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
RS757928590 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis
RS757929417 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS757929762 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757930681 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS757930862 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS757931203 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS757932794 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757933716 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS757933953 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS757934485 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS757934797 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS757935183 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS757935663 RSPH3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS757937208 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS757938047 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS757938814 SNORA31 Health Risk risk factor Encephalopathy, acute
RS757938946 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757939047 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS757939935 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS757940030 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757940841 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS757944456 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757944511 AEBP1 Health Risk Likely pathogenic —
RS757946184 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757946548 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757946618 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS757946752 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS757946805 PAX6 Health Risk Conflicting classifications of pathogenicity Coloboma of optic nerve, Coloboma of optic nerve
RS757946905 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS757948524 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS757949849 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS757950857 PPA2 Health Risk Conflicting classifications of pathogenicity —
RS757953057 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS757953549 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Congenital factor V deficiency
RS757953605 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS757954108 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS757955092 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS757956232 FLG Health Risk Pathogenic —
RS757957327 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS757957389 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757957751 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757958473 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757958943 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS757960108 OSBPL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757960224 SLC24A5 Health Risk Likely pathogenic —
RS757960389 ADAMTS18 Health Risk Likely pathogenic —
RS757960938 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS757960956 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS757961130 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS757962189 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757963162 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757963570 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS757964072 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS757964910 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS757966746 AHCY Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS757967016 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS757967424 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS757968278 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS757968518 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS757969015 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS757969745 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS757969875 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS757970149 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757970256 CAMTA1 Health Risk Pathogenic —
RS757971589 SMAD4 Health Risk Conflicting classifications of pathogenicity Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS757971917 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS757972260 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS757972600 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS757972700 ALS2 Health Risk Pathogenic/Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS757972943 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS757973864 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS757974017 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS757974161 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS757974800 CA12 Health Risk Likely pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS757975752 COX15 Health Risk Pathogenic —
RS757976244 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS757976755 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS757976892 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis
RS757977017 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS757977781 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS757978333 CARS1 Health Risk Pathogenic Microcephaly, developmental delay
RS757978377 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757979350 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS757979946 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757980886 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757981280 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS757982518 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS757982552 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS757982865 NDUFA2 Health Risk Pathogenic Cystic Leukoencephalopathy, Mitochondrial complex I deficiency
RS757982914 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757983774 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS757984551 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS757984572 POMT1 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly, Abnormal brainstem morphology
RS757985238 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS757985338 EIF2B1 Health Risk Pathogenic —
RS757985743 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS757986569 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS757987101 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Colon adenocarcinoma
RS757987511 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757987823 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
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