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
RS2487359618 PLPBP Health Risk Pathogenic —
RS2487371953 PLPBP Health Risk Pathogenic —
RS2487372007 PLPBP Health Risk Pathogenic —
RS2487372034 PLPBP Health Risk Likely pathogenic —
RS2487374176 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487450103 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487450260 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487451078 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487451205 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487451515 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487451611 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS2487451701 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487451984 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452030 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452268 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452374 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452618 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452658 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452856 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452894 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487452936 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487453237 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487453279 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487453331 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS2487453569 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487453776 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2487454016 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487454145 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2487481768 PMP2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS2487491252 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487503753 IKBKB Health Risk Likely pathogenic —
RS2487524655 SLC20A2 Health Risk Pathogenic —
RS2487536492 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487538167 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487538961 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2487539517 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487540941 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
RS2487541533 CHD7 Health Risk Pathogenic —
RS2487561526 ANK1 Health Risk Pathogenic —
RS2487561666 ANK1 Health Risk Likely pathogenic —
RS2487562970 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2487573703 KMT2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487587513 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487596421 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487601133 KMT2C Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS2487605072 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487605572 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487605887 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487606030 ANK1 Health Risk Pathogenic —
RS2487606714 ANK1 Health Risk Likely pathogenic —
RS2487606977 ANK1 Health Risk Pathogenic/Likely pathogenic —
RS2487607030 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487607275 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487614684 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487614749 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487624106 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487626033 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2487634896 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487634907 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487635140 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487635203 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487635534 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, ANK1-related disorder
RS2487635655 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487635721 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487636080 ANK1 Health Risk Likely pathogenic —
RS2487636997 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487637471 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487637859 ANK1 Health Risk Likely pathogenic —
RS2487637881 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487638186 ANK1 Health Risk Pathogenic —
RS2487638198 ANK1 Health Risk Likely pathogenic —
RS2487638331 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487638391 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487638564 ANK1 Health Risk Pathogenic —
RS2487638615 ANK1 Health Risk Pathogenic —
RS2487640420 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487640614 ANK1 Health Risk Likely pathogenic —
RS2487645340 IKBKB Health Risk Likely pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487672040 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS2487673689 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487679210 IKBKB Health Risk Likely pathogenic IKBKB-related disorder, IKBKB-related disorder
RS2487680645 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a
RS2487681869 CHD7 Health Risk Likely pathogenic —
RS2487681882 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487684661 KMT2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487684914 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487689029 KMT2C Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 2, KMT2C-related NDD
RS2487691137 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487691264 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487691864 IKBKB Health Risk Likely pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487692827 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487693202 KMT2C Health Risk Likely pathogenic —
RS2487713743 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487731363 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487734648 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487739397 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487767059 KMT2C Health Risk Pathogenic —
RS2487773907 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487774289 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487774322 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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