FLVCR2 (FLVCR choline and putative heme transporter 2)

Gene

• Entrez ID: 55640
• Gene name: FLVCR choline and putative heme transporter 2
• Gene symbol: FLVCR2
• Synonyms: C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606822	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs267606823	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267606824	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606825	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs757778790	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs759469907	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780523767	T>C	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999221	hsa-miR-3942-5p	CLIP-seq
MIRT999222	hsa-miR-4307	CLIP-seq
MIRT999223	hsa-miR-4422	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999225	hsa-miR-4703-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999227	hsa-miR-1252	CLIP-seq
MIRT999228	hsa-miR-129-3p	CLIP-seq
MIRT999229	hsa-miR-143	CLIP-seq
MIRT999230	hsa-miR-1910	CLIP-seq
MIRT999231	hsa-miR-1976	CLIP-seq
MIRT999232	hsa-miR-19a	CLIP-seq
MIRT999233	hsa-miR-19b	CLIP-seq
MIRT999234	hsa-miR-200b	CLIP-seq
MIRT999235	hsa-miR-200c	CLIP-seq
MIRT999236	hsa-miR-2053	CLIP-seq
MIRT999237	hsa-miR-2113	CLIP-seq
MIRT999238	hsa-miR-2115	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT999240	hsa-miR-2278	CLIP-seq
MIRT999241	hsa-miR-2355-5p	CLIP-seq
MIRT999242	hsa-miR-2467-3p	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT999245	hsa-miR-30a	CLIP-seq
MIRT999246	hsa-miR-30b	CLIP-seq
MIRT999247	hsa-miR-30c	CLIP-seq
MIRT999248	hsa-miR-30d	CLIP-seq
MIRT999249	hsa-miR-30e	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT999251	hsa-miR-3183	CLIP-seq
MIRT999252	hsa-miR-323-5p	CLIP-seq
MIRT999253	hsa-miR-342-5p	CLIP-seq
MIRT999254	hsa-miR-3680	CLIP-seq
MIRT999255	hsa-miR-3682-5p	CLIP-seq
MIRT999256	hsa-miR-3907	CLIP-seq
MIRT999257	hsa-miR-4252	CLIP-seq
MIRT999258	hsa-miR-4257	CLIP-seq
MIRT999259	hsa-miR-429	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999260	hsa-miR-4530	CLIP-seq
MIRT999261	hsa-miR-455-3p	CLIP-seq
MIRT999262	hsa-miR-4651	CLIP-seq
MIRT999263	hsa-miR-4664-5p	CLIP-seq
MIRT999264	hsa-miR-4707-5p	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT999265	hsa-miR-4723-3p	CLIP-seq
MIRT738493	hsa-miR-4727-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999266	hsa-miR-4768-3p	CLIP-seq
MIRT999267	hsa-miR-4770	CLIP-seq
MIRT999268	hsa-miR-516a-3p	CLIP-seq
MIRT999269	hsa-miR-569	CLIP-seq
MIRT999270	hsa-miR-608	CLIP-seq
MIRT999271	hsa-miR-609	CLIP-seq
MIRT999272	hsa-miR-646	CLIP-seq
MIRT999273	hsa-miR-665	CLIP-seq
MIRT999274	hsa-miR-876-3p	CLIP-seq
MIRT999275	hsa-miR-922	CLIP-seq
MIRT1920429	hsa-miR-2467-5p	CLIP-seq
MIRT1920430	hsa-miR-378g	CLIP-seq
MIRT1920431	hsa-miR-433	CLIP-seq
MIRT1920432	hsa-miR-4712-3p	CLIP-seq
MIRT1996106	hsa-miR-128	CLIP-seq
MIRT1996107	hsa-miR-153	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT1996108	hsa-miR-27a	CLIP-seq
MIRT1996109	hsa-miR-27b	CLIP-seq
MIRT1996110	hsa-miR-3647-3p	CLIP-seq
MIRT1996111	hsa-miR-4282	CLIP-seq
MIRT2230144	hsa-miR-146b-3p	CLIP-seq
MIRT2230145	hsa-miR-190	CLIP-seq
MIRT2230146	hsa-miR-190b	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT2230147	hsa-miR-3145-5p	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT2230148	hsa-miR-3173-5p	CLIP-seq
MIRT2230149	hsa-miR-323b-3p	CLIP-seq
MIRT2230150	hsa-miR-34a	CLIP-seq
MIRT2230151	hsa-miR-34c-5p	CLIP-seq
MIRT2230152	hsa-miR-449a	CLIP-seq
MIRT2230153	hsa-miR-449b	CLIP-seq
MIRT2230154	hsa-miR-4696	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT2230155	hsa-miR-498	CLIP-seq
MIRT2230156	hsa-miR-874	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IEA
GO:0015232	Function	Heme transmembrane transporter activity	IBA	21873635
GO:0015232	Function	Heme transmembrane transporter activity	IDA	20823265
GO:0016021	Component	Integral component of membrane	IEA
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	20823265
GO:0055085	Process	Transmembrane transport	IEA
GO:0097037	Process	Heme export	IBA	21873635

Other IDs

• MIM: 610865
• HGNC: 20105
• e!Ensembl: ENSG00000119686

Protein

• UniProt ID: Q9UPI3
• Protein name: Choline/ethanolamine transporter FLVCR2 (Calcium-chelate transporter) (CCT) (Feline leukemia virus subgroup C receptor-related protein 2) (Heme transporter FLVCR2)
• Protein function: Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By simi
• PDB: 8QCX, 8QCY, 8QCZ, 8QD0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	87 → 454	Major Facilitator Superfamily	Family

• Sequence:

  MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPSVSVHPSSSAHPSALAQ
  PSGLAHPSSSGPEDLSVIKVSRRRWAVVLVFSCYSMCNSFQWIQYGSINNIFMHFYGVSA
  FAIDWLSMCYMLTYIPLLLPVAWLLEKFGLRTIALTGSALNCLGAWVKLGSLKPHLFPVT
  VVGQLICSVAQVFILGMPSRIASVWFGANEVSTACSVAVFGNQLGIAIGFLVPPVLVPNI
  EDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPPSRAQSLSYALTSPDASYLGS
  IARLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIWHYPGEEVNAGRIGLTIVIAGMLG
  AVISGIWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGHLWVVFITAGTMGFFMTGYLP
  LGFEFAVELTYPESEGISSGLLNISAQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLG
  AALTAFIKADLRRQKANKETLENKLQEEEEESNTSKVPTAVSEDHL

• Sequence length: 526

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Fowler syndrome	Fowler syndrome	rs267606825, rs746459536, rs267606822, rs138495705, rs267606823, rs267606824, rs780523767, rs759296326, rs1594785775	20206334
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dandy-walker syndrome	Dandy-Walker Syndrome
Fowler vasculopaty	Fowler vasculopaty
Hydranencephaly	Hydranencephaly
Micrognathism	Micrognathism
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	Encephaloclastic Proliferative Vasculopathy		20206334, 20690116, 20518025