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
RS1553619196 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553619239 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1553619249 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553619258 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553619274 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1553619289 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1553619302 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1553619349 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553619373 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553619402 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553619415 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553619424 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1553619431 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619440 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619456 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS1553619461 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553619640 UNC80 Health Risk Likely pathogenic —
RS1553619688 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553619704 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553619713 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553619721 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1553619783 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553619948 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619952 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619956 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619957 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553619963 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619976 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553619993 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS1553620305 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553620312 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS1553620313 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1553620318 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS1553620326 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS1553620331 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553620362 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1553620494 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Intellectual disability
RS1553620849 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome, Crigler-Najjar syndrome
RS1553621179 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553621390 SETD5 Health Risk Pathogenic —
RS1553621490 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1553621496 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS1553621754 SETD5 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS1553621798 SETD5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553622081 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622103 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553622106 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553622145 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622160 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622164 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622168 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553622178 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622205 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553622215 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS1553622216 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553622218 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622261 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622277 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622282 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553622300 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622336 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553622337 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622342 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553622378 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622384 SETD5 Health Risk Pathogenic —
RS1553622397 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622436 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622471 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553622478 SETD5 Health Risk Likely pathogenic —
RS1553622487 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553622530 BARD1 Health Risk Pathogenic/Likely pathogenic Breast neoplasm, Familial cancer of breast
RS1553622534 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622542 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622554 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553622558 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622642 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622662 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622669 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553622675 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1553622681 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553622720 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553622735 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553623281 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS1553623299 SETD5 Health Risk Pathogenic SETD5-related disorder, SETD5-related disorder
RS1553623335 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS1553623367 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553623389 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS1553623880 SETD5 Health Risk Likely pathogenic —
RS1553624029 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1553624127 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553624173 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1553624186 TTN Health Risk Likely pathogenic Wolff-Parkinson-White pattern, Wolff-Parkinson-White pattern
RS1553624347 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS1553624468 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553624704 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553624714 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1553624758 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553624801 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553624802 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553624824 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
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