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
RS2135127698 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135127706 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135127852 EXT2 Health Risk Likely pathogenic Hepatoblastoma, Hepatoblastoma
RS2135128105 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135128191 PHF21A Health Risk Pathogenic —
RS2135128814 TECTA Health Risk Pathogenic Bilateral sensorineural hearing impairment, Autosomal dominant nonsyndromic hearing loss 12
RS2135128822 TECTA Health Risk Likely pathogenic —
RS2135130818 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135141843 LTBP3 Health Risk Pathogenic Geleophysic dysplasia 3, Geleophysic dysplasia 3
RS2135143551 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135143557 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135147324 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2135149193 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2135153182 PAX6 Health Risk Pathogenic —
RS2135153244 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS2135155640 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135157363 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135158146 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome 16
RS2135159627 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135163033 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS2135167716 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2135168243 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2135177102 CABP4 Health Risk Pathogenic —
RS2135178682 CABP4 Health Risk Pathogenic —
RS2135181870 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS2135189980 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2135190077 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2135190154 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2135191306 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome 2
RS2135195989 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2135196385 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2135204843 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135213081 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS2135221867 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135224893 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135225617 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2135225618 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135227044 MYO7A Health Risk Pathogenic —
RS2135227381 MYO7A Health Risk Pathogenic —
RS2135227395 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135227474 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135227564 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135231835 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS2135232745 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS2135233808 KCNK4 Health Risk Likely pathogenic —
RS2135235196 MYO7A Health Risk Pathogenic —
RS2135236778 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135237416 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135238203 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135238938 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135239839 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135239944 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135239992 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135241121 COL27A1 Health Risk Likely pathogenic —
RS2135241227 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135241404 COL27A1 Health Risk Pathogenic —
RS2135241864 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135242104 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135242147 TYR Health Risk Pathogenic —
RS2135242551 TYR Health Risk Likely pathogenic —
RS2135242595 ATM Health Risk Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS2135242624 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2135242925 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135244325 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135244802 MYO7A Health Risk Pathogenic —
RS2135244869 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135245850 MYO7A Health Risk Pathogenic —
RS2135253045 TYR Health Risk Pathogenic —
RS2135253148 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS2135253151 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS2135253219 TYR Health Risk Pathogenic —
RS2135253360 TYR Health Risk Pathogenic —
RS2135253415 TYR Health Risk Pathogenic/Likely pathogenic Abnormality of the skin, Oculocutaneous albinism type 1A
RS2135256121 MYO7A Health Risk Pathogenic —
RS2135256420 MYO7A Health Risk Pathogenic —
RS2135259503 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135264652 SDHD Health Risk Pathogenic Pheochromocytoma, Cowden syndrome 3
RS2135264840 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135264983 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135265742 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135265770 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135266156 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS2135266498 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135266573 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135266984 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135267332 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135267333 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS2135267337 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS2135267557 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS2135267768 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2135268427 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135268548 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135269091 SDHD Health Risk Conflicting classifications of pathogenicity Paragangliomas with sensorineural hearing loss, Cowden syndrome 3
RS2135269244 SDHD Health Risk Pathogenic Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome
RS2135269276 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS2135269358 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS2135269378 SDHD Health Risk Pathogenic Cowden syndrome 3, Pheochromocytoma
RS2135269692 SDHD Health Risk Pathogenic/Likely pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS2135269697 SDHD Health Risk Pathogenic Pheochromocytoma, Cowden syndrome 3
RS2135269732 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
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