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
RS752428321 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS752428475 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752428699 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS752429062 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS752429712 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS752429719 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752429735 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS752430880 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS752431578 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS752431673 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS752432041 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS752432156 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS752432261 SCNN1G Health Risk Conflicting classifications of pathogenicity Liddle syndrome 2, Pseudohypoaldosteronism
RS752432317 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS752433735 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS752434188 DNMT3A Health Risk Conflicting classifications of pathogenicity DNMT3A-related disorder, Inborn genetic diseases
RS752434998 HESX1 Health Risk Conflicting classifications of pathogenicity GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
RS752435825 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752436384 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752436391 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS752436924 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS752437276 C9 Health Risk Pathogenic/Likely pathogenic Age related macular degeneration 15, Complement component 9 deficiency
RS752439023 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS752440109 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS752440638 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS752441031 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS752441753 LARS1 Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS752442185 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS752442261 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS752443408 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, COL4A5-related disorder
RS752443893 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752444746 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS752447493 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS752448040 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS752448493 DDX11 Health Risk Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS752449341 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS752450605 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS752450678 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS752450856 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS752450983 C19orf12 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Intellectual disability
RS752452129 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752452590 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome 3b
RS752452731 PRKRA Health Risk Pathogenic/Likely pathogenic Dystonia 16, Dystonia 16
RS752452948 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752453368 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS752453717 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS752453773 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752455591 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS752457145 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS752457309 VPS13C Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Young-onset Parkinson disease
RS752457319 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS752458888 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS752459996 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS752460023 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS752460436 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS752461164 MYO5A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 1, MYO5A-related disorder
RS752461187 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, See cases
RS752462796 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Ovarian cancer
RS752463700 TTPA Health Risk Pathogenic —
RS752464745 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS752465293 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS752465579 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS752466285 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752468216 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS752469036 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS752469952 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudohypoaldosteronism type 2B
RS752470665 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS752472169 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome and related disorders
RS752473055 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS752473063 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS752473164 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS752473449 ABHD5 Health Risk Pathogenic —
RS752473648 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, LMF1-related disorder
RS752474843 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS752476527 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Long QT syndrome 3
RS752476855 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS752477271 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS752477890 MAX Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS752477959 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS752478345 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS752478645 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS752478913 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS752479330 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS752479889 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS752480853 FUCA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fucosidosis
RS752482499 SLC7A8 Health Risk Likely pathogenic Short stature, Short stature
RS752484607 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS752485540 SLC26A4 Health Risk Pathogenic —
RS752485547 LAMA2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS752485728 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS752487562 CHRNG Health Risk Pathogenic —
RS752487771 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS752488141 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS752488156 TPM4 Health Risk Pathogenic Bleeding disorder, platelet-type
RS752489470 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS752492512 RASGRP2 Health Risk Pathogenic/Likely pathogenic Abnormal platelet aggregation, Platelet-type bleeding disorder 18
RS752492830 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS752492870 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Limb-girdle muscular dystrophy
RS752493018 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS752493285 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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