rs1800440 - SNP

Select item 18004401.

rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

PubMed LitVar

Select item 3865455802.

rs386545580 has merged into rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

Select item 568795353.

rs56879535 has merged into rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

Select item 174053024.

rs17405302 has merged into rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

Select item 49868865.

rs4986886 has merged into rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

Select item 41345866.

rs4134586 has merged into rs1800440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:38070996 (GRCh38)
2:38298139 (GRCh37)
Canonical SPDI:: NC_000002.12:38070995:T:C,NC_000002.12:38070995:T:G
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.172172/59958 (ALFA)
C=0./0 (PRJEB36033)
C=0.001486/25 (TOMMO)
C=0.004791/14 (KOREAN)
C=0.011364/9 (PRJEB37584)
C=0.075883/5972 (PAGE_STUDY)
C=0.087789/289 (PRJEB37766)
C=0.09822/492 (1000Genomes)
C=0.099024/142 (HapMap)
C=0.1/4 (GENOME_DK)
C=0.112764/235 (HGDP_Stanford)
C=0.11942/535 (Estonian)
C=0.124315/32905 (TOPMED)
C=0.134938/1755 (GoESP)
C=0.138158/42 (FINRISK)
C=0.138889/30 (Qatari)
C=0.161667/97 (NorthernSweden)
C=0.176959/682 (ALSPAC)
C=0.182365/182 (GoNL)
C=0.191478/710 (TWINSUK)
C=0.194757/104 (MGP)
C=0.203039/147 (PharmGKB)
T=0.3125/5 (Siberian)
T=0.43/43 (SGDP_PRJ)
HGVS:: NC_000002.12:g.38070996T>C, NC_000002.12:g.38070996T>G, NC_000002.11:g.38298139T>C, NC_000002.11:g.38298139T>G, NG_008386.2:g.10106A>G, NG_008386.2:g.10106A>C, NM_000104.4:c.1358A>G, NM_000104.4:c.1358A>C, NM_000104.3:c.1358A>G, NM_000104.3:c.1358A>C, NP_000095.2:p.Asn453Ser, NP_000095.2:p.Asn453Thr

dbSNP

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