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
RS1583320505 COL11A2 Health Risk Likely pathogenic —
RS1583320992 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1583321194 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1583321782 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583321885 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583321984 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583323301 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583334346 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583335192 COL11A2 Health Risk Pathogenic Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1583345113 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583345314 EYA4 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1583345874 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583351636 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1583363851 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS1583364867 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583364895 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583366400 COL11A2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53
RS1583368813 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583374404 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583374436 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583374709 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1583375062 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583375132 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1583375182 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583387579 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583387894 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1583394539 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1583394618 CYCS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Thrombocytopenia 4
RS1583394629 CYCS Health Risk Likely pathogenic Thrombocytopenia, CYCS-related disorder
RS1583403114 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1583403496 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583409220 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583410315 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583410898 EYA4 Health Risk Pathogenic —
RS1583410952 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583411013 EYA4 Health Risk Pathogenic —
RS1583418616 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS1583419860 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 1
RS1583421520 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583438967 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1583439013 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583442540 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1583446897 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Polycystic kidney disease 4
RS1583447808 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1583451146 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583451360 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome
RS1583464090 ARID1B Health Risk Pathogenic —
RS1583469151 ARID1B Health Risk Pathogenic —
RS1583469292 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583469739 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1583469993 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583470073 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583475938 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583479670 ARID1B Health Risk Pathogenic —
RS1583479817 ARID1B Health Risk Pathogenic —
RS1583480465 ARID1B Health Risk Pathogenic —
RS1583487698 CRPPA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1583491381 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583491515 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583494731 GRM1 Health Risk Conflicting classifications of pathogenicity —
RS1583500173 ARID1B Health Risk Pathogenic —
RS1583500982 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1583502875 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1583505882 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1583508118 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583513256 ARID1B Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Coffin-Siris syndrome 1
RS1583513716 ARID1B Health Risk Pathogenic —
RS1583515557 ARID1B Health Risk Pathogenic —
RS1583516082 ARID1B Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Coffin-Siris syndrome 1
RS1583516200 ARID1B Health Risk Pathogenic —
RS1583517442 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583518354 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583536128 LAMA2 Health Risk Likely pathogenic —
RS1583555500 SERAC1 Health Risk Likely pathogenic —
RS1583567611 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583567778 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583570354 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583586843 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS1583589537 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1583590393 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1583591303 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1583591577 LAMA2 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1583591700 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1583591747 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, GCK-related disorder
RS1583591809 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1583592247 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1583594350 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583594501 GCK Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583595091 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1583596063 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583596119 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583596227 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583596378 GCK Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, Diabetes mellitus
RS1583596522 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1583596546 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583599303 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1583599749 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS1583601110 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1583601365 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1583604693 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
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