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
RS201706900 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS201707021 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201707267 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS201707833 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS201707868 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS201707963 HAX1 Health Risk Pathogenic/Likely pathogenic HAX1-related disorder, Kostmann syndrome
RS201708587 KDR Health Risk Conflicting classifications of pathogenicity —
RS201708813 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201708930 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201709328 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201709513 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS201709518 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS201709592 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS201709900 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS201710257 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS201710470 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS201710642 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS201711087 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS201711319 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201711375 AIFM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined oxidative phosphorylation deficiency
RS201711410 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS201711669 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS201711670 LIFR Health Risk Conflicting classifications of pathogenicity LIFR-related disorder, LIFR-related disorder
RS201712580 SPEF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201712827 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201712933 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201712942 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS201713027 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS201713384 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 12 with or without pancreatic agenesis
RS201713621 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS201713771 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS201714031 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS201714147 BMP1 Health Risk Conflicting classifications of pathogenicity BMP1-related disorder, BMP1-related disorder
RS201714199 CFHR5 Health Risk Conflicting classifications of pathogenicity —
RS201714423 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS201714436 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS201714602 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS201714645 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS201715157 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder
RS201715228 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201715448 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS201715521 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiomyopathy
RS201715539 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS201715603 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS201715967 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201716258 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS201716417 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS201716492 NPAT Health Risk Conflicting classifications of pathogenicity —
RS201716815 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS201717599 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS201717871 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201718067 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS201718371 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS201718767 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS201718893 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201718910 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS201719002 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS201719096 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS201719223 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS201719374 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS201719702 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS201719745 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS201719788 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS201719927 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201720099 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS201720741 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS201720770 NAXD Health Risk Pathogenic NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS201720771 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201720797 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS201721215 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Inborn genetic diseases
RS201721269 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS201721391 OTX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Inborn genetic diseases
RS201721676 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS201721812 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS201721894 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS201721923 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS201722260 SLC39A5 Health Risk Conflicting classifications of pathogenicity —
RS201722265 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS201722303 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Inborn genetic diseases
RS201722703 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201722909 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS201723337 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS201723380 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS201723702 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS201724032 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder
RS201724038 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS201724183 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS201724656 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201724962 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201725344 MAPKBP1 Health Risk Conflicting classifications of pathogenicity —
RS201725369 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS201725483 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS201726041 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS201726098 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS201726114 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS201726150 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS201726258 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS201726457 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS201726554 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, ESRRB-related disorder
RS201726560 OTOF Health Risk Conflicting classifications of pathogenicity —
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