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
RS2153015644 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153015709 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153020985 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153021199 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153021628 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021634 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS2153021698 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021702 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021904 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021921 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021926 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS2153021976 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153021978 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022009 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022188 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022202 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022225 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022228 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022229 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2153022263 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022341 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022349 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022358 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022377 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022390 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022399 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis
RS2153022415 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022443 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022646 IDUA Health Risk Pathogenic —
RS2153022799 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS2153022881 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS2153022895 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022916 IDUA Health Risk Pathogenic Interstitial pneumonitis, Interstitial pneumonitis
RS2153022938 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022944 IDUA Health Risk Likely pathogenic —
RS2153022958 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153022990 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153023210 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS2153023278 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153023287 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS2153023301 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS2153024257 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2153025020 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153026918 TAOK1 Health Risk Likely pathogenic Global developmental delay, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2153026921 TAOK1 Health Risk Likely pathogenic —
RS2153028697 TAOK1 Health Risk Pathogenic/Likely pathogenic Macroglossia, Global developmental delay
RS2153028699 TAOK1 Health Risk Pathogenic/Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2153029219 TAOK1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2153029597 TAOK1 Health Risk Pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2153030392 TAOK1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2153034844 CHKA Health Risk Likely pathogenic Microcephaly, Severe intellectual disability
RS2153039957 KMT5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 51
RS2153039995 KMT5B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2153040709 KMT5B Health Risk Likely pathogenic See cases, See cases
RS2153040748 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2153041026 KMT5B Health Risk Likely pathogenic —
RS2153041094 KMT5B Health Risk Likely pathogenic See cases, See cases
RS2153042521 HDAC4 Health Risk Likely pathogenic —
RS2153051225 BRCA1 Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2153052061 KMT5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 51
RS2153052073 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2153052371 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS2153054646 KMT5B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2153055850 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2153068015 KMT5B Health Risk Pathogenic Autistic behavior, Autistic behavior
RS2153069688 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2153070428 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2153072192 NEB Health Risk Pathogenic/Likely pathogenic See cases, Nemaline myopathy 2
RS2153073575 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153073717 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153074000 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153074006 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153074319 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153074738 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153074771 MEF2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153074822 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153075593 BRCA1 Health Risk Likely pathogenic —
RS2153082051 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS2153082059 NBEA Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2153085709 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2153102752 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153104173 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153110162 LRP5 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2153110244 LRP5 Health Risk Likely pathogenic —
RS2153112725 PHOX2B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Haddad syndrome
RS2153112779 PHOX2B Health Risk Likely pathogenic Haddad syndrome, Hereditary cancer-predisposing syndrome
RS2153112821 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS2153112938 PHOX2B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2153113036 PHOX2B Health Risk Likely pathogenic Haddad syndrome, Neuroblastoma
RS2153113037 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Congenital central hypoventilation
RS2153113084 PHOX2B Health Risk Pathogenic Haddad syndrome, Hereditary cancer-predisposing syndrome
RS2153115303 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153129403 LRP5 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2153129468 LRP5 Health Risk Pathogenic —
RS2153129564 LRP5 Health Risk Pathogenic —
RS2153136142 LRP5 Health Risk Pathogenic —
RS2153138452 SLC30A9 Health Risk Likely pathogenic Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
RS2153138545 RBL2 Health Risk Likely pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS2153139453 LRP5 Health Risk Pathogenic —
RS2153140527 LRP5 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
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