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
RS1554294459 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554294478 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1554294505 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS1554294508 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554294593 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554294665 ARID1B Health Risk Pathogenic —
RS1554294674 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554294698 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554295159 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1554295204 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554295876 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554295967 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1554296088 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1554297036 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297040 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297058 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297061 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554297082 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1554297097 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1554297100 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297114 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297125 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297153 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS1554297164 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297188 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297205 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1554297242 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554297285 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1554297342 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS1554297399 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554297427 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297488 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 4
RS1554297497 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297523 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1554297534 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297564 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1554297592 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297636 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1554297727 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1554297760 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297764 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297781 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554297877 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554297905 RALA Health Risk Pathogenic Inborn genetic diseases, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS1554297919 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554297962 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298007 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298056 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298067 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298082 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 1
RS1554298087 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554298091 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298100 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554298232 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554298239 ARID1B Health Risk Conflicting classifications of pathogenicity See cases, Coffin-Siris syndrome 1
RS1554298741 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554298756 PMS2 Health Risk Pathogenic/Likely pathogenic Colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS1554298786 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554299291 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554299430 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554299737 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1554299897 LAMA2 Health Risk Likely pathogenic —
RS1554300194 CRPPA Health Risk Pathogenic —
RS1554300301 CRPPA Health Risk Likely pathogenic —
RS1554300376 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554300601 BMPER Health Risk Pathogenic/Likely pathogenic Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS1554300664 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS1554300689 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554300763 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554300796 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS1554300952 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1554301230 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554301257 ARID1B Health Risk Pathogenic Autism spectrum disorder, Coffin-Siris syndrome 1
RS1554301486 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554301495 PMS2 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colon cancer
RS1554301561 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554301637 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554301854 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554301883 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554302295 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554302537 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554302551 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554303791 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1554303800 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1554303861 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1554303937 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554304135 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554304247 GLI3 Health Risk Pathogenic —
RS1554304254 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1554304258 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554304380 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1554304508 GLI3 Health Risk Likely pathogenic —
RS1554304513 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1554304637 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1554304655 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554304696 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1554304745 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS1554304931 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554304934 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1554304940 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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