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
RS139801016 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Amyotrophic lateral sclerosis
RS139802143 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, History of neurodevelopmental disorder
RS1398034977 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS139803503 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS139803823 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS139804042 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS139804668 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS1398046806 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS139804851 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS139805032 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS139805483 FARSA Health Risk Likely pathogenic Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
RS139805921 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment
RS139807657 ANTXR1 Health Risk Conflicting classifications of pathogenicity Capillary infantile hemangioma, Capillary infantile hemangioma
RS139807832 AFF2 Health Risk Conflicting classifications of pathogenicity —
RS1398080802 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS139808535 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS139808557 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A
RS139809889 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS139809958 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1398103963 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS1398104994 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS1398107304 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1398108109 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS1398108964 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS139811103 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS1398113537 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS139811782 ALPL Health Risk Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity, Hypophosphatasia
RS139812523 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS139812589 MVD Health Risk Conflicting classifications of pathogenicity Porokeratosis 7, multiple types
RS1398130707 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS139814474 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS1398145840 HPS5 Health Risk Pathogenic —
RS139815340 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS139815570 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1398161401 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS139816673 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Congenital bile acid synthesis defect 3
RS1398173228 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS139817600 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS139818474 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS139818555 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS139819006 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Cerebral amyloid angiopathy
RS1398190721 PCYT1A Health Risk Pathogenic Lipodystrophy, congenital generalized
RS1398192783 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS139819353 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1398195482 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1398213134 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS139821565 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS139821724 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1398218251 MYORG Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS139822086 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS139822120 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS139822530 LRIT3 Health Risk Conflicting classifications of pathogenicity LRIT3-related disorder, Inborn genetic diseases
RS139822553 ITIH1 Health Risk Conflicting classifications of pathogenicity —
RS139823161 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS139824017 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1398243931 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS139825195 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS1398256620 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS139827025 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Uterine corpus endometrial carcinoma
RS1398278496 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS139827903 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1398281226 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS139828188 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS139828223 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1398284371 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1398284516 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 30
RS139828718 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS139829306 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3
RS139829321 BAAT Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS139830237 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1398317198 LOXHD1 Health Risk Pathogenic —
RS1398317449 AK2 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS139832082 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, SLC12A1-related disorder
RS1398320925 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS139832787 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS1398333169 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS139833874 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
RS1398340320 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS139834542 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139834687 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS139835890 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS1398363349 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS139836397 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS139836643 POLE Health Risk Conflicting classifications of pathogenicity —
RS1398367764 CEP250 Health Risk Pathogenic —
RS1398369804 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS139837168 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS1398373161 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS1398374184 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS139837673 CELSR3 Health Risk Conflicting classifications of pathogenicity Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
RS1398376742 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS1398380898 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS139838884 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1398395381 C8B Health Risk Likely pathogenic —
RS1398396879 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS139840338 TBCE Health Risk Pathogenic —
RS1398406959 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS139840790 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS139841572 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta
RS139841625 HDAC4 Health Risk Conflicting classifications of pathogenicity —
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