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
RS1820531050 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Neoplasm
RS1820538211 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma-pancreatic cancer syndrome
RS1820538394 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1820557069 SMARCA2 Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, Blepharophimosis - intellectual disability syndrome
RS1820558146 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, SMARCA2-related disorder
RS182064161 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS182072601 WHRN Health Risk Conflicting classifications of pathogenicity WHRN-related disorder, WHRN-related disorder
RS182074603 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS182076681 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS182078347 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 3
RS182078921 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, Age related macular degeneration 13
RS182079744 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1820823886 TG Health Risk Pathogenic —
RS1820836522 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
RS182084936 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS182086301 TET3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182086857 CDC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS182092782 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1820936580 SIGMAR1 Health Risk Pathogenic Inborn genetic diseases, Amyotrophic lateral sclerosis type 16
RS182094106 DNAJC21 Health Risk Conflicting classifications of pathogenicity Familial pancreatic carcinoma, Lung cancer
RS182094691 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182096110 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 12
RS182096636 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS182097151 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS182100655 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182102510 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS182103023 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1821068883 TOPORS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1821069325 TOPORS Health Risk Likely pathogenic —
RS1821069769 TOPORS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1821070611 TOPORS Health Risk Likely pathogenic —
RS1821111380 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821141007 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821147877 GALT Health Risk Likely pathogenic Galactosemia, Galactosemia
RS1821157539 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821163303 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS182116576 RPS6KC1 Health Risk Conflicting classifications of pathogenicity —
RS1821166689 CPSF1 Health Risk Likely pathogenic Myopia 27, Myopia 27
RS1821166869 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821175162 GALT Health Risk Likely pathogenic Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821176206 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821178833 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821183505 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821187430 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821187550 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821198172 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1821203474 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS182120395 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS182123615 JAK2 Health Risk Conflicting classifications of pathogenicity Acquired polycythemia vera, 6 conditions
RS182125538 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS182127067 POU1F1 Health Risk Conflicting classifications of pathogenicity —
RS182127619 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1821315647 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1821322134 IL11RA Health Risk Likely pathogenic IL11RA-related disorder, IL11RA-related disorder
RS1821344202 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1821349181 IL11RA Health Risk Likely pathogenic IL11RA-related disorder, IL11RA-related disorder
RS182135982 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 3
RS182139018 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS182139048 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1821395350 TG Health Risk Pathogenic —
RS182143561 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS182144074 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS182144885 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Inborn genetic diseases
RS1821460043 DNAAF11 Health Risk Likely pathogenic DNAAF11-related disorder, DNAAF11-related disorder
RS1821475039 DNAAF11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
RS182151153 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1821577573 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1821581008 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy
RS1821584135 SMARCA2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS182159084 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS1821604564 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS182161195 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS182161386 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1821629207 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS182164052 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS1821653681 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1821654702 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1821661078 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1821663767 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1821677152 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1821677301 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1821713775 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1821721248 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1821721453 KAT6A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1821749145 KAT6A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1821750171 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1821770366 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1821779826 RUSC2 Health Risk Likely pathogenic —
RS182184747 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS182185801 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS182189497 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS1821898026 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1821915703 KAT6A Health Risk Likely pathogenic Inborn genetic diseases, Glioma susceptibility 1
RS182194007 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1821971485 SLC39A4 Health Risk Likely pathogenic —
RS1822010348 RUSC2 Health Risk Pathogenic —
RS1822017858 SLC39A4 Health Risk Pathogenic —
RS182202446 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS1822038329 SLC39A4 Health Risk Pathogenic —
RS1822061222 SLC39A4 Health Risk Likely pathogenic —
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