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
RS2545687862 LRP2 Health Risk Pathogenic —
RS2545688229 LRP2 Health Risk Likely pathogenic —
RS2545689085 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2545689094 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545689154 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545689194 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545689300 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545694414 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545694520 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545694567 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS2545698654 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS2545698940 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS2545699267 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS2545699853 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS25457 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2545700340 LRP2 Health Risk Likely pathogenic —
RS2545709621 ITGB4 Health Risk Pathogenic —
RS2545712483 OBSCN Health Risk Likely pathogenic OBSCN-related disorder, OBSCN-related disorder
RS2545717131 TLK2 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2545718479 LRP2 Health Risk Pathogenic —
RS2545720528 ITGB4 Health Risk Pathogenic —
RS2545721960 ITGB4 Health Risk Likely pathogenic —
RS2545722019 ITGB4 Health Risk Pathogenic —
RS2545722634 ITGB4 Health Risk Pathogenic —
RS2545728179 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2545730946 LRP2 Health Risk Likely pathogenic —
RS2545731855 ITGB4 Health Risk Likely pathogenic —
RS2545734366 LRP2 Health Risk Pathogenic —
RS2545737322 ITGB4 Health Risk Pathogenic —
RS2545739504 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545740842 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2545741027 ITGB4 Health Risk Pathogenic —
RS2545741796 CRYBA1 Health Risk Likely pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS2545746006 LRP2 Health Risk Pathogenic —
RS2545747164 ITGB4 Health Risk Pathogenic —
RS2545749649 ITGB4 Health Risk Pathogenic —
RS2545752835 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545752931 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset
RS2545753088 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545753136 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545753329 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545753525 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545753602 DYSF Health Risk Likely pathogenic —
RS2545754011 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545754867 ITGB4 Health Risk Pathogenic —
RS2545755076 LRP2 Health Risk Pathogenic —
RS2545755689 LRP2 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2545755699 ITGB4 Health Risk Pathogenic —
RS2545755749 ITGB4 Health Risk Pathogenic —
RS2545755925 ITGB4 Health Risk Pathogenic —
RS2545757536 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS2545765192 ITGB4 Health Risk Pathogenic —
RS2545765366 OBSCN Health Risk Likely pathogenic —
RS2545765625 ITGB4 Health Risk Pathogenic —
RS2545768865 ITGB4 Health Risk Pathogenic —
RS2545769842 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545770353 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545770831 TPO Health Risk Likely pathogenic —
RS2545776365 SPEG Health Risk Likely pathogenic —
RS2545778305 TLK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545779233 TLK2 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2545779418 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS2545786054 ITGB4 Health Risk Likely pathogenic Lung cancer, Lung cancer
RS2545793597 SZT2 Health Risk Likely pathogenic —
RS2545794648 LRP2 Health Risk Pathogenic Hearing impairment, Hearing impairment
RS2545794997 SZT2 Health Risk Likely pathogenic —
RS2545798028 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2545798157 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset
RS2545798522 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545799936 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545800105 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545800359 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS2545800574 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545800994 ITGB4 Health Risk Pathogenic —
RS2545801210 SZT2 Health Risk Pathogenic —
RS2545801238 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS2545802033 ITGB4 Health Risk Pathogenic —
RS2545802225 ITGB4 Health Risk Pathogenic —
RS2545802550 ITGB4 Health Risk Pathogenic —
RS2545802944 ITGB4 Health Risk Pathogenic —
RS2545803481 SZT2 Health Risk Likely pathogenic —
RS2545804789 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545805164 LRP2 Health Risk Likely pathogenic —
RS2545805187 LRP2 Health Risk Pathogenic —
RS2545805212 LRP2 Health Risk Likely pathogenic —
RS2545807345 LRP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545809134 SZT2 Health Risk Pathogenic —
RS2545814877 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS2545814922 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545814988 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545815059 SZT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545815337 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545815498 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545815673 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2545816515 SZT2 Health Risk Pathogenic —
RS2545819541 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545819980 SZT2 Health Risk Pathogenic —
RS2545820139 SZT2 Health Risk Pathogenic —
RS2545820987 SZT2 Health Risk Pathogenic —
RS2545821718 LRP2 Health Risk Pathogenic —
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