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
RS2146919315 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146919339 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146919800 MYO18B Health Risk Pathogenic —
RS2146919819 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146921337 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146921497 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2146922561 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2146922620 PCNT Health Risk Likely pathogenic See cases, See cases
RS2146922648 PCNT Health Risk Pathogenic —
RS2146930042 ZNF526 Health Risk Pathogenic Dentici-Novelli neurodevelopmental syndrome, Dentici-Novelli neurodevelopmental syndrome
RS2146932748 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2146933945 KDM5C Health Risk Likely pathogenic —
RS2146934768 KDM5C Health Risk Pathogenic —
RS2146934832 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146934865 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146936860 BPTF Health Risk Pathogenic —
RS2146940260 KDM5C Health Risk Likely pathogenic —
RS2146946828 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146946968 KDM5C Health Risk Likely pathogenic —
RS2146947108 TBCD Health Risk Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS2146947345 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146947627 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146948133 ERF Health Risk Likely pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2146949300 ERF Health Risk Pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2146949591 BPTF Health Risk Pathogenic —
RS2146950390 ERF Health Risk Likely pathogenic Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2146952114 ERF Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, Lambdoidal craniosynostosis
RS2146953457 SMS Health Risk Likely pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS2146954029 SMS Health Risk Likely pathogenic —
RS2146960176 ERF Health Risk Conflicting classifications of pathogenicity Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2146960379 SMS Health Risk Likely pathogenic —
RS2146961698 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146966211 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146966216 NF2 Health Risk Likely pathogenic SMARCB1-related schwannomatosis, Neurofibromatosis
RS2146966294 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146966417 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146966627 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2146966685 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146966936 BPTF Health Risk Pathogenic —
RS2146967302 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146968484 BPTF Health Risk Pathogenic —
RS2146970113 OFD1 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 2, Simpson-Golabi-Behmel syndrome type 2
RS2146972508 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146974102 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146974183 PHEX Health Risk Pathogenic —
RS2146974254 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146978491 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146978931 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146979490 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146979498 PHEX Health Risk Pathogenic —
RS2146979520 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146979558 PHEX Health Risk Pathogenic —
RS2146979567 PHEX Health Risk Pathogenic —
RS2146984250 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2146987638 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146987683 PHEX Health Risk Pathogenic —
RS2146987697 PHEX Health Risk Likely pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2146987767 PHEX Health Risk Pathogenic —
RS2146987783 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146987874 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2146987897 PHEX Health Risk Pathogenic —
RS2146987952 PHEX Health Risk Pathogenic —
RS2146989146 MBOAT7 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 57
RS2146989498 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146989887 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146990314 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146990737 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146990961 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2146991528 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146991715 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146992010 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2146999184 GLRA2 Health Risk Likely pathogenic See cases, See cases
RS2146999591 IQSEC2 Health Risk Likely pathogenic —
RS2146999877 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2146999914 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147000428 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147000837 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147000956 IQSEC2 Health Risk Pathogenic Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy
RS2147001369 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147003883 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147004911 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147005509 TSEN54 Health Risk Pathogenic —
RS2147005760 USP9X Health Risk Pathogenic —
RS2147005856 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4
RS2147006012 USP9X Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147006202 NR0B1 Health Risk Pathogenic —
RS2147006209 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2147006296 TSEN54 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4
RS2147006430 IQSEC2 Health Risk Pathogenic —
RS2147007005 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS2147007205 NR0B1 Health Risk Pathogenic —
RS2147007353 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2147007424 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2147007533 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147009482 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147009961 IQSEC2 Health Risk Pathogenic —
RS2147010150 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147010188 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147010401 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147010427 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
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