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
RS2145671861 PLA2G6 Health Risk Likely pathogenic —
RS2145679099 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145679115 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145680059 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145680143 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145680256 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145681074 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145681468 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145682223 RYR1 Health Risk Pathogenic Abnormality of the musculature, RYR1-related disorder
RS2145682767 PLA2G6 Health Risk Likely pathogenic —
RS2145682922 PLA2G6 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2145682923 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145683127 PLA2G6 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Autosomal recessive Parkinson disease 14
RS2145688683 RYR1 Health Risk Pathogenic —
RS2145689814 MCM3AP Health Risk Pathogenic —
RS2145695502 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS2145697142 EP300 Health Risk Pathogenic EP300-related disorder, EP300-related disorder
RS2145697529 EP300 Health Risk Pathogenic —
RS2145697647 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145701153 GTPBP3 Health Risk Pathogenic —
RS2145701171 GTPBP3 Health Risk Pathogenic —
RS2145701950 GTPBP3 Health Risk Pathogenic —
RS2145702012 GTPBP3 Health Risk Pathogenic —
RS2145702302 GTPBP3 Health Risk Pathogenic GTPBP3-related disorder, GTPBP3-related disorder
RS2145702358 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145702588 NCF4 Health Risk Likely pathogenic Chronic granulomatous disease, Chronic granulomatous disease
RS2145703172 GTPBP3 Health Risk Pathogenic —
RS2145705605 MAPK1 Health Risk Likely pathogenic MAPK1-related disorder, MAPK1-related disorder
RS2145706114 WDR62 Health Risk Pathogenic/Likely pathogenic Microcephaly 2, primary
RS2145708232 MCM3AP Health Risk Likely pathogenic —
RS2145710946 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2145711022 PLA2G6 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS2145711507 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145712063 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145712091 KCNQ2 Health Risk Likely pathogenic —
RS2145712459 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145712492 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145712498 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145712541 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2145712576 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2145712758 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2145713137 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2145713819 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colon adenocarcinoma
RS2145715515 EP300 Health Risk Pathogenic —
RS2145715677 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145715728 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2145718887 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145718961 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2145719551 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2145719697 KCNQ2 Health Risk Likely pathogenic —
RS2145719797 KCNQ2 Health Risk Likely pathogenic —
RS2145719805 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145722213 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2145722278 PLA2G6 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2145722767 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145723826 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145724052 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS2145724454 MCM3AP Health Risk Pathogenic —
RS2145725035 EP300 Health Risk Pathogenic —
RS2145725786 EP300 Health Risk Pathogenic —
RS2145726269 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2145727241 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS2145727806 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2145728259 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS2145729186 TCF4 Health Risk Likely pathogenic —
RS2145729217 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2145729499 GREB1L Health Risk Likely pathogenic —
RS2145729505 PRX Health Risk Likely pathogenic —
RS2145731305 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2145731903 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2145732111 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2145733964 PRX Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS2145734002 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145735332 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS2145735938 EP300 Health Risk Pathogenic —
RS2145735982 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145736063 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145736248 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145736348 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2145736444 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145736578 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145736622 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145736778 KCNQ2 Health Risk Likely pathogenic See cases, See cases
RS2145736858 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145737748 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145739661 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145740556 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145743494 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145744160 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2145744381 DYM Health Risk Likely pathogenic —
RS2145744796 EP300 Health Risk Likely pathogenic —
RS2145747771 EP300 Health Risk Likely pathogenic EP300-related disorder, EP300-related disorder
RS2145747957 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145748011 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145748046 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145748251 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145748275 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145748375 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145748685 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145748708 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
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