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
RS2128485171 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2128489042 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128490901 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128492584 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128492914 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128492930 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128497316 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2128502824 TBC1D32 Health Risk Pathogenic —
RS2128504331 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2128506370 PGM3 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2128509412 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2128522189 TBXT Health Risk Likely pathogenic —
RS2128532901 INTS1 Health Risk Pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS2128539437 INTS1 Health Risk Likely pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS2128544907 INTS1 Health Risk Likely pathogenic See cases, See cases
RS2128555980 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2128585128 ARID1B Health Risk Pathogenic —
RS2128596101 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS2128598609 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS2128599896 BMPER Health Risk Pathogenic Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS2128605586 ELFN1 Health Risk Pathogenic/Likely pathogenic Developmental and Epileptic Encephalopathy with Joint Laxity, DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME
RS2128607933 RSPH3 Health Risk Likely pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS2128614455 EPM2A Health Risk Pathogenic Myoclonic epilepsy of Lafora 1, Myoclonic epilepsy of Lafora 1
RS2128629356 RNF216 Health Risk Likely pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS2128632948 RNF216 Health Risk Pathogenic —
RS2128633891 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128634170 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128634238 ARID1B Health Risk Pathogenic —
RS2128634414 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128634579 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128637642 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128645753 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS2128645761 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS2128646702 RNASET2 Health Risk Likely pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS2128646927 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS2128649765 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2128649886 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Lafora disease
RS2128655278 EYA4 Health Risk Likely pathogenic —
RS2128656455 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2128656484 PMS2 Health Risk Pathogenic —
RS2128657907 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128658092 PMS2 Health Risk Pathogenic/Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS2128658183 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2128658402 PMS2 Health Risk Pathogenic —
RS2128658792 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128658900 EYA4 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2128659484 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128665071 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128665075 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128667543 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS2128671526 PMS2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2128671557 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 4
RS2128672266 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128672286 PMS2 Health Risk Likely pathogenic Malignant tumor of breast, Lynch syndrome 4
RS2128672594 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128673214 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128674457 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2128674468 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128674545 EYA4 Health Risk Likely pathogenic —
RS2128674870 PMS2 Health Risk Pathogenic —
RS2128674939 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128674984 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Ovarian serous cystadenocarcinoma
RS2128676082 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128682979 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128683310 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128683356 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128684295 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2128702096 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128704364 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS2128704530 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2128704804 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128704828 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128704887 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128704900 GLI3 Health Risk Likely pathogenic —
RS2128704936 GLI3 Health Risk Likely pathogenic Polydactyly, postaxial
RS2128704974 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128705002 GLI3 Health Risk Likely pathogenic —
RS2128705010 GLI3 Health Risk Likely pathogenic —
RS2128705042 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128705204 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128705420 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128705546 GLI3 Health Risk Likely pathogenic —
RS2128705596 GLI3 Health Risk Likely pathogenic —
RS2128705618 GLI3 Health Risk Pathogenic GLI3-related disorder, Greig cephalopolysyndactyly syndrome
RS2128705693 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128706315 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS2128706319 GLI3 Health Risk Pathogenic/Likely pathogenic Polydactyly, postaxial
RS2128706417 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128707546 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128707619 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128709746 TBX20 Health Risk Pathogenic —
RS2128709879 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS2128709888 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128709905 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS2128710014 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS2128710017 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, postaxial
RS2128710024 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128711268 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128712235 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128712297 GLI3 Health Risk Likely pathogenic Polydactyly, postaxial
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