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
RS2544880759 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544880866 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544882689 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2544882746 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544882794 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS2544882902 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2544883033 PKD1 Health Risk Pathogenic —
RS2544883148 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2544883158 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544883301 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544884834 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2544885084 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS2544886159 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544889035 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS2544892498 DNAH9 Health Risk Likely pathogenic —
RS2544896839 DNAH9 Health Risk Pathogenic —
RS2544915127 CCDC88A Health Risk Pathogenic —
RS2544931486 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2544939617 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544947582 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544948127 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544948285 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544953720 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544954683 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544954705 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2544958343 CHD3 Health Risk Likely pathogenic CHD3-related disorder, CHD3-related disorder
RS2544958440 CHD3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544958607 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544958956 TRIM37 Health Risk Pathogenic —
RS2544959967 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2544960078 PKD1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2544960411 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544960516 PKD1 Health Risk Pathogenic —
RS2544960532 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2544960575 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544960791 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2544961254 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2544964555 TRAIP Health Risk Pathogenic —
RS2544964696 TRAIP Health Risk Pathogenic —
RS2544968917 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS2544970858 TRAIP Health Risk Pathogenic —
RS2544971701 OBSCN Health Risk Pathogenic —
RS2544986066 OBSCN Health Risk Pathogenic —
RS2544988908 TRAIP Health Risk Pathogenic —
RS2544993085 TUBA4A Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
RS2544995427 STK16;TUBA4A;TUBA4B Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 22, Spastic ataxia 11
RS2544996008 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544996152 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2544996237 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544996423 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544996471 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2544996596 TRIM37 Health Risk Pathogenic —
RS2544996719 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2544996726 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2544996842 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2544997208 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544999100 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2544999240 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2544999933 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545006166 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545007278 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545007312 TRAF7 Health Risk Likely pathogenic —
RS2545008174 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545010995 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Familial cancer of breast
RS2545011269 FOXP1 Health Risk Pathogenic See cases, See cases
RS2545012659 TRAF7 Health Risk Likely pathogenic Cardiac, facial
RS2545017339 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545017859 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545018399 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545018697 CHD3 Health Risk Conflicting classifications of pathogenicity CHD3-related disorder, CHD3-related disorder
RS2545018939 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545018983 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545019279 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545019503 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2545021116 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545021377 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545026298 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545027187 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545027623 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545027670 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2545028042 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545028296 DNAJB2 Health Risk Likely pathogenic DNAJB2-related disorder, DNAJB2-related disorder
RS2545028426 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545028503 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545029519 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545030097 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545030237 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545030351 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545030956 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545030997 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545031289 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545031648 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545032347 CHD3 Health Risk Likely pathogenic CHD3-related disorder, CHD3-related disorder
RS2545032491 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545045078 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545045592 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545046414 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2545047340 FOXP1 Health Risk Likely pathogenic —
RS2545048376 PTH1R Health Risk Pathogenic See cases, See cases
RS2545049550 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
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