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
RS191712530 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS191721354 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS191722579 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS191727100 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS191732050 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS191736346 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS191736683 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS191741115 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS191742018 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS191743300 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, MED13L-related disorder
RS191746041 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS191749331 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS191754224 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS191754378 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hyperkalemic periodic paralysis
RS191757062 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS191757914 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS191759494 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS191759530 TMEM67 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 11, Meckel syndrome
RS191763644 ACVRL1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS191767954 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS191773730 RP1L1 Health Risk Conflicting classifications of pathogenicity RP1L1-related disorder, Inborn genetic diseases
RS191773926 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS191776366 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191778417 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS191786700 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS191789336 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS191791959 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS191795044 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS191796211 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS191798831 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS191802172 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS191804141 PRB3 Health Risk Conflicting classifications of pathogenicity —
RS191807913 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS191814086 GFRA1 Health Risk Likely pathogenic Renal hypodysplasia/aplasia 4, Renal hypodysplasia/aplasia 4
RS1918142335 C3 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS191821211 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS191828237 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS191830054 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS191837710 OBSCN Health Risk Conflicting classifications of pathogenicity OBSCN-related disorder, OBSCN-related disorder
RS191837837 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS191838840 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Branchiootic syndrome 1
RS191840835 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS191846522 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS191850147 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS191850409 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS191850940 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS191851268 ASB10 Health Risk Conflicting classifications of pathogenicity —
RS191854953 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS191858417 CDHR1 Health Risk Pathogenic —
RS191860894 IFT74 Health Risk Conflicting classifications of pathogenicity IFT74-related disorder, IFT74-related disorder
RS191867233 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS191867796 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 105
RS191869263 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS191869845 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS191872498 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS191872612 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS191875469 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS191884433 SLC26A2 Health Risk Conflicting classifications of pathogenicity Sulfate transporter-related osteochondrodysplasia, Diastrophic dysplasia
RS191899712 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS191901426 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS191903572 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Inborn genetic diseases
RS191905539 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Inborn genetic diseases
RS191912891 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS191913664 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Nephronophthisis
RS191915715 ISCA2 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
RS191917454 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS191927317 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS191927501 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS191928354 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191938566 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS191941806 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS191943709 FANCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS191944205 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS191955041 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS191955969 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS191957211 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS191962062 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS191962905 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191968963 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS191969418 PEX7 Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1
RS191971137 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS191971593 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS191973037 DTNA Health Risk Conflicting classifications of pathogenicity —
RS191973184 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS191973706 TJP1 Health Risk Conflicting classifications of pathogenicity TJP1-related disorder, TJP1-related disorder
RS191980454 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS191984935 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS191985301 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS191988004 PLD1 Health Risk Conflicting classifications of pathogenicity —
RS191989961 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS191994354 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS191995452 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS191995849 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS191996302 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS191999465 KY Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 7, Myofibrillar myopathy 7
RS192001910 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS192003514 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS192003551 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS192004342 APOB Health Risk Pathogenic Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS192004962 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
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