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
RS750775588 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS750777196 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750777752 SPRED1 Health Risk Pathogenic Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS750777791 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS750777955 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome
RS750777960 VAC14 Health Risk Conflicting classifications of pathogenicity —
RS750778014 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Diabetes mellitus
RS750778630 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS750779804 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS750780241 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS750780415 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750780742 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS750781027 INPP5K Health Risk Pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS750781063 TBCE Health Risk Pathogenic Encephalopathy, progressive
RS750781606 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 5A
RS750782115 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS750782462 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS750782778 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS750783717 AP4M1 Health Risk Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS750784794 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS750784979 LRP5 Health Risk Likely pathogenic —
RS750785243 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS750785483 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS750785552 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS750785582 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750787383 NFAT5 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS750788947 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS750788949 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Wrinkly skin syndrome, Cutis laxa with osteodystrophy
RS750789180 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS750789505 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS750791263 LRP5 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS750791932 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata
RS750792245 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS750792793 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS750793712 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS750794400 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS750794851 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS750796059 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS750796277 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750796687 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS750797779 SYNE4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 76
RS750797892 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS750797985 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS750798165 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
RS750799705 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS750799861 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS750800690 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS750801758 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS750801787 RFX7 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 71
RS750801808 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750803038 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750803248 CDH23 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Usher syndrome type 1D
RS750803388 GLDN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS750803516 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Hyperekplexia 2
RS750804063 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS750804948 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS750805163 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS750806023 CNGA3 Health Risk Pathogenic —
RS750806089 TTN Health Risk Conflicting classifications of pathogenicity —
RS750806151 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS750806202 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS750806272 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS750807406 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS750807433 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS750809033 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750809787 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS750811263 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS750811871 KCTD7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Progressive myoclonic epilepsy type 3
RS750812086 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750812195 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS750814219 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, Hearing loss
RS750815004 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS750815208 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS750815238 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS750815297 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS750815369 OTULIN Health Risk Conflicting classifications of pathogenicity —
RS750815560 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS750815592 IRF6 Health Risk Conflicting classifications of pathogenicity Popliteal pterygium syndrome, Van der Woude syndrome
RS750815710 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS750816527 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS750817164 HPGD Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS750817344 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750817485 POP1 Health Risk Pathogenic —
RS750818039 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS750819290 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS750819521 PHYH Health Risk Conflicting classifications of pathogenicity —
RS750819571 CYB5R3 Health Risk Likely pathogenic Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS750820522 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS750821412 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS750822014 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS750822703 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750823043 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS750823506 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS750824195 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS750824848 MAD1L1 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
RS750825184 NFKB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750825686 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750826324 NLGN4X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750826355 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS750827325 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
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