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
RS2145793028 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145793110 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145793644 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145793726 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145794013 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145794195 CHEK2 Health Risk Pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS2145794314 SLC7A9 Health Risk Pathogenic —
RS2145794535 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145794545 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2145794764 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145795264 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS2145795692 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS2145795850 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2145796039 GP1BB Health Risk Likely pathogenic —
RS2145796040 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145796172 GP1BB Health Risk Likely pathogenic —
RS2145796221 GP1BB Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2145796512 GP1BB Health Risk Likely pathogenic —
RS2145796556 GP1BB Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2145798387 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2145801216 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145801350 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145801378 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145802334 ERBB2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2145803112 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145803751 PLA2G6 Health Risk Conflicting classifications of pathogenicity —
RS2145804427 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145805017 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145805179 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145806157 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, CHEK2-related cancer predisposition
RS2145806264 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145806928 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145807103 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145807398 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145811711 ERBB2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2145813286 GREB1L Health Risk Likely pathogenic Hearing loss, autosomal dominant 80
RS2145813505 ERBB2 Health Risk Pathogenic Visceral neuropathy, familial
RS2145814066 SON Health Risk Pathogenic —
RS2145815261 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145815434 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145815556 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145815692 ATP6V0A1 Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
RS2145815915 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2145816035 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145816053 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145816069 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2145816590 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145816784 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2145817180 SON Health Risk Pathogenic —
RS2145817185 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145817523 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145817725 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145819152 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Cathepsin a-related arteriopathy-strokes-leukoencephalopathy
RS2145819270 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2145820777 SON Health Risk Pathogenic —
RS2145821217 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145822607 KDM4B Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2145823461 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2145824370 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2145824951 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2145824966 RAC2 Health Risk Pathogenic Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
RS2145825232 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS2145825816 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145825942 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145826394 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2145826423 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2145826463 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145826750 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145827538 ELMO2 Health Risk Pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS2145827552 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145827836 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Tetralogy of Fallot
RS2145827917 TBX1 Health Risk Pathogenic DiGeorge syndrome, Velocardiofacial syndrome
RS2145827929 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2145828175 SON Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2145828204 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2145828319 TBX1 Health Risk Likely pathogenic —
RS2145828435 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145828926 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145829352 SON Health Risk Pathogenic —
RS2145829543 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2145829990 BRIP1 Health Risk Pathogenic —
RS2145830162 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2145830181 RNASEH2A Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2145830278 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145830843 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145831260 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2145831490 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2145831520 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2145831560 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145832543 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS2145832569 TRIOBP Health Risk Pathogenic —
RS2145833294 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS2145833313 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS2145833327 TRIOBP Health Risk Likely pathogenic —
RS2145833916 SON Health Risk Pathogenic —
RS2145835194 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2145835560 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS2145835587 SON Health Risk Pathogenic —
RS2145836457 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2145836461 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
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