SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879255676 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255677 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255678 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255679 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255680 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255681 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255682 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255683 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255684 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255685 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS879255686 DNM1L Health Risk Pathogenic Encephalopathy, lethal
RS879255687 DNM1L Health Risk Pathogenic/Likely pathogenic Encephalopathy, lethal
RS879255688 DNM1L Health Risk Conflicting classifications of pathogenicity Encephalopathy, lethal
RS879255690 MFF Health Risk Pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS879255692 ORC6 Health Risk Pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS879255694 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS879255695 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255696 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS879255697 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255699 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS879255700 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255702 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS879255703 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255704 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255705 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255707 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879255708 SCN8A Health Risk Likely pathogenic —
RS879255709 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS879255710 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS879257322 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS879274205 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS879328855 GOSR2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Inborn genetic diseases
RS879333781 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS879352720 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS879355791 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS879399888 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS879415203 GHRHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS879442926 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS879447211 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS879449703 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879541124 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS879686998 CEP135 Health Risk Pathogenic —
RS879718216 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS879745047 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Lafora disease
RS879758262 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS879779919 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS879782394 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder
RS879791059 ABCC6 Health Risk Pathogenic —
RS879796523 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS879802265 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder
RS879809934 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS879819421 POMGNT2 Health Risk Likely pathogenic —
RS879839698 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS879847893 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS879851088 DPYS Health Risk Pathogenic/Likely pathogenic DPYS-related disorder, DPYS-related disorder
RS879897044 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS879921003 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS879956688 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS879975642 ATP1A3 Health Risk Likely pathogenic ATP1A3-related disorder, ATP1A3-related disorder
RS879984755 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS879989957 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS879993801 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS880003306 SSR4 Health Risk Likely pathogenic SSR4-congenital disorder of glycosylation, Nonpapillary renal cell carcinoma
RS883246 C1QTNF5 Health Risk Conflicting classifications of pathogenicity —
RS886037606 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS886037607 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Severe combined immunodeficiency disease
RS886037608 FLCN Health Risk Pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS886037609 FLCN Health Risk Pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS886037610 FLCN Health Risk Pathogenic Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS886037612 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS886037613 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS886037615 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS886037616 LBR Health Risk Pathogenic Pelger-Huët anomaly, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
RS886037617 LBR Health Risk Pathogenic Pelger-Huët anomaly, Pelger-Huët anomaly
RS886037618 LBR Health Risk Pathogenic Pelger-Huët anomaly, Pelger-Huët anomaly
RS886037619 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS886037620 BLK Health Risk Pathogenic Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS886037624 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
RS886037625 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS886037626 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS886037628 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS886037629 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4
RS886037630 FXN Health Risk Pathogenic Friedreich ataxia 1, Friedreich ataxia 1
RS886037631 TMEM165 Health Risk Pathogenic TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS886037632 IL21R Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS886037633 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS886037634 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS886037635 DARS1 Health Risk Pathogenic Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS886037636 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS886037637 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
RS886037638 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS886037639 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS886037640 TCF12 Health Risk Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS886037641 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS886037642 SLC24A5 Health Risk association Skin/hair/eye pigmentation, variation in
RS886037643 SLC24A5 Health Risk Pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS886037644 SLC24A5 Health Risk Likely pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS886037645 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS886037646 GCM2 Health Risk Pathogenic Hypoparathyroidism, familial isolated
RS886037647 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
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