INF2 (inverted formin 2)

Gene

• Entrez ID: 64423
• Gene name: Inverted formin 2
• Gene symbol: INF2
• Synonyms: C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201715539	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs267606877	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606878	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606879	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606880	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607183	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907034	T>C	Pathogenic	Coding sequence variant, missense variant
rs387907035	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387907036	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387907037	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907038	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs530391015	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs539256832	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs746964937	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs912928648	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1317776692	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555373363	T>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555373368	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555373599	GCCCTGGAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1566777417	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1566777560	G>A	Pathogenic	Missense variant, coding sequence variant
rs1566778512	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566778651	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1566778676	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1595163730	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595166085	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022208	hsa-miR-124-3p	Microarray	18668037
MIRT031476	hsa-miR-16-5p	Proteomics	18668040
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT1066215	hsa-miR-4650-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066222	hsa-miR-219-5p	CLIP-seq
MIRT1066223	hsa-miR-3150b-3p	CLIP-seq
MIRT1066224	hsa-miR-4689	CLIP-seq
MIRT1066225	hsa-miR-4760-5p	CLIP-seq
MIRT1066226	hsa-miR-4782-3p	CLIP-seq
MIRT1066227	hsa-miR-4784	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT2015830	hsa-miR-1205	CLIP-seq
MIRT2015831	hsa-miR-1207-3p	CLIP-seq
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT2015832	hsa-miR-124	CLIP-seq
MIRT2015833	hsa-miR-1267	CLIP-seq
MIRT2015834	hsa-miR-1291	CLIP-seq
MIRT2015835	hsa-miR-1909	CLIP-seq
MIRT2015836	hsa-miR-2467-3p	CLIP-seq
MIRT2015837	hsa-miR-296-5p	CLIP-seq
MIRT2015838	hsa-miR-3127-5p	CLIP-seq
MIRT2015839	hsa-miR-3145-5p	CLIP-seq
MIRT2015840	hsa-miR-3192	CLIP-seq
MIRT2015841	hsa-miR-328	CLIP-seq
MIRT2015842	hsa-miR-34a	CLIP-seq
MIRT2015843	hsa-miR-34c-5p	CLIP-seq
MIRT2015844	hsa-miR-3622a-5p	CLIP-seq
MIRT2015845	hsa-miR-3652	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2015848	hsa-miR-3714	CLIP-seq
MIRT2015849	hsa-miR-3910	CLIP-seq
MIRT2015850	hsa-miR-3926	CLIP-seq
MIRT2015851	hsa-miR-4286	CLIP-seq
MIRT2015852	hsa-miR-4430	CLIP-seq
MIRT2015853	hsa-miR-4436b-3p	CLIP-seq
MIRT2015854	hsa-miR-4455	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2015856	hsa-miR-4480	CLIP-seq
MIRT2015857	hsa-miR-4492	CLIP-seq
MIRT2015858	hsa-miR-4498	CLIP-seq
MIRT2015859	hsa-miR-449a	CLIP-seq
MIRT2015860	hsa-miR-449b	CLIP-seq
MIRT2015861	hsa-miR-4505	CLIP-seq
MIRT2015862	hsa-miR-4638-3p	CLIP-seq
MIRT2015863	hsa-miR-4640-5p	CLIP-seq
MIRT2015864	hsa-miR-4652-3p	CLIP-seq
MIRT2015865	hsa-miR-4691-3p	CLIP-seq
MIRT2015866	hsa-miR-4707-5p	CLIP-seq
MIRT2015867	hsa-miR-4726-5p	CLIP-seq
MIRT2015868	hsa-miR-4728-5p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2015870	hsa-miR-506	CLIP-seq
MIRT2015871	hsa-miR-545	CLIP-seq
MIRT2015872	hsa-miR-548an	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT2015873	hsa-miR-548s	CLIP-seq
MIRT2015874	hsa-miR-550a	CLIP-seq
MIRT2015875	hsa-miR-555	CLIP-seq
MIRT2015876	hsa-miR-564	CLIP-seq
MIRT2015877	hsa-miR-659	CLIP-seq
MIRT2015878	hsa-miR-665	CLIP-seq
MIRT2015879	hsa-miR-762	CLIP-seq
MIRT2015880	hsa-miR-885-3p	CLIP-seq
MIRT2248323	hsa-miR-1271	CLIP-seq
MIRT2248324	hsa-miR-141	CLIP-seq
MIRT2248325	hsa-miR-182	CLIP-seq
MIRT2248326	hsa-miR-200a	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2248332	hsa-miR-4670-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248334	hsa-miR-562	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2248337	hsa-miR-96	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2551903	hsa-miR-3176	CLIP-seq
MIRT2551904	hsa-miR-3189-3p	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2551905	hsa-miR-3922-3p	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2551906	hsa-miR-4300	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2551907	hsa-miR-4716-3p	CLIP-seq
MIRT2551908	hsa-miR-4722-5p	CLIP-seq
MIRT2551909	hsa-miR-4723-5p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2551910	hsa-miR-920	CLIP-seq
MIRT2551911	hsa-miR-939	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20023659
GO:0090140	Process	Regulation of mitochondrial fission	IMP	23349293

Other IDs

• MIM: 610982
• HGNC: 23791
• e!Ensembl: ENSG00000203485

Protein

• UniProt ID: Q27J81
• Protein name: Inverted formin-2 (HBEBP2-binding protein C)
• Protein function: Severs actin filaments and accelerates their polymerization and depolymerization.
• PDB: 8RV2, 9AZ4, 9AZP, 9AZQ, 9B03, 9B0K, 9FJN, 9FJW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06371	Drf_GBD	5 → 152	Diaphanous GTPase-binding Domain	Family
  PF06367	Drf_FH3	156 → 341	Diaphanous FH3 Domain	Family
  PF02181	FH2	554 → 921	Formin Homology 2 Domain	Family
  PF02205	WH2	974 → 991	WH2 motif	Family

• Sequence:

  MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGS
  DGGWMVQFLEQSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILS
  NQGYVRQLSQALDTSNVMVKKQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSI
  VMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQLLDVLARLRDLEDAD
  LLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
  LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSV
  QANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST
  PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPL
  PGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVA
  QVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
  SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIR
  AGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIEC
  MLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNYGSHTGDADGF
  KISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA
  SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
  AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPV
  RKGPGKQEEVCVIDALLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPA
  GDPVGSTRCPASEPGLDATTASESRGWDLVDAVTPGPQPTLEQLEEGGPRPLERRSSWYV
  DASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAGSSRQDAKDPTSLLGV
  LQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
  SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ

• Sequence length: 1249

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Charcot-marie-tooth disease	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	22187985, 27974406, 24174593, 24750328, 25165188, 25676889
Focal segmental glomerulosclerosis	Focal Segmental Glomerulosclerosis 5, Focal Segmental Glomerulosclerosis, Not Otherwise Specified	rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818	25165188, 22971997, 22187985, 20023659, 21866090, 23014460, 27974406, 21258034, 25165188
Hypertension	Hypertensive disease	rs13306026, rs13333226
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease name	Disease term	dbSNP ID	References
Distal lower limb amyotrophy	Distal lower limb amyotrophy
Distal upper limb amyotrophy	Distal upper limb amyotrophy
Genetic steroid-resistant nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome
Glomerular hyalinosis	Hyalinosis, Segmental Glomerular		20023659
Glomerulosclerosis	Focal glomerulosclerosis		20023659, 25165188
Hypertensive nephropathy	hypertensive nephropathy
Kidney failure	Kidney Failure		25165188
Nephritis	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE		20023659
Renal glomerular disease	Renal glomerular disease