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
RS1553624830 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553624840 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553625037 SETD5 Health Risk Pathogenic —
RS1553625684 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1553625691 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553625836 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553625881 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553626575 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553627148 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1553627403 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553627466 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553627655 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553627759 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS1553628052 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553628351 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553628365 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553628410 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553628445 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553628482 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553629086 HECW2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553629105 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553629143 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553629676 SETD5 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1553629700 SETD5 Health Risk Pathogenic —
RS1553629776 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1553630171 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 2, Malignant tumor of esophagus
RS1553630174 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553630221 TGFBR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553630235 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553630274 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553630279 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630289 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553630304 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630426 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1553630438 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553630457 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS1553630458 CTNNB1 Health Risk Pathogenic —
RS1553630472 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553630507 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553630789 CTNNB1 Health Risk Pathogenic —
RS1553630795 CTNNB1 Health Risk Pathogenic —
RS1553631693 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Squamous cell carcinoma of the head and neck
RS1553631770 CTNNB1 Health Risk Likely pathogenic Inborn genetic diseases, Exudative vitreoretinopathy 7
RS1553631783 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553631845 CTNNB1 Health Risk Pathogenic —
RS1553631860 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Neurodevelopmental disorder
RS1553631896 CTNNB1 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1553631968 TGFBR2 Health Risk Pathogenic Wolff-Parkinson-White pattern, Familial thoracic aortic aneurysm and aortic dissection
RS1553632001 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553632357 CTNNB1 Health Risk Likely pathogenic Microcephaly, Imperforate anus
RS1553632361 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome
RS1553632412 CTNNB1 Health Risk Pathogenic —
RS1553632414 CTNNB1 Health Risk Pathogenic —
RS1553632633 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553633403 HECW2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553633687 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1553633823 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1553634790 COLQ Health Risk Pathogenic —
RS1553634884 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS1553635112 LARS2 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1553635398 KIF1A Health Risk Likely pathogenic —
RS1553635477 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553635637 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder
RS1553635778 HECW2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553636324 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553636520 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1553636843 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553637191 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553637196 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553637293 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553637463 RARB Health Risk Pathogenic/Likely pathogenic —
RS1553637470 RARB Health Risk Likely pathogenic Microphthalmia, syndromic 12
RS1553637475 MLH1 Health Risk Likely pathogenic Carcinoma of colon, Carcinoma of colon
RS1553637494 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553637932 KIF1A Health Risk Pathogenic Inborn genetic diseases, Neuropathy
RS1553638086 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1553638206 AMT Health Risk Pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638247 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1553638266 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1553638309 KIF1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553638405 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638408 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638457 AMT Health Risk Likely pathogenic Glycine encephalopathy, Inborn genetic diseases
RS1553638460 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638463 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1553638539 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553638608 TTN Health Risk Likely pathogenic —
RS1553638614 KIF1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 9
RS1553638649 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638655 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1553638715 SETD5 Health Risk Pathogenic —
RS1553638723 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553638767 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch-like syndrome
RS1553638822 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1553638868 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1553638877 SETD5 Health Risk Pathogenic —
RS1553638903 PPARG Health Risk association Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1553638904 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1553638907 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1553638909 PPARG Health Risk association Type 2 diabetes mellitus, Type 2 diabetes mellitus
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