SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS867836657 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS867848081 KCNQ2 Health Risk Pathogenic Seizure, Early-infantile DEE
RS867851900 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS867862540 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS867868120 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS867868993 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS867871906 TASP1 Health Risk Likely pathogenic Suleiman-El-Hattab syndrome, Suleiman-El-Hattab syndrome
RS867875828 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS867879148 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS867880328 RP1 Health Risk Pathogenic —
RS867880706 SGPL1 Health Risk Pathogenic —
RS867882536 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS867885753 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS867885977 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS867904492 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS867909116 NBAS Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS867927445 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS867927501 TPP1 Health Risk Likely pathogenic —
RS867929413 GBA1 Health Risk Pathogenic Gaucher disease, Thrombocytopenia
RS867929430 SKIC3 Health Risk Pathogenic —
RS867933096 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS867941074 LRP2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS867944805 ELP2 Health Risk Likely pathogenic ELP2-related disorder, ELP2-related disorder
RS867945364 COL4A3 Health Risk Likely pathogenic —
RS867955218 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS867958037 MPC1 Health Risk Likely pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS867966048 SDHC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS867967504 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS867968394 SCLT1 Health Risk Pathogenic 6 conditions, 6 conditions
RS867969236 LRPPRC Health Risk Pathogenic —
RS867974337 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS867975105 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Meacham syndrome
RS867979237 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS867982105 GNB1L Health Risk Conflicting classifications of pathogenicity —
RS867985408 ADGRV1 Health Risk Pathogenic —
RS867991237 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS867994747 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS868002181 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS868002362 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS868005783 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS868005849 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 1
RS868010710 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS868011757 SPTB Health Risk Pathogenic —
RS868013105 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS868019991 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Abnormality of the musculature
RS868023411 SLC35B2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS868028669 GEMIN5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS868032104 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS868032740 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS868040089 PHACTR1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 70
RS868044680 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS868053135 ARV1 Health Risk Likely pathogenic —
RS868055567 KCNQ2 Health Risk Likely pathogenic —
RS868057037 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS868061310 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS868064056 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS868064163 ACTL6A Health Risk Conflicting classifications of pathogenicity 13 conditions, ACTL6A-related BAFopathy
RS868067075 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS868067982 IGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868069558 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868073099 ELP1 Health Risk Pathogenic Familial dysautonomia, Familial dysautonomia
RS868074288 SCN2A Health Risk Likely pathogenic —
RS868081432 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS868081502 C9 Health Risk Conflicting classifications of pathogenicity C9-related disorder, C9-related disorder
RS868081622 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS868085658 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS868085949 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868087579 PUM1 Health Risk Likely pathogenic —
RS868095435 SETD1B Health Risk Pathogenic —
RS868096125 SHH Health Risk Pathogenic Partial agenesis of the corpus callosum, Partial agenesis of the corpus callosum
RS868097890 SCN5A Health Risk Pathogenic —
RS868097991 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS868098120 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS868107005 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS868109198 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS868110178 CACNA1I Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
RS868110215 NRAP Health Risk Pathogenic —
RS868110599 ODAD1 Health Risk Likely pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia 20
RS868112062 CTSK Health Risk Conflicting classifications of pathogenicity —
RS868113829 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS868122313 COL9A1 Health Risk Likely pathogenic —
RS868127074 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS868134621 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS868137297 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS868138294 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS868138875 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Abnormality of the musculature
RS868138895 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS868148490 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS868151020 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS868153877 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS868156117 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS868157645 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS868166455 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS868169034 ATR Health Risk Pathogenic —
RS868174994 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS868176515 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS868183689 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS868185064 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS868188730 CDH23 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Bilateral sensorineural hearing impairment
RS868193249 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
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