
Nephrolithiasis	Associate	40664942
Non alcoholic Fatty Liver Disease	Associate	24785259
Obesity	Associate	23975165
Pancreatic Neoplasms	Associate	17194196, 17404500, 21925511, 23076142, 33764904
Pancreatitis	Associate	22291919
Precancerous Conditions	Associate	17194196
Stroke	Associate	32980981