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
RS121909353 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS121909357 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909358 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Hypercholesterolemia
RS121909359 GHR Health Risk Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome
RS121909360 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Hypercholesterolemia
RS121909361 GHR Health Risk Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency, Growth hormone insensitivity syndrome
RS121909362 GHR Health Risk Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect
RS121909363 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Hypercholesterolemia
RS121909364 GHR Health Risk Pathogenic Laron syndrome with undetectable serum GH-binding protein, Laron syndrome with undetectable serum GH-binding protein
RS121909365 GHR Health Risk Likely pathogenic Laron syndrome with undetectable serum GH-binding protein, Growth hormone insensitivity syndrome
RS121909366 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Monogenic short statue
RS121909367 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909368 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909369 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909370 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome
RS121909371 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909372 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909373 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS121909374 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy
RS121909375 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS121909377 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS121909378 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS121909379 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS121909380 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS121909382 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS121909383 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Renal tubular acidosis
RS121909384 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS121909385 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS121909386 SLC16A12 Health Risk Pathogenic Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
RS121909387 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS121909388 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS121909389 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy
RS121909390 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS121909391 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS121909392 SLC4A11 Health Risk Pathogenic/Likely pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy
RS121909393 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS121909394 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS121909395 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS121909396 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS121909397 LMF1 Health Risk Pathogenic Lipase deficiency, combined
RS121909398 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa
RS121909447 GLYCTK Health Risk Pathogenic D-Glyceric aciduria, D-Glyceric aciduria
RS121909448 GLYCTK Health Risk Conflicting classifications of pathogenicity D-Glyceric aciduria, D-Glyceric aciduria
RS121909449 GLYCTK Health Risk Pathogenic D-Glyceric aciduria, D-Glyceric aciduria
RS121909450 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS121909484 SLC33A1 Health Risk Pathogenic Hereditary spastic paraplegia 42, Hereditary spastic paraplegia 42
RS121909485 TSFM Health Risk Pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Inborn genetic diseases
RS121909486 LMX1B Health Risk Pathogenic/Likely pathogenic Nail-patella syndrome, Nail-patella-like renal disease
RS121909487 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS121909488 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS121909489 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella-like renal disease
RS121909490 LMX1B Health Risk Pathogenic/Likely pathogenic Nail-patella syndrome, Inborn genetic diseases
RS121909491 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, LMX1B-related disorder
RS121909492 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS121909493 MAMLD1 Health Risk Pathogenic Hypospadias 2, X-linked
RS121909494 MAMLD1 Health Risk Pathogenic Hypospadias 2, X-linked
RS121909495 MAMLD1 Health Risk Pathogenic Hypospadias 2, X-linked
RS121909496 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS121909497 MMP13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Missouri type
RS121909498 MMP13 Health Risk Pathogenic Metaphyseal anadysplasia 1, autosomal dominant
RS121909499 MMP13 Health Risk Pathogenic Metaphyseal anadysplasia 1, autosomal dominant
RS121909500 MMP13 Health Risk Pathogenic Metaphyseal chondrodysplasia, Spahr type
RS121909502 CHRND Health Risk Likely pathogenic Congenital myasthenic syndrome 3A, Lethal multiple pterygium syndrome
RS121909503 CHRND Health Risk Pathogenic Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B
RS121909504 CHRND Health Risk Pathogenic Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B
RS121909505 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B
RS121909506 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS121909508 CHRND Health Risk Pathogenic Congenital myasthenic syndrome 3B, Congenital myasthenic syndrome 3B
RS121909510 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS121909511 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS121909512 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS121909513 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS121909514 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS121909515 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS121909516 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS121909517 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS121909518 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS121909519 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, ACTA1-related myopathies
RS121909520 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS121909521 ACTA1 Health Risk Pathogenic Congenital myopathy 2b, severe infantile
RS121909522 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Congenital myopathy 2c
RS121909523 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, ACTA1-related myopathies
RS121909524 ACTA1 Health Risk Likely pathogenic Congenital myopathy 2c, severe infantile
RS121909525 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Neuromuscular disease
RS121909526 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS121909527 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS121909528 ACTA1 Health Risk Likely pathogenic Alpha-actinopathy, Actin accumulation myopathy
RS121909529 ACTA1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS121909530 ACTA1 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS121909531 ACTA1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS121909533 ALDOA Health Risk Pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS121909534 ALDOA Health Risk Pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS121909535 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909536 ANG Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, ANG-related disorder
RS121909537 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909538 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909539 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909540 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909541 ANG Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, ANG-related disorder
RS121909542 ANG Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
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