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
RS2125026627 XPC Health Risk Pathogenic —
RS2125026697 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125029430 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2125032555 UNC80 Health Risk Pathogenic —
RS2125032674 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2125034187 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125035374 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125035405 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125035511 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125035588 XPC Health Risk Likely pathogenic —
RS2125035636 XPC Health Risk Pathogenic —
RS2125035850 XPC Health Risk Pathogenic —
RS2125035926 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125035931 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125038490 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS2125039231 XPC Health Risk Pathogenic —
RS2125040590 XPC Health Risk Pathogenic —
RS2125042060 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125043277 XPC Health Risk Likely pathogenic —
RS2125045819 XPC Health Risk Pathogenic —
RS2125046000 XPC Health Risk Pathogenic —
RS2125046287 XPC Health Risk Likely pathogenic —
RS2125048080 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2125048104 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS2125048161 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS2125053499 XPC Health Risk Pathogenic —
RS2125058823 TAMM41 Health Risk Pathogenic Dysphagia, Bilateral ptosis
RS2125059701 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125059924 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS2125060144 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125062092 STAT1 Health Risk Pathogenic Chronic mucocutaneous candidiasis, Chronic mucocutaneous candidiasis
RS2125062317 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2125062900 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS2125069514 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2125071982 F13B Health Risk Pathogenic Factor XIII, b subunit
RS2125072480 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125072527 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125075036 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS2125075054 STAT1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2125076610 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS2125076614 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125077465 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125077559 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2125081509 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2125081666 COLQ Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2125081805 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2125082259 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2125082935 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2125085333 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125085542 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125086228 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2125086401 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125087894 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125088445 ASPM Health Risk Conflicting classifications of pathogenicity —
RS2125088498 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125089059 COLQ Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2125089093 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS2125089566 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2125093294 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125093662 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125093720 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125094032 ASPM Health Risk Likely pathogenic —
RS2125094632 ASPM Health Risk Pathogenic —
RS2125095183 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125095244 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125095313 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2125095360 ASPM Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2125096196 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2125096288 ASPM Health Risk Pathogenic —
RS2125096622 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125096662 ASPM Health Risk Pathogenic —
RS2125096695 ASPM Health Risk Pathogenic —
RS2125100684 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125103406 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125107452 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125107857 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125107877 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2125111250 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125111475 SETD5 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2125112411 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125113678 ASPM Health Risk Pathogenic —
RS2125113775 ASPM Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2125113873 ASPM Health Risk Pathogenic Abnormality of the nervous system, Microcephaly 5
RS2125114846 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2125115880 SATB1 Health Risk Conflicting classifications of pathogenicity Developmental delay with dysmorphic facies and dental anomalies, Inborn genetic diseases
RS2125115970 ASPM Health Risk Pathogenic —
RS2125122990 SATB1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2125123160 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125123167 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2125123704 SATB1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2125124343 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125124629 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125124755 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125124781 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125124854 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125124863 VHL Health Risk Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125125032 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125125069 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125125087 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125125103 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
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