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
RS774966330 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS774967736 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS774968087 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774968533 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774968843 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS774970817 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS774971089 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS774971411 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS774971794 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS774972059 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS774973367 ZEB1 Health Risk Pathogenic —
RS774975279 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS774976112 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myofibrillar myopathy 4
RS774976459 SBDS Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Shwachman-Diamond syndrome 1
RS774976760 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS774977350 ERCC2 Health Risk Pathogenic —
RS774978209 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774979316 COL2A1 Health Risk Pathogenic —
RS774979481 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS774979651 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS774980346 QARS1 Health Risk Conflicting classifications of pathogenicity —
RS774980656 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS77498130 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS774982916 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS774983492 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS774983507 CYP4F22 Health Risk Pathogenic —
RS774985604 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS774985655 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774986147 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS774986160 RAB27A Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Griscelli syndrome type 2
RS774987214 NUBPL Health Risk Conflicting classifications of pathogenicity NUBPL-related disorder, Mitochondrial complex I deficiency
RS774987234 ABCC2 Health Risk Pathogenic —
RS774987863 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS774988063 ARSG Health Risk Conflicting classifications of pathogenicity —
RS774988515 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS774989117 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774989816 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS774989939 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, SERPINI1-related disorder
RS774989997 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS774990809 S1PR2 Health Risk Conflicting classifications of pathogenicity —
RS774990944 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS774993357 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS774993483 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS774994149 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS774995085 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS774995221 PCNT Health Risk Pathogenic —
RS774995570 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS774995592 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774995635 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS774996068 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774996406 RASGRP2 Health Risk Pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS774997460 EYA1 Health Risk Pathogenic EYA1-related disorder, EYA1-related disorder
RS774999439 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS774999737 COL18A1 Health Risk Pathogenic —
RS775000504 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS775000989 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS775001123 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS775001669 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS775002004 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775002804 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775003113 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS775004286 MEGF8 Health Risk Likely pathogenic Craniosynostosis syndrome, Polydactyly
RS775004895 SKIC2 Health Risk Pathogenic —
RS775005099 ATP1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775005184 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS775005766 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS775006915 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS775006954 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS775007768 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS775007929 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS775008062 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS775008954 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS775009783 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS775010915 TYRP1 Health Risk Pathogenic/Likely pathogenic —
RS775011475 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS775011495 GLDN Health Risk Pathogenic/Likely pathogenic Lethal congenital contracture syndrome 11, Breathing dysregulation
RS775012519 TBXAS1 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS775013186 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS775013414 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775014401 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS775014444 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS775015070 NKX2-1 Health Risk Pathogenic/Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS775015157 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS775015373 FIG4 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS775015862 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS775018351 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS775018500 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS775019409 PMP22 Health Risk Pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease
RS775020161 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS775020273 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS775021214 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS775023150 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS775023310 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS775024070 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS775024756 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS775026712 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related disorder
RS775028128 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS775029664 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS775030825 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775030992 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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