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
RS201841190 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8, autosomal dominant
RS201841311 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201841403 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS201841428 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Alport syndrome
RS201842071 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS201842512 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS201842633 EARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases
RS201842856 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS201842998 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS201843484 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS201843717 BCORL1 Health Risk Conflicting classifications of pathogenicity Shukla-Vernon syndrome, BCORL1-related disorder
RS201844078 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS201844235 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS201844450 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Elliptocytosis 2
RS201844706 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS201845149 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS201845154 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201845396 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201845548 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS201845569 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS201845641 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS201845656 CIB2 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS201845777 HDAC6 Health Risk Conflicting classifications of pathogenicity HDAC6-related disorder, HDAC6-related disorder
RS201845920 MID1 Health Risk Conflicting classifications of pathogenicity —
RS201846240 STAG1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 47
RS201846272 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS201846997 TFAM Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), TFAM-related disorder
RS201847088 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS201847585 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS201847741 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS201847759 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder
RS201847956 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS201848700 SCLT1 Health Risk Pathogenic —
RS201848778 STARD8 Health Risk Conflicting classifications of pathogenicity —
RS201848822 LNPK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201848852 ZNF687 Health Risk Conflicting classifications of pathogenicity —
RS201849065 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS201849167 BDP1 Health Risk Conflicting classifications of pathogenicity BDP1-related disorder, BDP1-related disorder
RS201849355 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS201849388 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS201849460 AHSG Health Risk Pathogenic Alopecia-intellectual disability syndrome 1, Alopecia-intellectual disability syndrome 1
RS201849628 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, Inborn genetic diseases
RS201849681 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases
RS201850090 CLCN1 Health Risk Likely pathogenic —
RS201850378 MIB1 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 7, Left ventricular noncompaction 7
RS201850644 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS201850668 FAT1 Health Risk Conflicting classifications of pathogenicity —
RS201851204 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS201851221 OTOF Health Risk Conflicting classifications of pathogenicity —
RS201851277 EFL1 Health Risk Conflicting classifications of pathogenicity —
RS201851359 GRM5 Health Risk Conflicting classifications of pathogenicity —
RS201851851 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201851934 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201852049 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS201852557 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201852643 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201852681 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201853046 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS201853168 CYP4F22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201853183 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CC2D1A-related disorder
RS201853273 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201853552 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201853697 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS201853975 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS201853984 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS201854030 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201854371 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201854785 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201854804 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201854898 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS2018549058 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS201855218 PLEC Health Risk Conflicting classifications of pathogenicity 6 conditions, Epidermolysis bullosa simplex with nail dystrophy
RS201855243 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS201855245 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS201855351 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS201855399 TALDO1 Health Risk Conflicting classifications of pathogenicity —
RS201855435 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, Inborn genetic diseases
RS201855602 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS201855906 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, See cases
RS201856260 ERAP1 Health Risk Conflicting classifications of pathogenicity —
RS201856473 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS201856732 TEP1 Health Risk Conflicting classifications of pathogenicity —
RS201856772 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS201857158 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201857437 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS201857541 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201857647 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201857884 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS201857960 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS201858128 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS201858651 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201858689 CASR Health Risk Conflicting classifications of pathogenicity Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1
RS201858937 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201858974 FBXL4 Health Risk Pathogenic —
RS201858985 TBC1D1 Health Risk Conflicting classifications of pathogenicity TBC1D1-related disorder, Inborn genetic diseases
RS201859109 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
RS201859188 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder
RS201859314 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201859710 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Autoinflammatory syndrome
RS201860175 GJB4 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 2, Inborn genetic diseases
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