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
RS1057520736 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057520737 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1057520738 IRF6 Health Risk Pathogenic/Likely pathogenic Popliteal pterygium syndrome, Orofacial cleft 6
RS1057520739 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1057520740 KMT2D Health Risk Pathogenic —
RS1057520742 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1057520743 CNTNAP2 Health Risk Pathogenic —
RS1057520744 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057520746 RPL5 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1057520747 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1057520749 CACNA1A Health Risk Pathogenic —
RS1057520750 TP63 Health Risk Pathogenic —
RS1057520752 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS1057520753 SCN3A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1057520755 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1057520756 PHEX Health Risk Pathogenic —
RS1057520757 CWF19L1 Health Risk Pathogenic —
RS1057520758 KANSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057520759 TSC2 Health Risk Pathogenic —
RS1057520761 PCDH19 Health Risk Pathogenic —
RS1057520762 GNRHR Health Risk Pathogenic —
RS1057520764 DMD Health Risk Pathogenic Cardiovascular phenotype, Duchenne muscular dystrophy
RS1057520765 CHM Health Risk Pathogenic —
RS1057520766 EYA1 Health Risk Pathogenic —
RS1057520767 GLMN Health Risk Pathogenic —
RS1057520768 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057520769 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057520770 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS1057520771 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1057520772 FKRP Health Risk Pathogenic —
RS1057520773 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1057520775 MED13L Health Risk Likely pathogenic —
RS1057520778 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1057520779 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS1057520780 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1-related disorder
RS1057520781 GK Health Risk Pathogenic —
RS1057520783 LMX1B Health Risk Conflicting classifications of pathogenicity —
RS1057520784 SMARCA2 Health Risk Pathogenic —
RS1057520785 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS1057520786 PHYH Health Risk Pathogenic —
RS1057520787 TUBB2B Health Risk Pathogenic —
RS1057520788 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1057520790 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1057520791 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia
RS1057520792 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057520800 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057520802 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057520803 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1057520813 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057520814 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1057520815 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1
RS1057520828 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS1057520831 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057520837 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057520841 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1057520843 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057520844 SCN2A Health Risk Pathogenic/Likely pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1057520846 SCN4A Health Risk Pathogenic —
RS1057520852 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1057520858 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1057520861 LRP2 Health Risk Likely pathogenic —
RS1057520867 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1057520869 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1057520873 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1057520880 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1057520897 CRYAB Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1II, Cardiovascular phenotype
RS1057520900 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hemangioma
RS1057520911 CHD4 Health Risk Likely pathogenic —
RS1057520916 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057520918 CACNA1A Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1057520957 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1057520966 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1057520977 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1057520982 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS1057520985 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057520996 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1057520997 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057521013 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1057521034 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1057521041 GATAD2B Health Risk Pathogenic/Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1057521043 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1057521044 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057521047 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1057521057 SGCB Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of beta-sarcoglycan, Qualitative or quantitative defects of beta-sarcoglycan
RS1057521059 BCS1L Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1057521062 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1057521063 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Movement disorder
RS1057521064 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1057521065 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1057521066 SLC2A1 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS1057521068 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
RS1057521070 TCF4 Health Risk Likely pathogenic Inborn genetic diseases, Pitt-Hopkins syndrome
RS1057521071 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1057521074 F8 Health Risk Pathogenic —
RS1057521077 CHD7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057521078 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1057521079 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1057521080 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1057521083 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1057521084 EIF2B5 Health Risk Likely pathogenic —
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