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
RS2130711906 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130712164 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130712718 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130713508 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130716088 RECQL4 Health Risk Likely pathogenic See cases, See cases
RS2130718160 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130718434 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome
RS2130719298 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2130719312 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2130719557 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS2130719686 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130720341 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130721404 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130721433 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130722124 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130722622 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130723893 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130727195 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130727371 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130727581 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS2130727900 TMEM67 Health Risk Likely pathogenic Joubert syndrome 6, Joubert syndrome 6
RS2130728045 NTNG2 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2130728440 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130728478 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130728507 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130728985 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130729321 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130735328 TMEM67 Health Risk Pathogenic/Likely pathogenic Anhydramnios, Enlarged kidney
RS2130735641 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2130735756 TMEM67 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS2130735808 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130735817 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2130736002 IKBKB Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2130736361 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130739402 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130740351 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130741439 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130745099 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130745290 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130745641 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2130745716 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130745875 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130745878 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130746001 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130746148 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130746906 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2130750698 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130754863 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS2130755261 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755275 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755422 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755457 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755572 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755717 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130755743 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130756068 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2130756107 NBN Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2130756322 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130757733 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS2130763590 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2130766198 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130766210 CPSF1 Health Risk Pathogenic —
RS2130769073 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2130770516 IFT56 Health Risk Pathogenic/Likely pathogenic Biliary, renal
RS2130783645 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130783742 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130785568 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130785617 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130785730 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2130794509 SLC39A4 Health Risk Likely pathogenic —
RS2130794868 SLC39A4 Health Risk Pathogenic —
RS2130795641 SLC39A4 Health Risk Likely pathogenic —
RS2130796422 SLC39A4 Health Risk Likely pathogenic —
RS2130796648 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS2130796764 SLC39A4 Health Risk Pathogenic —
RS2130797430 SLC39A4 Health Risk Pathogenic —
RS2130797713 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS2130798065 SLC39A4 Health Risk Pathogenic —
RS2130798128 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS2130798769 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS2130799141 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS2130799191 SLC39A4 Health Risk Pathogenic —
RS2130800155 SLC39A4 Health Risk Likely pathogenic —
RS2130800458 SLC39A4 Health Risk Likely pathogenic —
RS2130800933 SLC39A4 Health Risk Pathogenic —
RS2130801524 VLDLR Health Risk Likely pathogenic Dysequilibrium syndrome, Dysequilibrium syndrome
RS2130802268 SLC39A4 Health Risk Pathogenic —
RS2130802603 SLC39A4 Health Risk Pathogenic —
RS2130802793 SLC39A4 Health Risk Pathogenic —
RS2130804034 SLC39A4 Health Risk Likely pathogenic —
RS2130804157 SLC39A4 Health Risk Pathogenic —
RS2130804323 SLC39A4 Health Risk Pathogenic —
RS2130805147 HSD17B3 Health Risk Likely pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2130807292 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2130807297 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS2130810560 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130810631 VLDLR Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS2130810638 VLDLR Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2130810644 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130810847 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
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