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
RS1601583839 NF2 Health Risk Pathogenic SMARCB1-related schwannomatosis, Neurofibromatosis
RS1601586359 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1601592351 TCF20 Health Risk Pathogenic Hypotelorism, Generalized hypotonia
RS1601593180 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1601593340 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS1601596522 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1601596820 PDGFB Health Risk Likely pathogenic —
RS1601597286 TCF20 Health Risk Pathogenic —
RS1601598122 EP300 Health Risk Pathogenic —
RS1601598354 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601598682 TCF20 Health Risk Likely pathogenic —
RS1601599644 DEPDC5 Health Risk Pathogenic —
RS1601602492 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1601603552 TCF20 Health Risk Pathogenic —
RS1601607265 EP300 Health Risk Pathogenic —
RS1601610306 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601611973 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601612044 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS1601613230 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601613391 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601613749 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1601617062 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601617065 EP300 Health Risk Pathogenic —
RS1601618501 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS1601618585 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1601618646 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601618876 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601621480 EP300 Health Risk Pathogenic —
RS1601621506 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1601621514 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1601623271 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601623842 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1601624078 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601624296 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601624722 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601624754 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601624790 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601628237 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601629319 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1601632909 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1601633128 EP300 Health Risk Pathogenic —
RS1601633708 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601634247 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601636894 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601636935 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1601636972 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1601639680 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1601639958 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601640102 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601640325 EP300 Health Risk Pathogenic —
RS1601640370 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601641819 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601642812 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1601643866 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601643896 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601644130 NF2 Health Risk Pathogenic —
RS1601644146 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601648452 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601649018 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601649049 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601652425 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601666156 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601666191 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1601685358 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601687244 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601689006 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601697447 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601698058 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601702086 CHEK2 Health Risk Likely pathogenic Breast neoplasm, Hereditary cancer-predisposing syndrome
RS1601702414 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601702602 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601714299 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601715755 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1601715852 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601715859 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1601715865 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1601715996 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601716189 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601716482 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601716711 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601716727 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601716920 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1601717299 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1601717797 LZTR1 Health Risk Likely pathogenic —
RS1601717829 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1601718760 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Noonan syndrome
RS1601719186 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601719250 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601719287 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601719328 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601719449 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601719469 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601720308 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1601722136 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1601723175 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601723893 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Hereditary cancer-predisposing syndrome
RS1601727022 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601727263 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601727470 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601738338 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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