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
RS1555165494 COL2A1 Health Risk Pathogenic COL2A1-related disorder, Achondrogenesis type II
RS1555165501 COL2A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555165503 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555165565 MEN1 Health Risk Pathogenic Ependymoma, Ependymoma
RS1555165570 MEN1 Health Risk Likely pathogenic —
RS1555165597 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555165756 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555165809 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555165811 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1555166013 COL2A1 Health Risk Pathogenic —
RS1555166218 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555166294 COL2A1 Health Risk Likely pathogenic —
RS1555166295 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555166365 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166368 MEN1 Health Risk Pathogenic 6 conditions, Multiple endocrine neoplasia
RS1555166387 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166435 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166457 COL2A1 Health Risk Pathogenic —
RS1555166466 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166469 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1555166494 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166528 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS1555166537 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555166555 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555166557 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1555166567 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166609 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166658 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555166664 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1555166681 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166695 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1555166711 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1555166729 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS1555166808 COL2A1 Health Risk Pathogenic —
RS1555166826 COL2A1 Health Risk Likely pathogenic —
RS1555166943 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS1555167058 COL2A1 Health Risk Likely pathogenic —
RS1555167067 COL2A1 Health Risk Pathogenic —
RS1555167139 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS1555167140 COL2A1 Health Risk Pathogenic —
RS1555167156 COL2A1 Health Risk Pathogenic —
RS1555167157 COL2A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555167299 KIF21A Health Risk Likely pathogenic KIF21A-related disorder, KIF21A-related disorder
RS1555167368 COL2A1 Health Risk Pathogenic —
RS1555167372 COL2A1 Health Risk Likely pathogenic —
RS1555167439 COL2A1 Health Risk Pathogenic —
RS1555167449 COL2A1 Health Risk Pathogenic —
RS1555167566 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1555167770 COL2A1 Health Risk Likely pathogenic —
RS1555167783 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1555167847 COL2A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555168270 MARS1 Health Risk Conflicting classifications of pathogenicity MARS-related disorder, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS1555168309 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555168505 COL2A1 Health Risk Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS1555168542 COL2A1 Health Risk Likely pathogenic —
RS1555168840 COL2A1 Health Risk Likely pathogenic —
RS1555168965 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1555169270 IRAK4 Health Risk Likely pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1555170507 CHD4 Health Risk Likely pathogenic CHD4-related disorder, CHD4-related disorder
RS1555171158 KRT1 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS1555171247 KRT1 Health Risk Pathogenic/Likely pathogenic 6 conditions, 6 conditions
RS1555171293 CHD4 Health Risk Likely pathogenic —
RS1555171527 KRT1 Health Risk Likely pathogenic —
RS1555174708 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS1555176945 PEX5 Health Risk Pathogenic/Likely pathogenic PEX5-related disorder, Peroxisome biogenesis disorder 2B
RS1555177629 KIF5A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Spastic paraplegia
RS1555177824 KIF5A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 10
RS1555177831 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1555177994 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS1555178348 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1555178358 NUP107 Health Risk Pathogenic Ovarian dysgenesis 6, Ovarian dysgenesis 6
RS1555178616 KIF5A Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1555178899 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS1555179087 KIF5A Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS1555179091 KIF5A Health Risk Pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS1555179320 ABCC9 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1O, Inborn genetic diseases
RS1555179699 MIP Health Risk Pathogenic —
RS1555179713 MIP Health Risk Pathogenic Cataract 15 multiple types, Cataract 15 multiple types
RS1555184609 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, KMT2D-related disorder
RS1555184624 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Seizure
RS1555184635 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555184684 KMT2D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555184777 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1555184782 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555184787 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555184893 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555185217 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1555185299 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1555185301 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555185337 KMT2D Health Risk Likely pathogenic —
RS1555185358 KMT2D Health Risk Likely pathogenic —
RS1555185610 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555185699 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555185701 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1555185778 CNTN1 Health Risk Likely pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1555185817 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555185875 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1555185969 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555185978 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186044 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
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