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
RS1333709479 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS1333710212 NALCN Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1333715186 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1333746955 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1333784125 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1333791654 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1333793119 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1333822866 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1333833629 PROM1 Health Risk Likely pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy 12
RS1333865285 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1333876461 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1333878137 COG4 Health Risk Pathogenic/Likely pathogenic COG4-related disorder, COG4-related disorder
RS1333878449 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1333884260 AP1G1 Health Risk Pathogenic Usmani-Riazuddin syndrome, autosomal dominant
RS1333901047 UBR7 Health Risk Likely pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS1333906033 ZBED4 Health Risk Pathogenic Short stature, Short stature
RS1333914993 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1333928954 FREM2 Health Risk Pathogenic —
RS1333935838 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1333937435 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS1333983188 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1333985048 ABCA4 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS1333990758 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1333994006 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS1334014929 ZNF335 Health Risk Likely pathogenic —
RS1334033113 HSD17B3 Health Risk Likely pathogenic —
RS1334033128 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1334035467 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS1334038475 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS1334057595 LAMC3 Health Risk Pathogenic —
RS1334081822 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1334092486 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1334099693 SOX4 Health Risk Likely pathogenic Mild intellectual disability, Coffin-Siris syndrome 10
RS1334114597 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1334120731 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1334127880 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1334134701 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1334138475 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1334145215 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS1334148721 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1334157294 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1334193252 IFT74 Health Risk Likely pathogenic IFT74-related disorder, IFT74-related disorder
RS1334199217 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1334243603 LAMA2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS1334244092 EYS Health Risk Pathogenic —
RS1334301723 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1334317184 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS1334343532 IFT74 Health Risk Likely pathogenic —
RS1334349459 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1334355798 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1334366122 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS1334366268 NDUFV1 Health Risk Likely pathogenic —
RS1334369407 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1334381137 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS1334392544 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS1334439048 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1334444415 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1334444660 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 56
RS1334468304 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1334483830 CEP104 Health Risk Likely pathogenic Joubert syndrome 25, Joubert syndrome 25
RS1334506794 ESCO2 Health Risk Pathogenic —
RS1334515681 EIF2B5 Health Risk Pathogenic —
RS1334537145 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Ovarian serous cystadenocarcinoma
RS1334543067 TTN Health Risk Conflicting classifications of pathogenicity —
RS1334556134 LRPPRC Health Risk Likely pathogenic —
RS1334577291 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1334585480 SUMF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple sulfatase deficiency
RS1334593208 FUT8 Health Risk Pathogenic Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
RS1334642659 PAFAH1B1 Health Risk Pathogenic Abnormal cortical gyration, Abnormal cortical gyration
RS1334651902 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1334656238 DAG1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS1334688271 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1334690406 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1334692966 CHD8 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, CHD8-related disorder
RS1334705963 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS1334706550 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1334741748 SEC23B Health Risk Pathogenic/Likely pathogenic Cowden syndrome 7, Congenital dyserythropoietic anemia
RS1334767632 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1334775360 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1334776212 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1334776746 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1334781963 PGRMC1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1334793787 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1334806555 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1334807463 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1334809949 VPS13C Health Risk Likely pathogenic VPS13C-related disorder, VPS13C-related disorder
RS1334812460 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1334828764 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1334834057 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS1334838296 MFF Health Risk Pathogenic —
RS1334843918 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1334848140 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1334882781 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1334888803 GAA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Glycogen storage disease
RS1334894971 AVIL Health Risk Pathogenic Steroid-resistant nephrotic syndrome, Nephrotic syndrome
RS1334907475 F11 Health Risk Pathogenic/Likely pathogenic —
RS1334913120 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1334926587 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1334933549 PPP3CA Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1334937558 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
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