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
RS2090684427 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090696292 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090696366 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090699166 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090699833 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090721527 ELP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2090722556 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090759946 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS2090775918 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090782357 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090784195 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090784564 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090784696 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090785469 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090788449 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090789401 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090792717 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090805113 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS2090805858 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090829910 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
RS2090846146 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2090848106 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, 8 conditions
RS2090851576 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090865014 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090865155 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090871271 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090875352 KCNMA1 Health Risk Likely pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS2090909751 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2090929102 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090933372 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090953993 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2090962038 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2090965484 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS2090974560 GNAS Health Risk Likely pathogenic —
RS2090976265 GNAS Health Risk Pathogenic/Likely pathogenic —
RS2090976492 GNAS Health Risk Conflicting classifications of pathogenicity —
RS2090998416 CCNQ Health Risk Pathogenic —
RS2091014318 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2091048308 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091055139 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2091055727 TSC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2091058869 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2091060104 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2091068134 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2091085832 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2091087487 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091089201 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091092273 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2091100543 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091103854 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091139939 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2091142154 DYSF Health Risk Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS2091144091 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2091147162 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091153561 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091196149 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Severe congenital neutropenia
RS2091196613 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2091198449 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2091199299 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2091199523 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2091200503 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2091205948 DEPDC5 Health Risk Likely pathogenic —
RS2091208125 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2091211325 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2091244384 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Breast and/or ovarian cancer
RS2091249987 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2091250180 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2091259890 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS2091262473 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2091262802 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2091262986 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2091270014 GNAS Health Risk Pathogenic —
RS2091272733 GNAS Health Risk Pathogenic —
RS2091273665 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2091273769 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, Albright hereditary osteodystrophy
RS2091275452 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2091299213 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2091303526 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2091313766 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2091331588 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2091346076 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS2091357682 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2091380655 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS2091390332 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS2091391674 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2091395464 PKD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Polycystic kidney disease
RS2091397048 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091400232 PKD1 Health Risk Pathogenic —
RS2091400717 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091410164 PKD1 Health Risk Likely pathogenic —
RS2091411664 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2091413514 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2091431794 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091435565 PKD1 Health Risk Pathogenic —
RS2091437670 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091437893 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091438383 PKD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2091440383 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091440547 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091442608 PKD1 Health Risk Pathogenic —
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