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
RS147774167 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1477743112 TDRD7 Health Risk Likely pathogenic Cataract 36, Cataract 36
RS147774793 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS147775249 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1477757203 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1477766714 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS147776688 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CENPF-related disorder
RS147777191 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS147777385 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS1477791039 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Inborn genetic diseases
RS1477806230 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS147782267 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS147782657 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, SCLT1-related disorder
RS1477842688 PCNT Health Risk Pathogenic —
RS147784534 ITGA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147784568 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS147785187 CBLIF Health Risk Pathogenic Hereditary intrinsic factor deficiency, See cases
RS1477854736 SECISBP2 Health Risk Likely pathogenic Thyroid hormone metabolism, abnormal 1
RS1477855514 HTRA1 Health Risk Likely pathogenic —
RS1477860542 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1477874798 FAM20C Health Risk Pathogenic —
RS1477879201 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS147788838 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS147789097 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS147790742 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS147791932 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS147792018 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1477922253 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS147793030 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS1477931501 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS147795017 TARDBP Health Risk Conflicting classifications of pathogenicity Motor neuron disease, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS1477951170 VPS13C Health Risk Pathogenic —
RS147795348 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS147795644 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS147796138 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD3-related disorder
RS147796599 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS147796755 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS147796956 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS147797288 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS147797471 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS147797612 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1477977704 COL7A1 Health Risk Pathogenic —
RS147798092 CLCN5 Health Risk Conflicting classifications of pathogenicity X-linked recessive nephrolithiasis with renal failure, Dent disease type 1
RS147798761 VCAN Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS147800268 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS147800688 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS1478013002 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS147801650 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS147802150 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FN1-related disorder
RS147802438 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Wiskott-Aldrich syndrome
RS147803210 SCN3B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 7, Cardiovascular phenotype
RS1478038032 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1478038443 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS1478040715 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Inborn genetic diseases
RS147804176 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1478044147 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS147804813 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS147805077 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS147805823 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS147806951 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS147807073 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS1478081526 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147808529 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1478088223 MAST3 Health Risk Conflicting classifications of pathogenicity MAST3-related disorder, Developmental and epileptic encephalopathy 108
RS147810006 GNB2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
RS147810145 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1478102899 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147811057 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1478113552 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS147811720 CHL1 Health Risk Conflicting classifications of pathogenicity CHL1-related disorder, CHL1-related disorder
RS1478129213 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1478133549 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS147813944 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA1-related disorder
RS147814121 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS147814367 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder
RS1478152005 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS147815442 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS147815999 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS147816326 OCA2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Oculocutaneous Albinism, Tyrosinase-positive oculocutaneous albinism
RS147816470 SURF1 Health Risk Pathogenic Leigh syndrome, SURF1-related disorder
RS1478167106 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS147816724 HNF1B Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Renal cysts and diabetes syndrome
RS147817526 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS1478175861 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal
RS1478177125 SPTLC1 Health Risk Pathogenic Amyotrophic lateral sclerosis 27, juvenile
RS147818390 CYP4F22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1478186269 CEP78 Health Risk Likely pathogenic —
RS1478199796 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS147819987 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1478202079 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1478204355 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147820869 SGCG Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1478208887 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS147822019 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1478233429 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1478233597 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS147823569 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1478244495 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1478248064 RHO Health Risk Pathogenic —
RS147825414 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
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