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
RS2147089236 STS Health Risk Likely pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS2147089265 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS2147089334 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147089573 AMER1 Health Risk Pathogenic —
RS2147089633 FTSJ1 Health Risk Pathogenic —
RS2147089642 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147089995 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147090682 AMER1 Health Risk Pathogenic —
RS2147090694 AMER1 Health Risk Pathogenic —
RS2147091121 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS2147091894 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147095645 CASK Health Risk Pathogenic/Likely pathogenic Developmental disorder, Syndromic X-linked intellectual disability Najm type
RS2147095810 TRMU Health Risk Pathogenic —
RS2147095916 TRMU Health Risk Pathogenic —
RS2147095950 CASK Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147095994 CASK Health Risk Likely pathogenic Intellectual disability, CASK-related
RS2147096093 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2147096217 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147096232 IQSEC2 Health Risk Pathogenic See cases, See cases
RS2147096420 CNKSR2 Health Risk Pathogenic —
RS2147096455 GLRA2 Health Risk Likely pathogenic See cases, Intellectual developmental disorder
RS2147096776 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147096963 IQSEC2 Health Risk Pathogenic See cases, See cases
RS2147097507 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2147097839 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147099953 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS2147102426 IQSEC2 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147103024 MAOA Health Risk Conflicting classifications of pathogenicity Brunner syndrome, Inborn genetic diseases
RS2147103761 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147104281 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147105351 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS2147106503 FRMPD4 Health Risk Likely pathogenic —
RS2147107556 MAOA Health Risk Pathogenic Brunner syndrome, Brunner syndrome
RS2147107697 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2147108214 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147111812 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2147112134 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2147113534 USP9X Health Risk Likely pathogenic See cases, Thyroid cancer
RS2147113826 TRMU Health Risk Pathogenic —
RS2147114173 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS2147114191 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2147114206 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS2147115316 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2147116755 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2147118205 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2147118758 PHEX Health Risk Pathogenic —
RS2147118833 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147118855 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147120336 GSS Health Risk Likely pathogenic Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
RS2147121012 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147122044 PORCN Health Risk Likely pathogenic —
RS2147122288 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147122581 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147122623 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147122655 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147122741 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147122795 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147123261 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2147123290 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2147123496 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2147123782 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS2147123908 CNKSR2 Health Risk Pathogenic —
RS2147124229 PORCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2147124401 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2147126983 USP9X Health Risk Pathogenic —
RS2147126994 USP9X Health Risk Pathogenic See cases, See cases
RS2147127449 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147128134 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147128208 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147128222 PHEX Health Risk Pathogenic —
RS2147128300 PHEX Health Risk Pathogenic —
RS2147128410 EIF2S3 Health Risk Likely pathogenic MEHMO syndrome, MEHMO syndrome
RS2147129316 EIF2S3 Health Risk Conflicting classifications of pathogenicity MEHMO syndrome, MEHMO syndrome
RS2147130188 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2147131515 EIF2S3 Health Risk Pathogenic MEHMO syndrome, MEHMO syndrome
RS2147131609 PORCN Health Risk Pathogenic —
RS2147131642 PORCN Health Risk Pathogenic/Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2147132223 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147132235 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147132253 CDKL5 Health Risk Likely pathogenic —
RS2147132274 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147136759 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS2147138207 CASK Health Risk Pathogenic X-linked syndromic intellectual disability, X-linked syndromic intellectual disability
RS2147138406 CASK Health Risk Pathogenic —
RS2147139052 PHEX Health Risk Pathogenic —
RS2147139089 PHEX Health Risk Pathogenic —
RS2147139114 PHEX Health Risk Likely pathogenic —
RS2147139131 PHEX Health Risk Pathogenic —
RS2147139133 PHEX Health Risk Likely pathogenic —
RS2147139522 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147139532 CDKL5 Health Risk Pathogenic —
RS2147139605 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147139669 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147139674 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147139684 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147139830 PORCN Health Risk Pathogenic/Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2147140951 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2147141032 NHS Health Risk Pathogenic —
RS2147142586 CDKL5 Health Risk Pathogenic —
RS2147142599 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
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