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
RS772555314 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS772556132 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS772557416 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS772558362 MYO3A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS772558666 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS772559075 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS772560535 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS772560574 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS772561998 CFI Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly
RS772562216 XRCC4 Health Risk Likely pathogenic Short stature, microcephaly
RS772562587 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS772562722 PRODH Health Risk Pathogenic Inborn genetic diseases, Proline dehydrogenase deficiency
RS772565732 OTOF Health Risk Pathogenic —
RS772565983 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS772566556 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS772566819 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772567265 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS772567442 PKLR Health Risk Pathogenic —
RS772567850 COL11A2 Health Risk Conflicting classifications of pathogenicity 9 conditions, 9 conditions
RS772568482 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Intellectual disability
RS772568696 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS772568756 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS772568845 SFTPC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS772569905 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS772570235 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS772570523 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS772570880 HSPA9 Health Risk Conflicting classifications of pathogenicity Even-plus syndrome, HSPA9-related disorder
RS772571340 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS772572683 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS772572695 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS772572830 FGFRL1 Health Risk Conflicting classifications of pathogenicity —
RS772573176 FBXO11 Health Risk Likely pathogenic FBXO11-related disorder, FBXO11-related disorder
RS772573526 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS772573829 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS772574007 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS772574056 MERTK Health Risk Conflicting classifications of pathogenicity MERTK-related disorder, MERTK-related disorder
RS772574360 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS772574530 GLDC Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Glycine encephalopathy
RS772574714 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS772575104 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS772575670 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS772576138 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS772577005 ESCO2 Health Risk Pathogenic —
RS772578318 COX15 Health Risk Pathogenic —
RS772578397 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS772578415 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS772580081 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS772580545 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS772580580 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS772581324 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS772582396 GGPS1 Health Risk Pathogenic Muscular dystrophy, congenital hearing loss
RS772583212 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS772584110 PLK4 Health Risk Pathogenic —
RS772584938 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS772586175 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772586266 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS772586602 POC1A Health Risk Pathogenic —
RS772587016 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS772587027 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS772588219 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS772588551 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS772589363 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS772589653 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS772590586 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS772591531 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772592088 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS772592456 RCBTB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RS772594172 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS772595230 TECTA Health Risk Conflicting classifications of pathogenicity —
RS772595501 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS772595552 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS772596317 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS772596633 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772597073 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS772597308 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS772597610 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772598470 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS772598739 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS772599038 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS772599282 WDR19 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5
RS772600260 TSHR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS772600691 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772602377 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS772602972 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS772603060 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS772603087 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS772603148 RUSC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 61
RS772603273 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS772603458 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS77260485 TDRD9 Health Risk Conflicting classifications of pathogenicity TDRD9-related disorder, TDRD9-related disorder
RS772605124 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772605790 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS772606107 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS772606235 TECTA Health Risk Conflicting classifications of pathogenicity Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS772607568 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS772607683 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS772608494 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS772608973 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS772608978 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS772609779 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
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