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
RS374387350 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS374389286 KCNE5 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, KCNE5-related disorder
RS374389311 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS374389962 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis et pupillae, Ectopia lentis 2
RS374390376 CLRN1 Health Risk Pathogenic Retinitis pigmentosa 61, Retinal dystrophy
RS374390581 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS374391312 CHRNA1 Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS374391687 TWNK Health Risk Likely pathogenic —
RS3743930 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS374394434 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS374394451 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 12
RS374394719 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374395918 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS374396138 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS374396452 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS374396492 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS374397125 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS374397612 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS374398608 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS374399939 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS374400438 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Senior-Loken syndrome 8
RS374400491 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374401174 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS374402066 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS374402169 POMP Health Risk Conflicting classifications of pathogenicity —
RS374402209 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374403400 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS374403477 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS374403765 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS374403946 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS374404353 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS374404615 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS374404992 ABCA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS374405802 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Myopathy
RS374406494 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS374407543 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, SEPSECS-related disorder
RS374408098 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS374408168 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS374408615 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374409854 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS374410454 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS374410829 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS374411074 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 9
RS374411396 KCNJ13 Health Risk Conflicting classifications of pathogenicity —
RS374411400 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS374411782 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS374412171 MECOM Health Risk Conflicting classifications of pathogenicity MECOM-related disorder, Inborn genetic diseases
RS374412819 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS374413679 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS374415657 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS374415755 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS374417695 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder
RS374417779 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS374417889 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS374418354 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS374418866 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS374419129 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374419716 MMP13 Health Risk Conflicting classifications of pathogenicity —
RS374419983 PLEC Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C
RS374420253 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS374420996 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374421488 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder
RS374423962 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS374424323 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS374424738 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS374425261 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS374425727 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS374425919 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS374425976 DHX30 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374426285 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS374426973 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS374427541 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS374427586 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alport syndrome
RS374429170 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS374429328 PAX3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Craniofacial-deafness-hand syndrome
RS374429343 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS374430641 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS374431043 FBXL3 Health Risk Pathogenic Intellectual disability, short stature
RS374431061 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS374431961 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, Inborn genetic diseases
RS374432034 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS374432699 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS374434131 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS374434303 PNPLA6 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Dysarthria
RS374434751 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS374435098 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS374435577 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases
RS374437749 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS374438347 HSD17B10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374438652 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS374439635 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS374439921 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS374440563 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, DVL1-related disorder
RS374440818 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS374441355 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Meacham syndrome
RS374441472 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS374443596 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS374443634 PUS3 Health Risk Pathogenic/Likely pathogenic Heart, malformation of
RS374443915 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Rheumatoid arthritis
RS374444254 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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