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
RS747258045 CNGB1 Health Risk Conflicting classifications of pathogenicity —
RS747259064 ADAM22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 61
RS747260038 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS747261340 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS747262065 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS747262113 HOXA13 Health Risk Conflicting classifications of pathogenicity HOXA13-related disorder, Guttmacher syndrome
RS74726213 SIM1 Health Risk Conflicting classifications of pathogenicity Oromandibular-limb hypogenesis spectrum, Obesity due to SIM1 deficiency
RS747262651 TPK1 Health Risk Conflicting classifications of pathogenicity Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS747263275 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS747265823 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747266069 TRIM32 Health Risk Pathogenic Sarcotubular myopathy, Bardet-Biedl syndrome
RS747266387 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS747267404 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS747267907 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747268471 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS747269745 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS747270146 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS747270555 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS747271385 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS747271394 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS747271930 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS747272462 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS747272625 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS747272786 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS747273828 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS747274181 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS747274874 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS747274959 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747275587 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS747275658 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS747275713 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS747276038 TK2 Health Risk Conflicting classifications of pathogenicity —
RS747277541 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS747277579 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747279627 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, OTX2-related disorder
RS747281324 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS747281440 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS747282057 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS747282707 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS747283283 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS747283967 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS747284213 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS747284477 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS747284663 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS747284798 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease type I
RS747285235 SIGMAR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS747285262 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS747286271 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS747286444 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS747287311 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747288279 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, COL4A5-related disorder
RS747288455 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS747288805 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Macular degeneration
RS747289205 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS747289468 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747289672 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
RS747289875 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS747290752 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS747291227 JARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS747291494 GAN Health Risk Pathogenic/Likely pathogenic Giant axonal neuropathy 1, Inborn genetic diseases
RS747291682 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS747291865 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS747292260 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747294604 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747297291 BSCL2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS747298346 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS747298351 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS747299117 CHD3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS747300179 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS747301279 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS747301309 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS747301529 FLG Health Risk Pathogenic Dermatitis, atopic
RS747301663 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS747301994 COL17A1 Health Risk Pathogenic —
RS747302288 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS747302299 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS747303076 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS747303322 HMOX1 Health Risk Conflicting classifications of pathogenicity —
RS747304080 DST Health Risk Pathogenic/Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS747305045 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS747305214 ZNF408 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747305733 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS747305746 TP63 Health Risk Conflicting classifications of pathogenicity 7 conditions, TP63-Related Spectrum Disorders
RS747306849 MCM3AP Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, autosomal recessive
RS747310070 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS747310967 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS747311061 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS747311078 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747312156 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related disorder
RS747312241 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS747312255 DRD2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS747312867 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747313011 AARS2 Health Risk Pathogenic AARS2-related disorder, AARS2-related disorder
RS74731340 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type II
RS747313972 SALL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculootoradial syndrome
RS747315554 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS747316677 GUF1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 40
RS747317429 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Hereditary cancer
RS747317946 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS747318789 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
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