SAMHD1 Chromosome 20

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
142 variants 142 Health Risk

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What This Gene Does
This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101347
Associated Conditions (8)
Aicardi-Goutieres syndrome 5
Inborn genetic diseases
Chilblain lupus 2
Aicardi Goutieres syndrome
Multiple myeloma
Melanoma
SAMHD1-related disorder
Cerebral palsy
Key Variants
RS1356154563
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
Health Risk
RS1399199211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
Health Risk
RS142162198
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS142393072
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS143588093
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
RS1448113794
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS145735112
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS147220022
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
RS147240777
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS150713148
Conflicting classifications of pathogenicity
Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
Health Risk
RS17853622
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS199721283
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
All Variants (142)
RSID Category Clinical Significance Conditions
RS1356154563 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1399199211 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS142162198 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS142393072 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS143588093 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS1448113794 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS145735112 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS147220022 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS147240777 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS150713148 Health Risk Conflicting classifications of pathogenicity Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS17853622 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS199721283 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS199896513 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Inborn genetic diseases, Aicardi-Goutieres syndrome 5
RS200458478 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS202024857 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS2515217377 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS368233437 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS373079404 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi Goutieres syndrome
RS750359968 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS756532676 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS765879627 Health Risk Conflicting classifications of pathogenicity Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS767413799 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS767971429 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Inborn genetic diseases
RS769968442 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS775726168 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi Goutieres syndrome
RS775762131 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS778647626 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS868763843 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS923362391 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Inborn genetic diseases
RS1192315307 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5
RS1251155562 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1303667371 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1410153662 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1473874262 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1600394490 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1601141002 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1700306908 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1990238054 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Melanoma, Aicardi-Goutieres syndrome 5
RS2146117027 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146119643 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2146137671 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515229076 Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi Goutieres syndrome
RS2515229165 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515244359 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515254153 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515258417 Health Risk Likely pathogenic SAMHD1-related disorder, SAMHD1-related disorder
RS2515264387 Health Risk Likely pathogenic Inborn genetic diseases, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS373731440 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS374561117 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS515726145 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Inborn genetic diseases, Aicardi-Goutieres syndrome 5
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