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
RS757007819 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757007907 LPIN1 Health Risk Conflicting classifications of pathogenicity —
RS757008581 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS757008969 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757010758 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS757010863 SLC30A8 Health Risk Conflicting classifications of pathogenicity —
RS757010959 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757011098 NEK9 Health Risk Pathogenic NEK9-related lethal skeletal dysplasia, NEK9-related lethal skeletal dysplasia
RS757011771 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS757011861 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75701196 COG6 Health Risk Likely pathogenic COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS757012294 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS757012840 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS757012933 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS757013679 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS757013900 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757015172 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS757016287 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS757018821 TTN Health Risk Conflicting classifications of pathogenicity —
RS757018930 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS757019335 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS757019364 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS757020167 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS757020181 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS757021413 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757021648 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS757023317 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS757025272 EMC1 Health Risk Pathogenic Retinal dystrophy, Cerebellar atrophy
RS757026025 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS757026184 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS757027394 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS757027463 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757027638 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS757027644 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757027813 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS757028149 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS757028268 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS757030384 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757030913 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS757031050 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS757031567 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757032044 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS757032537 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis 2, isolated
RS757033341 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2
RS757033378 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS757033443 ANK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757033561 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS757033996 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS757034536 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS757034687 SIN3A Health Risk Pathogenic —
RS757034771 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS757034991 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS757035494 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS757037466 ERBB2 Health Risk Conflicting classifications of pathogenicity —
RS757040670 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS757040733 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS757040754 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS757041809 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS757042397 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757042460 SGPL1 Health Risk Pathogenic —
RS757043077 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS757043221 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS757044850 HNF1B Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS757045433 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS757045842 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4
RS757046319 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS757046360 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS757047748 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757049933 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS757050033 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS757050478 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757050909 DNAH9 Health Risk Pathogenic —
RS757051221 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS757051244 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS757051385 DDR2 Health Risk Conflicting classifications of pathogenicity —
RS757051494 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS757051705 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS757052602 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS757053149 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757053706 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS757053954 CFI Health Risk Pathogenic/Likely pathogenic Age related macular degeneration 13, Factor I deficiency
RS757053983 KRT25 Health Risk Conflicting classifications of pathogenicity —
RS757055217 COL17A1 Health Risk Pathogenic —
RS757055499 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS757055720 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757056658 RECQL Health Risk Conflicting classifications of pathogenicity —
RS757057136 DNAH9 Health Risk Pathogenic —
RS757057677 GRM6 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS757057811 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS757059523 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
RS757060348 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS757060689 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS757060708 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757061042 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS757061289 SLC5A2 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS757062073 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS757063739 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS757064470 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS757064799 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS757065157 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
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