rs17576 - SNP

Select item 175761.

rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

PubMed LitVar

Select item 612314742.

rs61231474 has merged into rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

Select item 528004213.

rs52800421 has merged into rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

Select item 178578514.

rs17857851 has merged into rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

Select item 178450695.

rs17845069 has merged into rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

Select item 26645386.

rs2664538 has merged into rs17576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:46011586 (GRCh38)
20:44640225 (GRCh37)
Canonical SPDI:: NC_000020.11:46011585:A:C,NC_000020.11:46011585:A:G,NC_000020.11:46011585:A:T
Gene:: MMP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.355297/101305 (ALFA)
T=0./0 (KOREAN)
G=0.25/22 (PRJEB36033)
A=0.309896/238 (PRJEB37584)
A=0.310651/105 (SGDP_PRJ)
G=0.312734/167 (MGP)
A=0.329148/603 (Korea1K)
G=0.347839/4524 (GoESP)
A=0.353886/5930 (TOMMO)
G=0.355012/93968 (TOPMED)
G=0.355178/1317 (TWINSUK)
G=0.358329/1381 (ALSPAC)
G=0.359122/50099 (GnomAD)
G=0.362725/362 (GoNL)
G=0.375/114 (FINRISK)
G=0.376813/29558 (PAGE_STUDY)
G=0.389253/97838 (GnomAD_exomes)
G=0.39/234 (NorthernSweden)
G=0.392022/47546 (ExAC)
G=0.393519/85 (Qatari)
G=0.398746/445 (Daghestan)
G=0.415547/866 (HGDP_Stanford)
A=0.416667/15 (Siberian)
G=0.425/17 (GENOME_DK)
G=0.426339/1910 (Estonian)
G=0.441443/2211 (1000Genomes)
G=0.468288/886 (HapMap)
HGVS:: NC_000020.11:g.46011586A>C, NC_000020.11:g.46011586A>G, NC_000020.11:g.46011586A>T, NC_000020.10:g.44640225A>C, NC_000020.10:g.44640225A>G, NC_000020.10:g.44640225A>T, NG_011468.1:g.7679A>C, NG_011468.1:g.7679A>G, NG_011468.1:g.7679A>T, NM_004994.3:c.836A>C, NM_004994.3:c.836A>G, NM_004994.3:c.836A>T, NM_004994.2:c.836A>C, NM_004994.2:c.836A>G, NM_004994.2:c.836A>T, NP_004985.2:p.Gln279Pro, NP_004985.2:p.Gln279Arg, NP_004985.2:p.Gln279Leu

dbSNP

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