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
RS1592116886 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592117125 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592117677 CD27 Health Risk Pathogenic Immunodeficiency, Combined immunodeficiency
RS1592118753 KMT2D Health Risk Pathogenic —
RS1592118879 ARID2 Health Risk Pathogenic —
RS1592118927 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1592118953 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592118976 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592119138 KMT2D Health Risk Likely pathogenic Lymphoma, Lymphoma
RS1592121202 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Medulloblastoma non-WNT/non-SHH group 4
RS1592121317 ARID2 Health Risk Pathogenic —
RS1592121752 ARID2 Health Risk Pathogenic —
RS1592122640 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592123024 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592123162 KMT2D Health Risk Pathogenic Lymphoma, Kabuki syndrome 1
RS1592129081 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592129138 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592130816 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592131106 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592131399 KMT2D Health Risk Pathogenic —
RS1592132971 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592133086 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Malignant tumor of urinary bladder
RS1592133696 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592135715 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592136242 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592136317 KMT2D Health Risk Pathogenic Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1592136884 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592137369 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592137413 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592138822 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1592139221 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Nasopharyngeal carcinoma
RS1592139573 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592141343 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS1592142093 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592142239 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592143384 ZEB1 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3
RS1592145571 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1592145939 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592146526 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592148206 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1592149711 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS1592149771 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1592149793 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1592149876 SCN8A Health Risk Likely pathogenic —
RS1592149906 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1592150075 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592151169 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592152233 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592153986 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Branchial cleft anomaly
RS1592156633 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592157134 KMT2D Health Risk Pathogenic —
RS1592157335 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592157505 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592159322 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592159924 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592160494 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1592161182 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592162415 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1592162430 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1592162506 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1592162768 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592162790 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1592164705 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1592166720 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS1592168824 WNK1 Health Risk Conflicting classifications of pathogenicity WNK1-related disorder, Pseudohypoaldosteronism type 2C
RS1592169234 KRT6B Health Risk Pathogenic Pachyonychia congenita 4, Pachyonychia congenita 4
RS1592173638 HNRNPA1 Health Risk Likely pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
RS1592174304 SCN8A Health Risk Likely pathogenic Seizure, Infantile spasms
RS1592184934 DHH Health Risk Pathogenic 46, XY sex reversal 7
RS1592192920 COL2A1 Health Risk Pathogenic Platyspondylic dysplasia, Torrance type
RS1592193619 KRT5 Health Risk Pathogenic —
RS1592196064 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS1592196744 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592196867 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592197682 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
RS1592197752 COL2A1 Health Risk Likely pathogenic —
RS1592198747 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
RS1592198803 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS1592199296 COL2A1 Health Risk Pathogenic —
RS1592199342 COL2A1 Health Risk Likely pathogenic —
RS1592202517 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592205758 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS1592206729 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592212904 HMBS Health Risk Pathogenic Porphyria, acute intermittent
RS1592213590 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1592214208 HMBS Health Risk Pathogenic —
RS1592214400 COL2A1 Health Risk Pathogenic —
RS1592214498 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1592215081 HMBS Health Risk Likely pathogenic —
RS1592215117 HMBS Health Risk Pathogenic —
RS1592215837 HMBS Health Risk Pathogenic —
RS1592217071 COL2A1 Health Risk Likely pathogenic Stickler syndrome, Stickler syndrome
RS1592217625 HMBS Health Risk Pathogenic Abnormal circulating porphyrin concentration, Abnormal circulating porphyrin concentration
RS1592217645 HMBS Health Risk Pathogenic —
RS1592217847 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1592217853 HMBS Health Risk Pathogenic —
RS1592218346 COL2A1 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stickler syndrome type 1
RS1592218614 COL2A1 Health Risk Pathogenic —
RS1592219635 HMBS Health Risk Pathogenic —
RS1592219658 HMBS Health Risk Pathogenic —
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