SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)

Gene

• Entrez ID: 6687
• Gene name: SPG7 matrix AAA peptidase subunit, paraplegin
• Gene symbol: SPG7
• Synonyms: CAR, CMAR, PGN, SPG5C
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755320	C>T	Uncertain-significance, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547551	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547552	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs111475461	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs114135540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116319889	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant
rs121918357	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs121918358	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs138671904	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs141644720	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs141659620	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs149474131	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs149797758	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs151249432	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs267607085	G>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs368373840	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs369227537	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs372981030	A>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs535030441	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs562890289	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs568556987	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs745444834	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746053679	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs746099594	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs747503698	->T	Conflicting-interpretations-of-pathogenicity, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748255454	GCTGGTGGCCAAGGCCT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748309520	G>A	Pathogenic	Splice acceptor variant
rs748555510	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748600162	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752257333	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752623413	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs752989523	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs758702550	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs760818649	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs762795756	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs764791523	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766155407	TC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs768136171	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768595656	TT>C,T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768823392	GGCGGGAGA>-	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs772828460	AG>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs774774648	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, stop gained
rs775364547	CCCCCGGCTGTGGGAAGACGCTGCTGGCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs794726906	A>C,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs797046003	->T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224220	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs863224223	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs863224924	T>CCAAGTCTGTA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs864622094	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs864622507	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs878854606	GATTATCTGAAGGTG>-	Pathogenic, likely-pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs879253797	C>T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs879253798	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs912983346	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060503425	GG>AGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307874	GAGAGCGGCTGCGCACC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691968	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1217391623	G>-	Pathogenic	3 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1229749476	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1235945505	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1314660313	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1319347094	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1373388852	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1412575396	G>C,T	Likely-pathogenic	Splice donor variant
rs1555617559	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1567934754	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1597597437	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1597661607	TGG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665063	CAG>-	Likely-pathogenic, pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665080	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT739161	hsa-miR-1225-3p	HITS-CLIP	33718276
MIRT1383864	hsa-miR-1207-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT739160	hsa-miR-1233	CLIP-seq
MIRT1383866	hsa-miR-1266	CLIP-seq
MIRT1383867	hsa-miR-130a	CLIP-seq
MIRT1383868	hsa-miR-130b	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT1383870	hsa-miR-19a	CLIP-seq
MIRT1383871	hsa-miR-19b	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT1383873	hsa-miR-301a	CLIP-seq
MIRT1383874	hsa-miR-301b	CLIP-seq
MIRT1383875	hsa-miR-3666	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383877	hsa-miR-4295	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT1383879	hsa-miR-4518	CLIP-seq
MIRT1383880	hsa-miR-454	CLIP-seq
MIRT739159	hsa-miR-4687-5p	CLIP-seq
MIRT1383881	hsa-miR-4695-3p	CLIP-seq
MIRT1383882	hsa-miR-4765	CLIP-seq
MIRT1383883	hsa-miR-510	CLIP-seq
MIRT1383884	hsa-miR-519a	CLIP-seq
MIRT1383885	hsa-miR-519b-3p	CLIP-seq
MIRT1383886	hsa-miR-519c-3p	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383888	hsa-miR-1321	CLIP-seq
MIRT1383889	hsa-miR-1915	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383892	hsa-miR-3179	CLIP-seq
MIRT1383893	hsa-miR-4650-5p	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383895	hsa-miR-4726-3p	CLIP-seq
MIRT1383896	hsa-miR-4739	CLIP-seq
MIRT1383897	hsa-miR-4756-5p	CLIP-seq
MIRT1557087	hsa-miR-3135	CLIP-seq
MIRT1557088	hsa-miR-3612	CLIP-seq
MIRT1557089	hsa-miR-3689d	CLIP-seq
MIRT1557090	hsa-miR-4266	CLIP-seq
MIRT1557091	hsa-miR-4443	CLIP-seq
MIRT1557092	hsa-miR-4695-5p	CLIP-seq
MIRT1557093	hsa-miR-4779	CLIP-seq
MIRT1557094	hsa-miR-485-5p	CLIP-seq
MIRT1557095	hsa-miR-610	CLIP-seq
MIRT1557096	hsa-miR-650	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT2337589	hsa-miR-141	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337590	hsa-miR-200a	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2337592	hsa-miR-217	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT2337593	hsa-miR-324-5p	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2337597	hsa-miR-3910	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2337603	hsa-miR-634	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IDA
GO:0005515	Function	Protein binding	IPI	14623864, 16189514, 21516116, 25416956, 26387735, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	TAS	9635427
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005757	Component	Mitochondrial permeability transition pore complex	IDA	26387735
GO:0006508	Process	Proteolysis	TAS	9635427
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0007399	Process	Nervous system development	TAS	9635427
GO:0008053	Process	Mitochondrial fusion	IBA	21873635
GO:0008233	Function	Peptidase activity	TAS	9635427
GO:0008270	Function	Zinc ion binding	IEA
GO:0034982	Process	Mitochondrial protein processing	IBA	21873635
GO:0042407	Process	Cristae formation	IBA	21873635
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IMP	26387735
GO:0051082	Function	Unfolded protein binding	TAS	9635427
GO:0065003	Process	Protein-containing complex assembly	IBA	21873635
GO:1902686	Process	Mitochondrial outer membrane permeabilization involved in programmed cell death	IMP	26387735

Other IDs

• MIM: 602783
• HGNC: 11237
• e!Ensembl: ENSG00000197912

Protein

• UniProt ID: Q9UQ90
• Protein name: Mitochondrial inner membrane m-AAA protease component paraplegin (EC 3.4.24.-) (EC 3.6.-.-) (Cell matrix adhesion regulator) (Paraplegin) (Spastic paraplegia 7 protein)
• Protein function: Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, Pu
• PDB: 2QZ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06480	FtsH_ext	142 → 242	FtsH Extracellular	Family
  PF00004	AAA	345 → 479	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	506 → 547	AAA+ lid domain	Domain
  PF01434	Peptidase_M41	561 → 746	Peptidase family M41	Domain

• Sequence:

  MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRAL
  QSLQLRLLTPTFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKA
  PEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEV
  QRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
  IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDG
  KMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAK
  AVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT
  MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
  TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSV
  HTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRT
  NAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYS
  MVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
  NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEE
  TQQPPLGGEEPTWPK

• Sequence length: 795

Pathways

Reactome:

Processing of SMDT1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Lateral sclerosis	Lateral Sclerosis, Primary lateral sclerosis, Primary Lateral Sclerosis, Adult, 1	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	27123479
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896	26626314
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, Spastic Paraplegia Type 7	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	11549317, 28832565, 23065789, 28362824, 18563470, 29026558, 22571692, 25681447, 20186691, 27957547, 29057857, 18799786, 26756429, 9635427, 23733235, 21623769, 16534102, 23269439, 26626314, 26756429, 14985266, 27790088, 17646629, 25681447, 20186691, 22571692, 9635427, 25133958, 23812641, 25034272, 23733235, 27123479, 27604308, 18799786, 27217339, 16534102, 21623769, 27165006, 23269439, 18200586, 22964162, 11222789, 23065789, 26506339, 24466038, 24727571, 18563470, 17646629

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Cerebral cortical atrophy	Cerebral cortical atrophy
Cervical spinal cord atrophy	Cervical spinal cord atrophy
Dysarthria	Dysarthria		26626314
Dysphagia	Deglutition Disorders
Hydronephrosis	Hydronephrosis
Intervertebral disc degeneration	Intervertebral Disc Degeneration
Mitochondrial diseases	Mitochondrial Diseases		28812649
Movement disorders	Movement Disorders		28608987, 27217339, 22571692, 26374131, 22554690, 26671083, 26094131, 26260707, 27260292, 24731568, 22964162, 26626314, 27084228
Paraplegia	Paraplegia		11549317
Sensorimotor neuropathy	Sensorimotor neuropathy
Ataxia, spastic with optic atrophy and mental retardation	ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Specific learning disorder	Specific learning disability	rs1057519497
Spinal cord compression	Compression of spinal cord