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
RS1307726290 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1307734637 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1307758243 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1307768306 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1307785790 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1307802785 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS1307805145 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1307815197 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1307850717 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1307858265 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1307868506 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1307879089 TCTN1 Health Risk Likely pathogenic —
RS13078881 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases
RS1307889134 TBX20 Health Risk Pathogenic —
RS1307891196 CACNA2D2 Health Risk Likely pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS1307895700 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1307896663 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1307901642 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1307924861 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1307942060 TNFRSF11B Health Risk Pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS1307944675 HSD17B4 Health Risk Pathogenic Perrault syndrome 1, Perrault syndrome 1
RS1307964821 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1307969607 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1307972506 FGD4 Health Risk Likely pathogenic —
RS1307980669 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1307997067 TAX1BP3 Health Risk Conflicting classifications of pathogenicity TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy, Primary familial dilated cardiomyopathy
RS1308016430 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS1308019449 POLH Health Risk Pathogenic —
RS1308023279 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Inborn genetic diseases
RS1308038651 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS1308048353 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 5
RS1308058909 SH3TC2 Health Risk Pathogenic —
RS1308067070 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1308076031 GLE1 Health Risk Pathogenic —
RS1308076642 ORC1 Health Risk Pathogenic —
RS1308093660 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases
RS1308116371 SLC19A2 Health Risk Pathogenic —
RS1308121771 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1308150896 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1308155037 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1308182502 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1308191949 FLVCR1 Health Risk Pathogenic —
RS1308193541 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS13082063 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1308211020 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS1308212854 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS1308226776 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1308253602 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1308270290 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS1308325707 IMPA1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 59
RS1308342676 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1308348441 RDX Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS1308351316 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1308362424 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1308367710 GLT8D1 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1308391041 INPP5E Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1308431693 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1308442327 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1308447836 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1308457240 NALCN Health Risk Likely pathogenic NALCN-related disorder, NALCN-related disorder
RS1308472429 IDH3B Health Risk Likely pathogenic —
RS1308500116 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1308509155 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS1308509257 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1308510231 EDNRB Health Risk Pathogenic —
RS1308517887 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1308530637 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS1308539880 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1308550551 TERB1 Health Risk Pathogenic Spermatogenic failure 60, Spermatogenic failure 60
RS1308555812 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1308562238 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1308562697 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS1308566542 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1308581878 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1308589918 LDB3 Health Risk Pathogenic Cardiomyopathy, dilated
RS1308598847 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1308599194 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1308616721 VAMP1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic ataxia 1
RS1308639482 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1308650932 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1308669737 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1308677161 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS1308702971 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome
RS1308707703 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1308747530 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1308751738 LMX1B Health Risk Likely pathogenic —
RS1308764899 FA2H Health Risk Likely pathogenic Tip-toe gait, Cerebellar atrophy
RS1308784980 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1308816724 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1308826929 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1308843878 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1308873617 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1308924086 USH2A Health Risk Pathogenic —
RS1308946694 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1308950771 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1308954605 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS1308955642 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1308964182 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1308975705 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1308995894 SLC33A1 Health Risk Pathogenic Huppke-Brendel syndrome, Huppke-Brendel syndrome
« Prev 1 ... 362 363 364 365 366 367 368 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →