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
RS2145952877 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145953393 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145953759 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145953853 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145954110 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS2145954766 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145954876 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145955095 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS2145955099 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS2145955176 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145955178 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145955299 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145956310 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145958521 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145959018 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145959393 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2145959709 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145960213 SMARCB1 Health Risk Pathogenic —
RS2145960216 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2145961078 TSPEAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS2145961535 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2145963298 DMC1 Health Risk Pathogenic Azoospermia, Azoospermia
RS2145963581 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145964108 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2145964352 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145965854 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145968180 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia 42, early-onset
RS2145968996 CRYBB1 Health Risk Likely pathogenic —
RS2145970607 SMARCA4 Health Risk Likely pathogenic SMARCA4-related BAFopathy, Intellectual disability
RS2145970965 ABHD12 Health Risk Pathogenic —
RS2145971047 SMARCA4 Health Risk Likely pathogenic SMARCA4-related BAFopathy, SMARCA4-related BAFopathy
RS2145971509 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2145972429 ATP1A3 Health Risk Pathogenic Seizures, benign familial neonatal
RS2145972442 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145972483 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS2145972497 ATP1A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 99, Dystonia 12
RS2145972624 ATP1A3 Health Risk Likely pathogenic —
RS2145974543 COL18A1 Health Risk Pathogenic —
RS2145977281 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2145977394 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2145977694 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2145977758 ATP1A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2145977887 ATP1A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2145977981 SMARCB1 Health Risk Likely pathogenic —
RS2145977986 SMARCB1 Health Risk Likely pathogenic —
RS2145978723 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome
RS2145979078 CRYBA4 Health Risk Conflicting classifications of pathogenicity Cataract 23, CRYBA4-related disorder
RS2145979349 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2145980559 SMARCB1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS2145980562 SMARCB1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS2145980854 CRYBA4 Health Risk Likely pathogenic Cataract 23, Cataract 23
RS2145981153 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS2145982663 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2145983235 ATP1A3 Health Risk Likely pathogenic Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy
RS2145983859 GDF1 Health Risk Likely pathogenic —
RS2145984865 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2145984908 COL18A1 Health Risk Pathogenic —
RS2145985085 CERS1 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2145988239 DYM Health Risk Likely pathogenic —
RS2145989089 GDF1 Health Risk Pathogenic —
RS2145991515 COL18A1 Health Risk Likely pathogenic —
RS2145991929 TCF3 Health Risk Pathogenic —
RS2145997089 MYO18B Health Risk Pathogenic —
RS2146004773 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146004927 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146005039 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146005256 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146005334 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146005460 CHEK2 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2146005603 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146005656 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146005743 GNAS Health Risk Pathogenic —
RS2146005892 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146005916 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146006030 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146006354 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146007102 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2146007633 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2146009153 COL18A1 Health Risk Pathogenic —
RS2146009225 FBXO7 Health Risk Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2146010204 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2146010499 SMARCB1 Health Risk Pathogenic —
RS2146014035 MYO18B Health Risk Pathogenic —
RS2146014404 DNM2 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS2146015551 COL18A1 Health Risk Pathogenic —
RS2146016503 TMPRSS6 Health Risk Likely pathogenic —
RS2146018043 KDM4B Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2146018812 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2146019063 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2146019689 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2146020978 LTBP4 Health Risk Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2146021137 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146021205 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146021332 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146021370 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS2146021402 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146021496 LTBP4 Health Risk Pathogenic —
RS2146022423 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146022577 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2146022784 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
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