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
RS2106077292 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106077295 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106079710 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106080813 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106081379 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2106081592 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106086566 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106088185 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106088642 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2106089689 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106089798 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106094950 PAX3 Health Risk Pathogenic Craniofacial-deafness-hand syndrome, Craniofacial-deafness-hand syndrome
RS2106095025 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106095147 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106102271 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2106102324 ALS2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS2106102918 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS2106103778 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2106107923 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106107966 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106108347 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106108500 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106108582 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106108885 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106108903 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2106109048 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106109125 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2106109159 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106109435 CXCR2 Health Risk Pathogenic WHIM syndrome 2, WHIM syndrome 2
RS2106109750 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106110019 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106110129 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106110358 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106110487 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106110712 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2106110871 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106111008 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106111411 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106111914 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106112637 BARD1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2106112761 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2106113137 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106113312 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106114422 OBSL1 Health Risk Pathogenic —
RS2106116333 CPS1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, neonatal
RS2106116608 MRPL44 Health Risk Pathogenic Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
RS2106118762 OBSL1 Health Risk Pathogenic —
RS2106124828 COL4A3 Health Risk Likely pathogenic —
RS2106126181 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106126478 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2106132144 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS2106134408 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2106134415 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2106134639 BARD1 Health Risk Pathogenic BARD1-related cancer predisposition, Familial cancer of breast
RS2106134966 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS2106135008 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106135360 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106135562 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106135644 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2106145519 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2106145629 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106147306 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2106147774 COL4A3 Health Risk Likely pathogenic —
RS2106151184 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2106151229 SCN2A Health Risk Likely pathogenic —
RS2106151385 COL4A3 Health Risk Pathogenic —
RS2106151987 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2106152005 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS2106152180 CUL3 Health Risk Pathogenic —
RS2106154439 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2106164384 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Alport syndrome 3b
RS2106164697 COL4A3 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2106164814 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS2106170807 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106171232 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106171367 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2106171752 COL4A3 Health Risk Pathogenic —
RS2106172051 COL4A3 Health Risk Pathogenic —
RS2106174926 COL4A3 Health Risk Likely pathogenic —
RS2106175500 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome 3b
RS2106183039 ECEL1 Health Risk Pathogenic —
RS2106185000 ECEL1 Health Risk Pathogenic —
RS2106196576 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106196612 CUL3 Health Risk Pathogenic CUL3-related disorder, CUL3-related disorder
RS2106196630 CUL3 Health Risk Likely pathogenic CUL3-related disorder, CUL3-related disorder
RS2106196885 PAX3 Health Risk Pathogenic —
RS2106196907 PAX3 Health Risk Pathogenic —
RS2106197058 DAW1 Health Risk Pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS2106200388 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome
RS2106200406 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106201680 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2106202524 CUL3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106202854 CUL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2106203654 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106203729 PAX3 Health Risk Pathogenic —
RS2106203794 PAX3 Health Risk Likely pathogenic —
RS2106203892 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106203978 PAX3 Health Risk Pathogenic —
RS2106204266 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2106205676 CHRND Health Risk Likely pathogenic Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B
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