SRD5A3 (steroid 5 alpha-reductase 3)

Gene

• Entrez ID: 79644
• Gene name: Steroid 5 alpha-reductase 3
• Gene symbol: SRD5A3
• Synonyms: CDG1P, CDG1Q, KRIZI, S5AR, S5AR 3, SRD5A2L, SRD5A2L1
• Chromosome: 4
• Chromosome location: 4q12
• Summary: The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201123766	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs267607092	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs267607093	G>A	Pathogenic	Coding sequence variant, stop gained
rs267607094	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs267607095	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs376944136	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs398124401	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs587776521	CAA>TGAGTAAGGC	Pathogenic	Stop gained, coding sequence variant
rs752307253	G>-	Likely-pathogenic	Intron variant
rs772795484	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs869320736	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064796421	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1487808056	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1578209906	C>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048534	hsa-miR-100-5p	CLASH	23622248
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	23313552
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	23313552
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	23313552
MIRT685561	hsa-miR-3611	HITS-CLIP	23313552
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT685559	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685562	hsa-miR-127-5p	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685561	hsa-miR-3611	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685559	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685565	hsa-miR-3928-5p	HITS-CLIP	23313552
MIRT685564	hsa-miR-6806-3p	HITS-CLIP	23313552
MIRT685563	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685562	hsa-miR-127-5p	HITS-CLIP	23313552
MIRT685561	hsa-miR-3611	HITS-CLIP	23313552
MIRT685560	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT685559	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT1387899	hsa-miR-1252	CLIP-seq
MIRT1387900	hsa-miR-1255b	CLIP-seq
MIRT1387901	hsa-miR-1265	CLIP-seq
MIRT1387902	hsa-miR-1343	CLIP-seq
MIRT1387903	hsa-miR-150	CLIP-seq
MIRT1387904	hsa-miR-185	CLIP-seq
MIRT1387905	hsa-miR-1912	CLIP-seq
MIRT1387906	hsa-miR-192	CLIP-seq
MIRT1387907	hsa-miR-214	CLIP-seq
MIRT1387908	hsa-miR-215	CLIP-seq
MIRT1387909	hsa-miR-2467-3p	CLIP-seq
MIRT1387910	hsa-miR-3136-5p	CLIP-seq
MIRT1387911	hsa-miR-3140-5p	CLIP-seq
MIRT1387912	hsa-miR-3150b-3p	CLIP-seq
MIRT1387913	hsa-miR-3164	CLIP-seq
MIRT1387914	hsa-miR-33a	CLIP-seq
MIRT1387915	hsa-miR-33b	CLIP-seq
MIRT1387916	hsa-miR-361-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT1387923	hsa-miR-3929	CLIP-seq
MIRT1387924	hsa-miR-3942-3p	CLIP-seq
MIRT1387925	hsa-miR-433	CLIP-seq
MIRT1387926	hsa-miR-4419b	CLIP-seq
MIRT1387927	hsa-miR-4427	CLIP-seq
MIRT1387928	hsa-miR-4437	CLIP-seq
MIRT1387929	hsa-miR-4439	CLIP-seq
MIRT1387930	hsa-miR-4478	CLIP-seq
MIRT1387931	hsa-miR-4495	CLIP-seq
MIRT1387932	hsa-miR-4497	CLIP-seq
MIRT1387933	hsa-miR-4513	CLIP-seq
MIRT1387934	hsa-miR-4519	CLIP-seq
MIRT1387935	hsa-miR-455-5p	CLIP-seq
MIRT1387936	hsa-miR-4674	CLIP-seq
MIRT1387937	hsa-miR-4713-5p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT1387939	hsa-miR-4784	CLIP-seq
MIRT1387940	hsa-miR-485-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387942	hsa-miR-532-3p	CLIP-seq
MIRT1387943	hsa-miR-544	CLIP-seq
MIRT1387944	hsa-miR-550a	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT1387946	hsa-miR-890	CLIP-seq
MIRT2116211	hsa-miR-1224-3p	CLIP-seq
MIRT1387901	hsa-miR-1265	CLIP-seq
MIRT2116212	hsa-miR-1273	CLIP-seq
MIRT2116213	hsa-miR-1285	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116215	hsa-miR-3160-5p	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2116217	hsa-miR-3187-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2116220	hsa-miR-3925-3p	CLIP-seq
MIRT2116221	hsa-miR-4423-3p	CLIP-seq
MIRT2116222	hsa-miR-4486	CLIP-seq
MIRT1387931	hsa-miR-4495	CLIP-seq
MIRT2116223	hsa-miR-4649-5p	CLIP-seq
MIRT2116224	hsa-miR-4651	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2116225	hsa-miR-4793-3p	CLIP-seq
MIRT2116226	hsa-miR-508-5p	CLIP-seq
MIRT2116227	hsa-miR-608	CLIP-seq
MIRT2116228	hsa-miR-612	CLIP-seq
MIRT2116229	hsa-miR-622	CLIP-seq
MIRT1387946	hsa-miR-890	CLIP-seq
MIRT2116211	hsa-miR-1224-3p	CLIP-seq
MIRT2116212	hsa-miR-1273	CLIP-seq
MIRT2116213	hsa-miR-1285	CLIP-seq
MIRT2338739	hsa-miR-147	CLIP-seq
MIRT2338740	hsa-miR-219-2-3p	CLIP-seq
MIRT2338741	hsa-miR-302a	CLIP-seq
MIRT2338742	hsa-miR-302b	CLIP-seq
MIRT2338743	hsa-miR-302c	CLIP-seq
MIRT2338744	hsa-miR-302d	CLIP-seq
MIRT2338745	hsa-miR-302e	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2116217	hsa-miR-3187-5p	CLIP-seq
MIRT2338746	hsa-miR-3613-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2338747	hsa-miR-372	CLIP-seq
MIRT2338748	hsa-miR-373	CLIP-seq
MIRT1387922	hsa-miR-378g	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2116220	hsa-miR-3925-3p	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT2116222	hsa-miR-4486	CLIP-seq
MIRT2338751	hsa-miR-4511	CLIP-seq
MIRT1387935	hsa-miR-455-5p	CLIP-seq
MIRT2116223	hsa-miR-4649-5p	CLIP-seq
MIRT2338752	hsa-miR-4661-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338753	hsa-miR-4731-5p	CLIP-seq
MIRT2338754	hsa-miR-4757-5p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2116225	hsa-miR-4793-3p	CLIP-seq
MIRT2116226	hsa-miR-508-5p	CLIP-seq
MIRT2338756	hsa-miR-512-3p	CLIP-seq
MIRT2338757	hsa-miR-520a-3p	CLIP-seq
MIRT2338758	hsa-miR-520b	CLIP-seq
MIRT2338759	hsa-miR-520c-3p	CLIP-seq
MIRT2338760	hsa-miR-520d-3p	CLIP-seq
MIRT2338761	hsa-miR-520e	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2338763	hsa-miR-548b-3p	CLIP-seq
MIRT2338764	hsa-miR-599	CLIP-seq
MIRT2116228	hsa-miR-612	CLIP-seq
MIRT2116229	hsa-miR-622	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT2338740	hsa-miR-219-2-3p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2338746	hsa-miR-3613-5p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2338751	hsa-miR-4511	CLIP-seq
MIRT2338752	hsa-miR-4661-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2338763	hsa-miR-548b-3p	CLIP-seq
MIRT1387945	hsa-miR-658	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2460528	hsa-miR-3591-5p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2460529	hsa-miR-4473	CLIP-seq
MIRT2460530	hsa-miR-4671-3p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2338756	hsa-miR-512-3p	CLIP-seq
MIRT2460531	hsa-miR-518a-5p	CLIP-seq
MIRT2460532	hsa-miR-520f	CLIP-seq
MIRT2460533	hsa-miR-527	CLIP-seq
MIRT2632169	hsa-miR-1	CLIP-seq
MIRT2632170	hsa-miR-122	CLIP-seq
MIRT2632171	hsa-miR-1244	CLIP-seq
MIRT1387904	hsa-miR-185	CLIP-seq
MIRT2632172	hsa-miR-1972	CLIP-seq
MIRT2632173	hsa-miR-199a-3p	CLIP-seq
MIRT2632174	hsa-miR-199b-3p	CLIP-seq
MIRT2632175	hsa-miR-206	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2632176	hsa-miR-3129-5p	CLIP-seq
MIRT2632177	hsa-miR-3135b	CLIP-seq
MIRT2632178	hsa-miR-3151	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT2632179	hsa-miR-3613-3p	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT1387919	hsa-miR-3622b-5p	CLIP-seq
MIRT2632180	hsa-miR-3652	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT2632181	hsa-miR-3672	CLIP-seq
MIRT2632182	hsa-miR-3673	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2632183	hsa-miR-371-5p	CLIP-seq
MIRT2632184	hsa-miR-371b-5p	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2632185	hsa-miR-3926	CLIP-seq
MIRT2632186	hsa-miR-4265	CLIP-seq
MIRT2632187	hsa-miR-4276	CLIP-seq
MIRT2632188	hsa-miR-4296	CLIP-seq
MIRT2632189	hsa-miR-4322	CLIP-seq
MIRT2632190	hsa-miR-4430	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2632191	hsa-miR-4447	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT2632192	hsa-miR-4472	CLIP-seq
MIRT2632193	hsa-miR-4659a-5p	CLIP-seq
MIRT2632194	hsa-miR-4659b-5p	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2632195	hsa-miR-4755-3p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2632196	hsa-miR-4769-3p	CLIP-seq
MIRT2632197	hsa-miR-4786-5p	CLIP-seq
MIRT2632198	hsa-miR-491-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2632199	hsa-miR-548s	CLIP-seq
MIRT2632200	hsa-miR-570	CLIP-seq
MIRT2632201	hsa-miR-607	CLIP-seq
MIRT2632202	hsa-miR-613	CLIP-seq
MIRT2632203	hsa-miR-769-5p	CLIP-seq
MIRT2632204	hsa-miR-936	CLIP-seq
MIRT2632171	hsa-miR-1244	CLIP-seq
MIRT2632173	hsa-miR-199a-3p	CLIP-seq
MIRT2632174	hsa-miR-199b-3p	CLIP-seq
MIRT2116214	hsa-miR-3122	CLIP-seq
MIRT2632176	hsa-miR-3129-5p	CLIP-seq
MIRT2116216	hsa-miR-3165	CLIP-seq
MIRT1387917	hsa-miR-3622a-3p	CLIP-seq
MIRT1387918	hsa-miR-3622b-3p	CLIP-seq
MIRT2116218	hsa-miR-3665	CLIP-seq
MIRT2632181	hsa-miR-3672	CLIP-seq
MIRT1387920	hsa-miR-3689a-3p	CLIP-seq
MIRT1387921	hsa-miR-3689c	CLIP-seq
MIRT2116219	hsa-miR-3913-5p	CLIP-seq
MIRT2338749	hsa-miR-4433	CLIP-seq
MIRT2338750	hsa-miR-4459	CLIP-seq
MIRT1387938	hsa-miR-4728-5p	CLIP-seq
MIRT2691944	hsa-miR-4738-3p	CLIP-seq
MIRT2338755	hsa-miR-4768-3p	CLIP-seq
MIRT2632197	hsa-miR-4786-5p	CLIP-seq
MIRT1387941	hsa-miR-515-5p	CLIP-seq
MIRT2338762	hsa-miR-544b	CLIP-seq
MIRT2632203	hsa-miR-769-5p	CLIP-seq
MIRT2632204	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	22194926

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA	21873635
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IDA	17986282
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	20637498
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA	21873635
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	20637498
GO:0006489	Process	Dolichyl diphosphate biosynthetic process	TAS
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016095	Process	Polyprenol catabolic process	IBA	21873635
GO:0016095	Process	Polyprenol catabolic process	IDA	20637498
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA	20637498
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	TAS
GO:0019348	Process	Dolichol metabolic process	IDA	20637498
GO:0019408	Process	Dolichol biosynthetic process	IBA	21873635
GO:0047751	Function	Cholestenone 5-alpha-reductase activity	IEA
GO:0102389	Function	Polyprenol reductase activity	IEA

Other IDs

• MIM: 611715
• HGNC: 25812
• e!Ensembl: ENSG00000128039

Protein

• UniProt ID: Q9H8P0
• Protein name: Polyprenal reductase (EC 1.3.1.94) (3-oxo-5-alpha-steroid 4-dehydrogenase 3) (EC 1.3.1.22) (Steroid 5-alpha-reductase 2-like) (Steroid 5-alpha-reductase 3) (S5AR 3) (SR type 3)
• Protein function: Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol (PubMed:20637498, PubMed:38821050). Acts as a polyprenal reductase that mediates the reduction of polyprenal into d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02544	Steroid_dh	158 → 318	3-oxo-5-alpha-steroid 4-dehydrogenase	Family

• Sequence:

  MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEP
  SRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQF
  QGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQ
  VPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILGNLRKNKAGVVIHCNH
  RIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYK
  SKFVSYPKHRKAFLPFLF

• Sequence length: 318

Pathways

KEGG:

Steroid hormone biosynthesis
N-Glycan biosynthesis
Metabolic pathways

Reactome:

Androgen biosynthesis
Synthesis of Dolichyl-phosphate
Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Iron-Refractory Iron Deficiency Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Antithrombin deficiency	Antithrombin III Deficiency	rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs483352856, rs483352854, rs786204063, rs863224495, rs542881762, rs758087836, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cone dystrophy	Cone Dystrophy	rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709, rs139027297, rs140451304, rs1238632042, rs117522010, rs1023522305, rs531851447, rs1271498710, rs1554186441, rs757622521, rs1028838062, rs1568725951, rs1564801134, rs1557918619, rs1582323732, rs1589705946, rs1589693002, rs1659954489, rs1660447204, rs1660845802, rs1692799480, rs1800113541, rs138924201, rs748084580, rs1883036406, rs1905007623, rs1589690942, rs1589704707, rs1768016995
Congenital disorder of glycosylation	Congenital Disorders of Glycosylation, Congenital disorder of glycosylation type 1q, SRD5A3-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	20637498, 24433453, 20852264, 22304929, 18271001, 27480077, 27604308
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Creutzfeldt-jakob disease	New Variant Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Disease, Familial	rs193922906, rs74315401, rs28933385, rs74315412, rs398122370	23349890
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	21937992
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Kahrizi syndrome	Kahrizi Syndrome	rs587776521, rs869320736, rs398124401	24433453, 26219881
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
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
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease name	Disease term	dbSNP ID	References
Brachycephaly	Brachycephaly
Cerebellar atrophy	Cerebellar atrophy
Congenital coloboma of iris	Congenital coloboma of iris
Dysmorphic features	Dysmorphic features		20852264, 26219881, 27480077, 28253385, 20700148, 20637498, 24433453
Eczema	Eczema
Elbow flexion contracture	Flexion contracture - elbow
Hyperkeratosis	Hyperkeratosis
Hypertrichosis	Hypertrichosis
Hypoplasia of optic disc	Hypoplasia of optic disc
Hypoplasia of the optic nerve	Hypoplasia of the optic nerve
Hypoplasia of the pituitary gland	Hypoplasia of the pituitary gland
Motor delay	Clumsiness - motor delay
Somatotropin deficiency	Somatotropin deficiency
Strawberry nevus of skin	Strawberry nevus of skin
Uranostaphyloschisis	Uranostaphyloschisis