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
RS368989667 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS368989729 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS368989823 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS368989873 HARS2 Health Risk Conflicting classifications of pathogenicity —
RS368990224 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368990417 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS368990813 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS368992119 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS368992754 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS368992969 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS368993197 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS368995122 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS368995503 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Intellectual disability
RS368995630 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS368995644 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases
RS368995988 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Inborn genetic diseases
RS368996176 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS368996545 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS368996660 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS368996823 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid cancer
RS368997650 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS368998235 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS368998534 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS368998655 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS368998895 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368999712 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS369000939 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369001369 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS369001837 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS369002632 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369004633 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS369006637 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS369008702 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS369009264 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS369009290 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS369010440 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS369010851 TSPEAR Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS369012159 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS369012543 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS369012743 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS369012954 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369013440 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS369013539 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS369015359 TBX6 Health Risk Pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS369016031 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS369016553 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS369017115 VWF Health Risk Conflicting classifications of pathogenicity —
RS369017141 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS369017203 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS369018004 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS369019463 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369019618 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS369020126 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS369020197 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS369021714 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS369022150 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS369022159 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS369022247 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, COL2A1-related disorder
RS369023184 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS369023995 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS369024765 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS369025432 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS369025518 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS369026633 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS369026696 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369027010 KAT6B Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Hemorrhage
RS369028190 AP4E1 Health Risk Conflicting classifications of pathogenicity —
RS369029338 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS369030433 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS369032140 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS369032377 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS369033659 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS369033671 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS369033909 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS369034739 COL7A1 Health Risk Likely pathogenic 7 conditions, COL7A1-related disorder
RS369035155 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS369035370 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS369035792 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS369037463 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS369037495 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS369038187 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS369038766 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS369038814 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS369039003 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369039413 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS369039902 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS369040584 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, DYNC2H1-related disorder
RS369041815 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369042519 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369042931 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS369043488 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS369043620 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS369044605 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS369045579 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS369045614 FLNB Health Risk Conflicting classifications of pathogenicity —
RS369045696 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS369045809 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, Inborn genetic diseases
RS369046467 SRPX Health Risk Conflicting classifications of pathogenicity —
RS369049017 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 11
RS369049149 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
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