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
RS1942639701 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942648391 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS1942683224 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942691966 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942707093 ARID2 Health Risk Pathogenic —
RS1942752972 MPDZ Health Risk Likely pathogenic —
RS1942753340 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942763268 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942777752 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942779292 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1942779993 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942780608 KMT2D Health Risk Pathogenic —
RS1942824066 PYROXD1 Health Risk Likely pathogenic —
RS1942828530 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS1942828881 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1942829127 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1942829484 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Developmental and epileptic encephalopathy
RS1942832440 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1942853161 ANO6 Health Risk Likely pathogenic ANO6-related disorder, ANO6-related disorder
RS1942873615 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942874047 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942877839 SCN8A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1942879102 SCN8A Health Risk Conflicting classifications of pathogenicity Myoclonus, familial
RS1942880441 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942887434 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS1942891632 KMT2D Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1942899021 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942904418 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942904526 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942907207 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942908701 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942910047 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942918783 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1942919472 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942923153 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942924286 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942938251 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942942020 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942945941 MPDZ Health Risk Pathogenic —
RS1942949098 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942949318 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942957967 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942959186 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1942959311 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS1942960710 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942962939 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1942965081 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1942965341 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942968274 RECQL Health Risk Conflicting classifications of pathogenicity —
RS1942968938 KMT2D Health Risk Likely pathogenic —
RS1942971523 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1942972419 KMT2D Health Risk Pathogenic Dandy-Walker syndrome, Kabuki syndrome 1
RS1942973895 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS1942993834 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943001493 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943001891 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1943006802 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943014403 KMT2D Health Risk Likely pathogenic —
RS1943016320 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943016958 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943027165 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Branchial cleft anomaly
RS1943029611 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1943032394 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943033366 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943040858 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1943043756 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS1943046189 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943052192 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS1943059195 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943073751 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1943078129 KMT2D Health Risk Pathogenic —
RS1943085639 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1943095795 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943096023 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943097701 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943099362 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, 6 conditions
RS1943099538 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943100257 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1943126956 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS1943129966 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943140835 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943142093 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1943194455 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1943217420 VWF Health Risk Pathogenic —
RS1943222436 ANO6 Health Risk Pathogenic —
RS1943227368 ANO6 Health Risk Pathogenic —
RS1943228378 ARID2 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 6, ARID2-related BAFopathy
RS1943242602 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1943250802 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS1943250983 TYR Health Risk Likely pathogenic —
RS1943251200 TYR Health Risk Pathogenic —
RS1943252098 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
RS1943256313 KCNJ1 Health Risk Pathogenic —
RS1943260292 TYR Health Risk Pathogenic —
RS1943262000 TYR Health Risk Likely pathogenic —
RS1943262190 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS1943280408 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943282614 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome 1
RS1943286459 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS1943288780 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
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