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
RS2528829629 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528830046 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528830656 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528831048 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528831118 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528831733 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528832197 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528832277 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2528832399 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528832622 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528832831 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2528833324 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Muir-Torré syndrome
RS2528834064 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528834212 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528862231 NBAS Health Risk Pathogenic —
RS2528863416 NBAS Health Risk Likely pathogenic —
RS2528869693 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2528877481 PPP1R21 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS2528878801 NBAS Health Risk Likely pathogenic —
RS2528893606 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2528895050 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528895339 POMGNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2528895724 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528896591 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528896833 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2528897731 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2528897767 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528897807 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528899051 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528899322 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528899346 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528899509 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528899759 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528899846 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2528900013 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528901084 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528901120 MSH2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2528901662 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528901879 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528901921 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2528901997 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528902018 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528902527 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528902649 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528902757 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528904013 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528904480 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528904685 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528905012 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528905087 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528905305 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528905503 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528906126 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2528906140 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528906274 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528906464 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528906633 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528906662 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528906948 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528906991 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528907204 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528907310 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528907360 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2528907550 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528907638 MSH2 Health Risk Pathogenic Muir-Torré syndrome, Muir-Torré syndrome
RS2528907719 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528908237 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528908487 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528909129 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528909456 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528909555 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528909913 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528910500 FOXI3 Health Risk Pathogenic/Likely pathogenic Craniofacial microsomia 2, Craniofacial microsomia
RS2528910551 FOXI3 Health Risk Likely pathogenic Craniofacial microsomia, Craniofacial microsomia
RS2528910821 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528911040 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528911341 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528911447 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528911649 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528912849 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528913039 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528914696 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528915172 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528915235 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528915290 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528915382 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528915523 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2528916190 FOXI3 Health Risk Likely pathogenic Craniofacial microsomia 2, Craniofacial microsomia 2
RS2528916298 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2528917171 FOXI3 Health Risk Likely pathogenic Craniofacial microsomia, Craniofacial microsomia
RS2528917275 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2528938267 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528938452 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528938541 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528938619 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528938694 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528939015 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528939519 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528941040 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528941523 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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