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
RS1695978385 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1695990121 XPC Health Risk Pathogenic —
RS1695999145 XPC Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS1696002966 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS1696021053 XPC Health Risk Pathogenic —
RS1696028787 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1696050737 XPC Health Risk Pathogenic —
RS1696067154 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1696081301 TRIM71 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS1696114029 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696118253 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696124265 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696124466 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696125033 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696126408 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696134947 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696140667 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696165411 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696167453 CHRNB2 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3
RS16961847 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS1696260542 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696261074 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696261924 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696262591 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696262643 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696264108 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS1696265107 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696266503 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696266605 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696312057 XPC Health Risk Pathogenic —
RS1696314718 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1696322307 SCN1A Health Risk Pathogenic —
RS1696330609 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS1696333581 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696338792 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696343406 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1696345066 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, GM1 gangliosidosis
RS1696346826 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1696354965 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696355438 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1696355550 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1696356078 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS1696356628 SATB1 Health Risk Pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS1696356978 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696357569 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1696358124 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1696368069 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1696373154 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1696391291 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1696398838 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696400496 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS1696401617 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1696403356 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1696403750 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696406839 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1696420304 XPC Health Risk Pathogenic —
RS1696451585 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1696452439 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1696466639 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1696468454 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1696468736 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1696475875 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1696563531 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1696575671 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1696602585 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696608635 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1696608702 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1696610594 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1696610650 EDAR Health Risk Likely pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1696610832 EDAR Health Risk Likely pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1696611932 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696613834 EDAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1696618804 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Severe myoclonic epilepsy in infancy
RS1696619508 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS1696621654 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1696624989 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS1696628056 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1696644780 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS1696658542 NCKAP1 Health Risk Pathogenic Autistic behavior, Autistic behavior
RS1696660743 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1696673743 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696675107 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1696679400 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1696701349 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS1696704929 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1696706093 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1696713042 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1696721808 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1696805635 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1696805876 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1696816233 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS1696865258 SCN1A Health Risk Pathogenic —
RS1696880667 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1696883051 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1696888691 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1696890186 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1696896431 ADAR Health Risk Likely pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1696912764 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1696919284 ADAR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1696922090 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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