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
RS1965352990 CRYAB Health Risk Pathogenic Myofibrillar myopathy 2, Myofibrillar myopathy 2
RS1965414571 CRYAB Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1II, Cardiovascular phenotype
RS1965431981 VPS4A Health Risk Likely pathogenic Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
RS1965456387 CRYAB Health Risk Pathogenic Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
RS1965461881 CRYAB Health Risk Pathogenic Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
RS1965462205 CRYAB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1II
RS1965484288 VPS4A Health Risk Pathogenic Syndromic congenital hemolytic and dyserythropoietic anemia, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
RS1965484443 VPS4A Health Risk Pathogenic Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
RS1965499910 VPS4A Health Risk Pathogenic Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, Syndromic congenital hemolytic and dyserythropoietic anemia
RS1965716874 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1965729129 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1965732404 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1965741911 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1965755740 UMOD Health Risk Likely pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1
RS1965764292 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1965773773 LAT Health Risk Pathogenic —
RS1965837844 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1965977480 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1966212821 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1966218490 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Meckel syndrome
RS1966394024 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966399624 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966403904 PALB2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group N, Familial cancer of breast
RS1966404530 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966406887 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966500186 RPGRIP1L Health Risk Pathogenic Meckel syndrome, type 5
RS1966506715 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966507642 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1966508003 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966508734 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966509824 ORC6 Health Risk Pathogenic —
RS1966509881 PALB2 Health Risk Pathogenic Familial cancer of breast, Gastric cancer
RS1966510483 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1966510490 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966510953 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1966511029 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1966511830 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966516920 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1966637056 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966771199 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966771907 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966773290 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966773679 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966797789 PALB2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1966798806 PALB2 Health Risk Pathogenic/Likely pathogenic Pancreatic cancer, susceptibility to
RS1966800194 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966801432 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966803657 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1966828330 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1966828376 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1966842247 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966842281 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966842388 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966842668 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966842713 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966842803 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966843131 COL4A4 Health Risk Likely pathogenic —
RS1966853670 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966853795 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966854164 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966855329 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1966855544 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966855759 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966856088 PALB2 Health Risk Pathogenic —
RS1966856585 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966856604 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS1966856613 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966856749 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966856854 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966856962 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966857445 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966858159 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966858562 PALB2 Health Risk Pathogenic Familial cancer of breast, Gastric cancer
RS1966861838 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966861886 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966861906 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966861952 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966862226 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966862297 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966862408 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966863076 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966863209 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966863975 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966864164 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966864847 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966865170 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966865214 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966865368 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966865768 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1966865838 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1966866081 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966866430 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1966866862 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1966895533 OTOA Health Risk Likely pathogenic —
RS1966897756 OTOA Health Risk Likely pathogenic —
RS1966899604 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1966900746 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1966902456 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1966904003 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS1966917399 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
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