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
RS2153739384 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153741176 NRCAM Health Risk Conflicting classifications of pathogenicity NRCAM-related disorder, NRCAM-related disorder
RS2153749469 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153749819 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2153752710 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153755942 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153773364 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2153783491 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2153791497 CACNA1C Health Risk Pathogenic —
RS2153792212 KCNMA1 Health Risk Likely pathogenic Liang-Wang syndrome, Liang-Wang syndrome
RS2153792334 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2153795389 NDUFS3 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2153806528 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153808479 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153808894 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153809530 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2153811844 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153825777 UNC80 Health Risk Pathogenic —
RS2153826963 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153827732 UNC80 Health Risk Pathogenic —
RS2153828150 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153828826 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS2153829891 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153831497 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2153835962 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2153836342 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2153836962 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153837157 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153864590 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153871795 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153875539 NEB Health Risk Pathogenic —
RS2153875876 KCNMA1 Health Risk Pathogenic Liang-Wang syndrome, Liang-Wang syndrome
RS2153881466 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2153889881 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2153902749 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153902894 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903111 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903239 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903290 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903564 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903589 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153903647 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153903681 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153916116 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2153916214 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153916273 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153916450 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153916495 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153916498 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153916885 MPL Health Risk Likely pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153917033 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2153917100 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153917236 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153917276 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918495 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918515 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918730 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918764 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153918774 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918792 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153918800 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153918831 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153919240 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153919318 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153919319 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2153919390 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2153919403 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153919438 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2153920030 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2153923212 ELOVL1 Health Risk Pathogenic Ichthyotic keratoderma, spasticity
RS2153923874 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153923895 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153923925 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153924098 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153924986 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153925061 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153925181 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153925252 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153930361 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153930733 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153930856 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153930968 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153931339 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153931607 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153932173 SZT2 Health Risk Likely pathogenic —
RS2153932502 SZT2 Health Risk Pathogenic —
RS2153932585 SZT2 Health Risk Pathogenic —
RS2153934176 SZT2 Health Risk Pathogenic —
RS2153934979 SZT2 Health Risk Pathogenic —
RS2153935278 SZT2 Health Risk Likely pathogenic —
RS2153935420 SZT2 Health Risk Likely pathogenic Seizure, Seizure
RS2153935570 SZT2 Health Risk Pathogenic —
RS2153935815 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS2153935951 SZT2 Health Risk Pathogenic —
RS2153936018 SZT2 Health Risk Pathogenic —
RS2153936775 SZT2 Health Risk Likely pathogenic —
RS2153937126 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153939368 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153940243 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153940505 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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