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
RS2080119161 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080120731 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2080121850 MED13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080161530 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2080162888 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080164185 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS2080164484 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080167483 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080170537 ATM Health Risk Pathogenic Malignant tumor of urinary bladder, Hereditary cancer-predisposing syndrome
RS2080171293 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080176523 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080178937 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080180530 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080187424 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2080188103 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080189052 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2080191127 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS2080191165 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2080191422 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2080210194 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2080211640 KCNQ2 Health Risk Pathogenic —
RS2080213813 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080229346 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080230745 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080231132 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2080231811 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS2080233713 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2080238010 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2080239750 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080239833 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2080240053 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080245178 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2080245264 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080267597 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2080267793 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2080268991 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2080274080 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2080278571 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2080280611 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2080280639 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2080284670 LSS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080284671 ARID1A Health Risk Likely pathogenic ARID1A-related disorder, ARID1A-related disorder
RS2080290215 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080291800 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2080292910 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080294213 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080303837 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080304396 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080305309 UBE3A Health Risk Pathogenic —
RS2080305905 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080306272 DOCK6 Health Risk Likely pathogenic —
RS2080316641 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080317430 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080318979 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080330778 SPTBN4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080338119 MED13 Health Risk Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2080364920 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS2080404297 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2080414407 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2080417973 GMPPB Health Risk Likely pathogenic —
RS2080421905 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2080423660 GMPPB Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2080426663 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2080427976 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T
RS2080439314 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080439797 EFNB1 Health Risk Conflicting classifications of pathogenicity Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080456894 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2080468475 EFNB1 Health Risk Pathogenic —
RS2080468583 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080468871 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080471329 EFNB1 Health Risk Likely pathogenic —
RS2080471528 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080472731 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080473382 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2080473458 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS2080475075 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2080479088 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080482247 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080483369 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080505282 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2080510348 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2080511514 IGSF1 Health Risk Pathogenic Inborn genetic diseases, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS2080514041 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2080555011 SPTBN4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080573967 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080577927 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080584788 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080623161 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2080629778 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2080654412 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2080669968 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080670725 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080670808 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080673271 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080673579 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2080673604 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080677629 TMEM231 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2080685279 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS2080691297 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080691379 ZBTB20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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