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
RS375357016 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS375357230 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS375358300 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS375358318 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS375358457 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Retinitis pigmentosa
RS375360480 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS375361462 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375362627 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS375363057 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS3753631 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS375363190 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375363526 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS375363943 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Inborn genetic diseases
RS375364108 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS375364242 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 2, ABCG5-related disorder
RS375365167 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS375365480 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Retinitis pigmentosa
RS375366303 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS375368824 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375370418 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occult macular dystrophy
RS375371096 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS375371340 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS375371982 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS375372676 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375374658 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375374735 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS375374971 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS375375167 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis
RS375376103 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS375376258 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS375377003 COL4A5 Health Risk Conflicting classifications of pathogenicity Disease of glomerular basement membrane, X-linked Alport syndrome
RS375378529 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375378535 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS375379466 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS375379796 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MACF1-related disorder
RS375380005 BFSP2 Health Risk Conflicting classifications of pathogenicity Cataract 12 multiple types, Cataract 12 multiple types
RS375380237 KIF23 Health Risk Conflicting classifications of pathogenicity —
RS375380414 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS375380772 TBX1 Health Risk Conflicting classifications of pathogenicity TBX1-related disorder, Cardiovascular phenotype
RS375380880 SLC6A17 Health Risk Pathogenic Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
RS375381133 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS375381230 CDC14A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS375383329 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS3753842 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS375385439 GDNF Health Risk Conflicting classifications of pathogenicity GDNF-related disorder, GDNF-related disorder
RS375385616 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375387233 POR Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS375389167 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Inborn genetic diseases
RS375389310 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS375390467 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS375390523 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS375391365 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS375391530 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS375391602 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS375391662 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS375391843 CYP1B1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Glaucoma 3A
RS375392547 MRPL39 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Combined oxidative phosphorylation deficiency 59
RS375393416 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS375393527 SLC49A4 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS375393735 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS375393965 ZFHX4 Health Risk Conflicting classifications of pathogenicity —
RS375394001 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS375395837 OTOF Health Risk Conflicting classifications of pathogenicity —
RS375396155 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS375396225 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375396766 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS375396787 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS375398029 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS375398118 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375398247 SURF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS375398395 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375399419 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS375399468 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystine urolithiasis, Cystine urolithiasis
RS375399631 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS375400056 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS375400337 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS375400399 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS375400873 RUBCN Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
RS375401655 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS375401722 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS375401743 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS375401970 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS375401971 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS375401977 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders
RS375402043 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS375402078 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS375403059 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375403626 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS375404697 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS375404772 RIN2 Health Risk Conflicting classifications of pathogenicity —
RS375406423 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS375406865 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS375407595 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS375408288 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS375408791 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS375408871 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS375410133 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS375411220 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375411293 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 41
RS375411469 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C
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