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
RS780810631 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS780811477 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS780814559 CC2D2A Health Risk Pathogenic —
RS780815020 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS780815292 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS780815307 SLC26A3 Health Risk Likely pathogenic —
RS780816003 ATM Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Familial cancer of breast
RS780816243 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS780817685 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Retinal dystrophy
RS780818183 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS780819073 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS780820166 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS780820172 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS780820263 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS780820468 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS780822241 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS780823419 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS780823510 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS780823789 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS780824428 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS780824645 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS780824776 LCAT Health Risk Pathogenic —
RS780825099 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS780826119 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS780826701 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Intellectual disability
RS780827837 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS780828140 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS780828160 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780828430 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS780829334 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS780829988 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS780831084 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS780831903 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780834493 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS780834499 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS780834658 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS780835388 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780836747 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS780837200 PCCB Health Risk Likely pathogenic Propionic acidemia, PCCB-related disorder
RS780837520 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS780839834 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS780840040 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS780840380 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS780842435 TTN Health Risk Likely pathogenic —
RS780843272 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS780843358 POLE Health Risk Likely pathogenic Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS780843840 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780843883 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Retinal dystrophy
RS780844229 SLC12A3 Health Risk Pathogenic —
RS780844859 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS780846396 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS780846555 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780846691 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780846892 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS780847651 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS780848944 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS780849567 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS780851340 NDUFV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780851496 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS780851934 GFER Health Risk Conflicting classifications of pathogenicity Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS780852099 ADAMTS19 Health Risk Likely pathogenic ADAMTS19-related disorder, ADAMTS19-related disorder
RS780854072 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS780854867 CACNA2D1 Health Risk Pathogenic Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110
RS780855765 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS780857373 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS780857558 TET2 Health Risk Pathogenic —
RS780858279 PPP2R5D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780859734 SLC7A14 Health Risk Conflicting classifications of pathogenicity —
RS780859898 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS780861460 LAMA3 Health Risk Likely pathogenic —
RS780861587 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS780861754 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS780863769 COG7 Health Risk Pathogenic/Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS780863931 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS78086474 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS780864814 DUOX2 Health Risk Pathogenic —
RS780864954 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS780865605 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780867365 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS780867515 GMPPB Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS780867565 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS780868010 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS780868464 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780868782 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS780868977 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS780869838 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780870487 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780870706 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS780870758 FBXO11;MSH6 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Inborn genetic diseases
RS780870767 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS780870860 ELP4 Health Risk Conflicting classifications of pathogenicity —
RS780871066 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS780872303 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS780872307 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS780872661 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS780873164 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS780873477 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS780873661 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS780874850 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS780875110 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
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