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
RS2044224449 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044225406 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Generalized dominant dystrophic epidermolysis bullosa
RS2044233322 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044234082 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS2044234392 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2044235455 COL7A1 Health Risk Pathogenic —
RS2044247868 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044251759 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044271397 UPB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2044272867 SRP54 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2044281812 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2044282736 KDM6A Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2044294504 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2044294792 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2044302053 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044303218 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2044308192 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2044310171 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2044312352 TUBGCP4 Health Risk Pathogenic —
RS2044327502 SETD5 Health Risk Likely pathogenic —
RS2044329211 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2044336029 SETD5 Health Risk Pathogenic Autism spectrum disorder, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2044341412 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2044345693 SETD5 Health Risk Pathogenic —
RS2044349915 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044350714 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044357264 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044384127 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044386296 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044402416 LDLRAP1 Health Risk Pathogenic Autosomal recessive inheritance, Hypercholesterolemia
RS2044403163 KDM6A Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome 2
RS2044404250 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044409446 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044427387 HIF1A Health Risk Pathogenic —
RS2044442536 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2044445392 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2044453958 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2044473963 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044474558 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044485662 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044514951 FBN1 Health Risk Pathogenic Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome
RS2044515247 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044515447 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044515899 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044522375 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044523630 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044547049 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044551330 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044551389 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044551443 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2044551565 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2044562067 COL7A1 Health Risk Pathogenic —
RS2044563544 COL7A1 Health Risk Pathogenic —
RS2044586502 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044596519 TUBGCP4 Health Risk Pathogenic —
RS2044604844 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044605646 COL7A1 Health Risk Likely pathogenic —
RS2044607222 ADGRG1 Health Risk Pathogenic —
RS2044626265 RNF213 Health Risk Likely pathogenic —
RS2044626810 OCA2 Health Risk Likely pathogenic —
RS2044635183 ACACB Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2044646731 KLF5 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS2044650356 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2044668542 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2044669023 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044669166 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2044669179 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044669557 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2044669685 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044681542 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044704486 HIF1A Health Risk Likely pathogenic Maffucci syndrome, Maffucci syndrome
RS2044708601 COL7A1 Health Risk Likely pathogenic —
RS2044715580 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS2044717037 PCDH15 Health Risk Pathogenic —
RS2044722637 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044726547 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044747934 ATPAF2 Health Risk Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS2044750709 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044751948 COL7A1 Health Risk Pathogenic —
RS2044759367 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Squamous cell lung carcinoma
RS2044762657 GRIN2A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Landau-Kleffner syndrome
RS2044763223 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2044777708 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2044779598 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2044792794 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2044811142 VPS13C Health Risk Likely pathogenic —
RS2044824444 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2044838446 COL7A1 Health Risk Likely pathogenic —
RS2044843806 COL7A1 Health Risk Pathogenic/Likely pathogenic —
RS2044880 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome 2
RS2044891130 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS2044893024 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, CEP164-related disorder
RS2044901183 COL7A1 Health Risk Pathogenic —
RS2044916556 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2044924446 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2044929403 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044930168 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS2044946255 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2044949727 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044955528 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
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