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
RS1593936493 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593936506 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593936528 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593936593 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593936782 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593936840 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593936898 BRCA2 Health Risk Pathogenic —
RS1593936980 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593937245 BRCA2 Health Risk Pathogenic —
RS1593937297 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593937350 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593937365 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593937758 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593938133 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1593996210 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1593996563 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1593996636 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594013989 DNAJC3 Health Risk Pathogenic Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS1594078334 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS1594088780 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS1594090133 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594095223 THSD1 Health Risk Pathogenic Aneurysm, intracranial berry
RS1594099731 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594100988 IFT88 Health Risk Conflicting classifications of pathogenicity Rod-cone dystrophy, Rod-cone dystrophy
RS1594113653 COL4A2 Health Risk Pathogenic Porencephaly 2, Porencephaly 2
RS1594129609 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS1594130666 CHAMP1 Health Risk Pathogenic —
RS1594131663 CHAMP1 Health Risk Likely pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS1594131992 CHAMP1 Health Risk Likely pathogenic —
RS1594132583 CHAMP1 Health Risk Pathogenic —
RS1594134160 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594146891 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594160545 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1594162606 NBEA Health Risk Likely pathogenic NBEA-related developmental delay and generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS1594168638 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594168705 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS1594175453 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1594180177 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1594180201 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Leber congenital amaurosis 6
RS1594202505 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1594203796 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1594204203 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1594204748 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Leber congenital amaurosis 6
RS1594207573 GNPTAB Health Risk Pathogenic —
RS1594210754 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594210760 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594210932 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594211051 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594211244 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594211334 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594211911 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS1594212468 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594212582 ORAI1 Health Risk Likely pathogenic Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS1594213713 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594214013 RPGRIP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1594214799 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1594218809 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594218864 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594219498 PIBF1 Health Risk Pathogenic Joubert syndrome 33, Joubert syndrome 33
RS1594224781 RPGRIP1 Health Risk Pathogenic Retinitis pigmentosa, Cone-rod dystrophy 13
RS1594242785 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1594246708 NRL Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1594269995 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS1594280740 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Retinal dystrophy
RS1594280914 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Cone-rod dystrophy 13
RS1594290376 ZIC2 Health Risk Likely pathogenic —
RS1594290658 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594291863 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594291868 ZIC2 Health Risk Likely pathogenic Holoprosencephaly sequence, Microcephaly
RS1594292057 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594313040 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1594327007 CHD8 Health Risk Pathogenic —
RS1594329885 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1594331875 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1594334937 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1594340060 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1594344154 CHD8 Health Risk Pathogenic —
RS1594344233 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Autism spectrum disorder
RS1594344768 CHD8 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1594349020 CHD8 Health Risk Likely pathogenic —
RS1594351052 CHD8 Health Risk Pathogenic —
RS1594352987 CHD8 Health Risk Pathogenic —
RS1594368726 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS1594368753 NALCN Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1594382746 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594382930 FOXG1 Health Risk Pathogenic —
RS1594383056 FOXG1 Health Risk Pathogenic —
RS1594383151 FOXG1 Health Risk Likely pathogenic —
RS1594383538 FOXG1 Health Risk Pathogenic —
RS1594383576 FOXG1 Health Risk Pathogenic —
RS1594383648 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594383704 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, Rett syndrome
RS1594383773 FOXG1 Health Risk Pathogenic —
RS1594383798 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594384015 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594384127 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS1594384249 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1594389703 IRF9 Health Risk risk factor Immunodeficiency 65, susceptibility to viral infections
RS1594390415 IRF9 Health Risk risk factor Immunodeficiency 65, susceptibility to viral infections
RS1594403386 NKX2-1 Health Risk Likely pathogenic —
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