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
RS150288967 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS150289689 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS150290184 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS150290429 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS150290493 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150290595 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS150290957 SRP54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150291837 C2CD3 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Jeune thoracic dystrophy
RS150292051 AQP5 Health Risk Conflicting classifications of pathogenicity —
RS150293706 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS150293825 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS150293853 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Inborn genetic diseases
RS150295026 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS150296134 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS150296212 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE
RS150296373 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS150298985 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS150299874 L2HGDH Health Risk Pathogenic/Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS150301281 PSEN1 Health Risk Conflicting classifications of pathogenicity Acne inversa, familial
RS150303433 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1O
RS150303579 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS150303834 DGAT2 Health Risk Conflicting classifications of pathogenicity —
RS150303869 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS150303901 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS150304121 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS150305320 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS150305490 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, COL4A5-related disorder
RS150306354 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS150306543 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Seizure
RS150307169 KIF23 Health Risk Conflicting classifications of pathogenicity KIF23-related disorder, KIF23-related disorder
RS150308912 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS150309395 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS150309559 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS150309662 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150310121 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS150310143 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS150310830 GLIS3 Health Risk Conflicting classifications of pathogenicity Congenital aniridia, Neonatal diabetes mellitus with congenital hypothyroidism
RS150311153 EGF Health Risk Conflicting classifications of pathogenicity EGF-related disorder, EGF-related disorder
RS150311212 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS150311870 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS150312046 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS150312425 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS150312765 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS150313058 COQ6 Health Risk Conflicting classifications of pathogenicity —
RS150313156 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS150313260 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
RS150314086 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS150314171 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS150314450 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolcott-Rallison dysplasia
RS150314805 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS150316347 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS150317197 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS150317593 LINS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150317928 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS150318400 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS150318692 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS150319057 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS150319104 DKC1 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Dyskeratosis congenita
RS150321693 AMPD3 Health Risk Conflicting classifications of pathogenicity Erythrocyte AMP deaminase deficiency, Erythrocyte AMP deaminase deficiency
RS150321966 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases
RS150326473 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS150326995 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS150327222 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS150327768 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS150327858 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS150328266 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS150328574 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS150328847 ERCC6L2 Health Risk Conflicting classifications of pathogenicity ERCC6L2-related disorder, Inborn genetic diseases
RS150328852 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, KMT2A-related disorder
RS150329686 IGSF10 Health Risk Conflicting classifications of pathogenicity IGSF10-related disorder, IGSF10-related disorder
RS150331292 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy
RS150331660 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS150331740 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS150331976 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150332116 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS150333718 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS150334315 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS150334927 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS150334966 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS150335023 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS150335311 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS150335599 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150335679 EPHA2 Health Risk Conflicting classifications of pathogenicity EPHA2-related disorder, Colon adenocarcinoma
RS150336658 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS150339335 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS150339369 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS150340150 SLC4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant distal renal tubular acidosis
RS150340436 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS150343359 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS150343794 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Connective tissue disorder
RS150343959 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS150344113 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, GHSR-related disorder
RS150344223 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS150344737 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, GAN-related disorder
RS150345121 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150346282 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS150348015 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS150348863 LINS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150349588 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS150351766 CYP7A1 Health Risk Conflicting classifications of pathogenicity CYP7A1-related disorder, CYP7A1-related disorder
« Prev 1 ... 736 737 738 739 740 741 742 ... 4509 Next »

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

Get Started Free →