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
RS118192217 KCNQ2 Health Risk Likely pathogenic Seizure, Seizures
RS118192218 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192219 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS118192221 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS118192222 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192223 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192225 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS118192226 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192228 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192231 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192232 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS118192233 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192234 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS118192235 KCNQ2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Seizures
RS118192236 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192239 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192241 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192242 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192244 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192245 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192246 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192249 KCNQ3 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192250 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS118192251 KCNQ3 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192252 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS118192254 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS1181934270 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1181935324 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS1181950299 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1181973282 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1181977802 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1181985736 C2CD3 Health Risk Pathogenic —
RS1181990929 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS1181991285 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1181992113 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1181992959 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1182000313 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS118203334 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203342 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203343 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Malignant tumor of urinary bladder
RS118203345 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203348 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Squamous cell lung carcinoma
RS118203352 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203353 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203354 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203360 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203361 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203362 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203363 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203364 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203365 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203367 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203368 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203369 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS118203370 TSC1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS118203372 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203374 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203376 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203378 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203380 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203381 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203382 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, TSC1-related disorder
RS118203384 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203385 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203387 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS118203388 TSC1 Health Risk Pathogenic Lymphangiomyomatosis, Sarcoma
RS118203390 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203391 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203395 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203396 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS118203398 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203399 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203400 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203402 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203403 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203407 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203410 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203411 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203413 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203416 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203417 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203419 TSC1 Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Tuberous sclerosis 1
RS118203422 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203423 TSC1 Health Risk Pathogenic Malignant tumor of urinary bladder, Tuberous sclerosis 1
RS118203426 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS118203427 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203429 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203434 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203435 TSC1 Health Risk Pathogenic —
RS118203436 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203438 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203439 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203440 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203443 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS118203445 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS118203447 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS118203450 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS118203451 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS118203452 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, See cases
RS118203454 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
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