SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS200242905 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS200243235 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS200243306 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS200243384 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS200243548 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS200243596 OPA1;OPA1-AS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Glaucoma
RS200243805 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS200243948 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco addiction, susceptibility to
RS200243976 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa
RS200244154 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS200244173 PKHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 4
RS200244203 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis
RS200244254 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS200244690 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, Intellectual disability
RS200245469 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS200245623 ACBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACBD5-related disorder
RS200245794 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS200245838 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS200245855 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS200245949 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200245957 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2D-related disorder
RS200246273 MYO9A Health Risk Conflicting classifications of pathogenicity —
RS200246335 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS200246388 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS200246467 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS200246472 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS200246759 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS200247054 INF2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS200247284 ENTPD1 Health Risk Conflicting classifications of pathogenicity —
RS200247528 FGF10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital absence of salivary gland
RS200247956 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS200248159 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, TRPM6-related disorder
RS200248198 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS200248611 PRAMEF2 Health Risk Conflicting classifications of pathogenicity —
RS200248814 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS200248944 ACTN2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS200249470 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS200249508 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200249745 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS200249861 FRMPD4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 104
RS200249886 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS200250096 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200250294 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200250333 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS200250528 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS200250810 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS200250931 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200250962 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS200251444 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200251748 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS200251814 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Nanophthalmos 2
RS200251893 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS200251958 PARP10 Health Risk Conflicting classifications of pathogenicity —
RS200252519 SLC27A5 Health Risk Conflicting classifications of pathogenicity Uveal melanoma, Lung cancer
RS200252727 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200252755 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS200252911 TIAM1 Health Risk Conflicting classifications of pathogenicity —
RS200253126 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS200253809 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS200254239 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200254470 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200254850 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS200255167 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 58, Retinitis pigmentosa 58
RS200255226 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS200255724 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS200255759 ST3GAL3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 15
RS200255917 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS200256329 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS200256443 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS200256485 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS200256539 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS200257048 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS200257097 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200257205 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, Hereditary spherocytosis type 2
RS200257214 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
RS200257398 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200257416 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS200257554 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS200257610 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS200257799 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS200258214 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS200259086 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS200259438 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Arts syndrome
RS200259519 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS200259659 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Ovarian serous cystadenocarcinoma
RS200259739 RECQL Health Risk Conflicting classifications of pathogenicity —
RS200259757 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS200260574 MYO15A Health Risk Likely pathogenic —
RS200260789 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS200261177 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200261212 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS200261297 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200261320 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS200261541 AKR1D1 Health Risk Conflicting classifications of pathogenicity AKR1D1-related disorder, AKR1D1-related disorder
RS200261709 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS200261738 DNAH9 Health Risk Pathogenic —
RS200261849 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS200261892 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200262244 EMC1 Health Risk Pathogenic —
RS200262333 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
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