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
RS774714334 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS774714794 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS774715089 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS774715573 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS774715645 CEP295 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS774716138 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS774716336 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS774718977 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS774719063 BIRC3 Health Risk Likely pathogenic Regional enteritis, Regional enteritis
RS774719700 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS774720054 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS774721955 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774722200 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS774722438 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS774722673 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS774723292 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS774723315 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774724720 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS774726424 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS774727624 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774727760 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS774728139 TSPAN12 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS774728696 CFI Health Risk Likely pathogenic —
RS774728793 KIF11 Health Risk Pathogenic —
RS774729848 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS774730061 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS774730309 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS774730386 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS774730633 DNAJC21 Health Risk Pathogenic —
RS774730754 SCO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 4
RS774731682 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS774732235 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS774732579 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774732610 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS77473319 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS774733373 EIF2B5 Health Risk Conflicting classifications of pathogenicity —
RS774733445 STAG3 Health Risk Pathogenic Premature ovarian failure, Premature ovarian failure
RS774734592 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS774735002 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS774735121 PTPN14 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS774736480 B4GALNT1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS774736686 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS774737304 CYP17A1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase
RS774738181 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS774738544 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774738702 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS774738874 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS774739275 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS774739457 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS774740761 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS774742340 DSP Health Risk Conflicting classifications of pathogenicity 6 conditions, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS774743325 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS774744607 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774744705 VLDLR Health Risk Likely pathogenic —
RS774745372 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS774746175 C2CD3 Health Risk Likely pathogenic —
RS774746221 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS774746409 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS774747998 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774751096 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS774751337 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS774753202 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774753302 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774753571 MRTFA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 66, Immunodeficiency 66
RS774753616 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS774754436 DPAGT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS774754863 FBN1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Marfan syndrome
RS774755041 MERTK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS774755297 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS774755404 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774755464 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS774756042 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS774757602 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774758044 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774758124 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS774758389 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS774759345 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome
RS774759689 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS774760728 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774761076 DPH1 Health Risk Conflicting classifications of pathogenicity Developmental delay with short stature, dysmorphic facial features
RS774761672 FYCO1 Health Risk Likely pathogenic Cataract 18, Cataract 18
RS774763527 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS774763657 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS774764179 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774765029 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS774765473 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS774766261 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS774766702 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774767092 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS774768015 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774768199 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS774768228 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS774769004 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS774769014 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS774769813 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS774771496 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS774772178 OPTN Health Risk Pathogenic/Likely pathogenic Glaucoma 1, open angle
RS774772480 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS774772554 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS774773010 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
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