SNP Links for Protein (Select 4505221) - SNP

Select item 14887632451.

rs1488763245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:102714665 (GRCh38)
11:102585396 (GRCh37)
Canonical SPDI:: NC_000011.10:102714664:A:C
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000011.10:g.102714665A>C, NC_000011.9:g.102585396A>C, NG_012101.1:g.15290T>G, NM_002424.3:c.1081T>G, NM_002424.2:c.1081T>G, NM_001304441.2:c.1012T>G, NM_001304441.1:c.1012T>G, NM_001304442.2:c.1012T>G, NM_001304442.1:c.1012T>G, XM_011542835.3:c.1012T>G, XM_011542835.2:c.1012T>G, XM_011542835.1:c.1012T>G, XM_011542834.3:c.1108T>G, XM_011542834.2:c.1108T>G, XM_011542834.1:c.1108T>G, XM_047426965.1:c.1012T>G, NP_002415.1:p.Tyr361Asp, NP_001291370.1:p.Tyr338Asp, NP_001291371.1:p.Tyr338Asp, XP_011541137.1:p.Tyr338Asp, XP_011541136.1:p.Tyr370Asp, XP_047282921.1:p.Tyr338Asp

Select item 14868031352.

rs1486803135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:102715313 (GRCh38)
11:102586044 (GRCh37)
Canonical SPDI:: NC_000011.10:102715312:G:A
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.102715313G>A, NC_000011.9:g.102586044G>A, NG_012101.1:g.14642C>T, NM_002424.3:c.1027C>T, NM_002424.2:c.1027C>T, NM_001304441.2:c.958C>T, NM_001304441.1:c.958C>T, NM_001304442.2:c.958C>T, NM_001304442.1:c.958C>T, XM_011542835.3:c.958C>T, XM_011542835.2:c.958C>T, XM_011542835.1:c.958C>T, XM_011542834.3:c.1054C>T, XM_011542834.2:c.1054C>T, XM_011542834.1:c.1054C>T, XM_047426965.1:c.958C>T, XM_047426966.1:c.1054C>T

Select item 14866873503.

rs1486687350 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:102716388 (GRCh38)
11:102587119 (GRCh37)
Canonical SPDI:: NC_000011.10:102716387:T:
Gene:: MMP8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.102716388del, NC_000011.9:g.102587119del, NG_012101.1:g.13567del, NM_002424.3:c.816del, NM_002424.2:c.816del, NM_001304441.2:c.747del, NM_001304441.1:c.747del, NM_001304442.2:c.747del, NM_001304442.1:c.747del, XM_011542835.3:c.747del, XM_011542835.2:c.747del, XM_011542835.1:c.747del, XM_011542834.3:c.843del, XM_011542834.2:c.843del, XM_011542834.1:c.843del, XM_047426965.1:c.747del, XM_047426966.1:c.843del, NP_002415.1:p.Pro273fs, NP_001291370.1:p.Pro250fs, NP_001291371.1:p.Pro250fs, XP_011541137.1:p.Pro250fs, XP_011541136.1:p.Pro282fs, XP_047282921.1:p.Pro250fs, XP_047282922.1:p.Pro282fs

Select item 14865121884.

rs1486512188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:102721637 (GRCh38)
11:102592368 (GRCh37)
Canonical SPDI:: NC_000011.10:102721636:A:T
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102721637A>T, NC_000011.9:g.102592368A>T, NG_012101.1:g.8318T>A, NM_002424.3:c.473T>A, NM_002424.2:c.473T>A, NM_001304441.2:c.404T>A, NM_001304441.1:c.404T>A, NM_001304442.2:c.404T>A, NM_001304442.1:c.404T>A, XM_011542835.3:c.404T>A, XM_011542835.2:c.404T>A, XM_011542835.1:c.404T>A, XM_011542834.3:c.500T>A, XM_011542834.2:c.500T>A, XM_011542834.1:c.500T>A, XM_047426965.1:c.404T>A, XM_047426966.1:c.500T>A, NP_002415.1:p.Ile158Asn, NP_001291370.1:p.Ile135Asn, NP_001291371.1:p.Ile135Asn, XP_011541137.1:p.Ile135Asn, XP_011541136.1:p.Ile167Asn, XP_047282921.1:p.Ile135Asn, XP_047282922.1:p.Ile167Asn

Select item 14862131085.

rs1486213108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:102722590 (GRCh38)
11:102593321 (GRCh37)
Canonical SPDI:: NC_000011.10:102722589:C:T
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102722590C>T, NC_000011.9:g.102593321C>T, NG_012101.1:g.7365G>A, NM_002424.3:c.186G>A, NM_002424.2:c.186G>A, NM_001304441.2:c.117G>A, NM_001304441.1:c.117G>A, NM_001304442.2:c.117G>A, NM_001304442.1:c.117G>A, XM_011542835.3:c.117G>A, XM_011542835.2:c.117G>A, XM_011542835.1:c.117G>A, XM_011542834.3:c.213G>A, XM_011542834.2:c.213G>A, XM_011542834.1:c.213G>A, XM_047426965.1:c.117G>A, XM_047426966.1:c.213G>A

Select item 14861790886.

rs1486179088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:102718560 (GRCh38)
11:102589291 (GRCh37)
Canonical SPDI:: NC_000011.10:102718559:A:G
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.102718560A>G, NC_000011.9:g.102589291A>G, NG_012101.1:g.11395T>C, NM_002424.3:c.638T>C, NM_002424.2:c.638T>C, NM_001304441.2:c.569T>C, NM_001304441.1:c.569T>C, NM_001304442.2:c.569T>C, NM_001304442.1:c.569T>C, XM_011542835.3:c.569T>C, XM_011542835.2:c.569T>C, XM_011542835.1:c.569T>C, XM_011542834.3:c.665T>C, XM_011542834.2:c.665T>C, XM_011542834.1:c.665T>C, XM_047426965.1:c.569T>C, XM_047426966.1:c.665T>C, NP_002415.1:p.Leu213Pro, NP_001291370.1:p.Leu190Pro, NP_001291371.1:p.Leu190Pro, XP_011541137.1:p.Leu190Pro, XP_011541136.1:p.Leu222Pro, XP_047282921.1:p.Leu190Pro, XP_047282922.1:p.Leu222Pro

Select item 14858807097.

rs1485880709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:102716362 (GRCh38)
11:102587093 (GRCh37)
Canonical SPDI:: NC_000011.10:102716361:G:A,NC_000011.10:102716361:G:C
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.102716362G>A, NC_000011.10:g.102716362G>C, NC_000011.9:g.102587093G>A, NC_000011.9:g.102587093G>C, NG_012101.1:g.13593C>T, NG_012101.1:g.13593C>G, NM_002424.3:c.842C>T, NM_002424.3:c.842C>G, NM_002424.2:c.842C>T, NM_002424.2:c.842C>G, NM_001304441.2:c.773C>T, NM_001304441.2:c.773C>G, NM_001304441.1:c.773C>T, NM_001304441.1:c.773C>G, NM_001304442.2:c.773C>T, NM_001304442.2:c.773C>G, NM_001304442.1:c.773C>T, NM_001304442.1:c.773C>G, XM_011542835.3:c.773C>T, XM_011542835.3:c.773C>G, XM_011542835.2:c.773C>T, XM_011542835.2:c.773C>G, XM_011542835.1:c.773C>T, XM_011542835.1:c.773C>G, XM_011542834.3:c.869C>T, XM_011542834.3:c.869C>G, XM_011542834.2:c.869C>T, XM_011542834.2:c.869C>G, XM_011542834.1:c.869C>T, XM_011542834.1:c.869C>G, XM_047426965.1:c.773C>T, XM_047426965.1:c.773C>G, XM_047426966.1:c.869C>T, XM_047426966.1:c.869C>G, NP_002415.1:p.Pro281Leu, NP_002415.1:p.Pro281Arg, NP_001291370.1:p.Pro258Leu, NP_001291370.1:p.Pro258Arg, NP_001291371.1:p.Pro258Leu, NP_001291371.1:p.Pro258Arg, XP_011541137.1:p.Pro258Leu, XP_011541137.1:p.Pro258Arg, XP_011541136.1:p.Pro290Leu, XP_011541136.1:p.Pro290Arg, XP_047282921.1:p.Pro258Leu, XP_047282921.1:p.Pro258Arg, XP_047282922.1:p.Pro290Leu, XP_047282922.1:p.Pro290Arg

Select item 14855513688.

rs1485551368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102721681 (GRCh38)
11:102592412 (GRCh37)
Canonical SPDI:: NC_000011.10:102721680:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.102721681T>C, NC_000011.9:g.102592412T>C, NG_012101.1:g.8274A>G, NM_002424.3:c.429A>G, NM_002424.2:c.429A>G, NM_001304441.2:c.360A>G, NM_001304441.1:c.360A>G, NM_001304442.2:c.360A>G, NM_001304442.1:c.360A>G, XM_011542835.3:c.360A>G, XM_011542835.2:c.360A>G, XM_011542835.1:c.360A>G, XM_011542834.3:c.456A>G, XM_011542834.2:c.456A>G, XM_011542834.1:c.456A>G, XM_047426965.1:c.360A>G, XM_047426966.1:c.456A>G

Select item 14844753699.

rs1484475369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:102713793 (GRCh38)
11:102584524 (GRCh37)
Canonical SPDI:: NC_000011.10:102713792:C:A
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.102713793C>A, NC_000011.9:g.102584524C>A, NG_012101.1:g.16162G>T, NM_002424.3:c.1255G>T, NM_002424.2:c.1255G>T, NM_001304441.2:c.1186G>T, NM_001304441.1:c.1186G>T, NM_001304442.2:c.1186G>T, NM_001304442.1:c.1186G>T, XM_011542835.3:c.1186G>T, XM_011542835.2:c.1186G>T, XM_011542835.1:c.1186G>T, XM_011542834.3:c.1282G>T, XM_011542834.2:c.1282G>T, XM_011542834.1:c.1282G>T, XM_047426965.1:c.1186G>T, XM_047426966.1:c.1128G>T, NP_002415.1:p.Gly419Ter, NP_001291370.1:p.Gly396Ter, NP_001291371.1:p.Gly396Ter, XP_011541137.1:p.Gly396Ter, XP_011541136.1:p.Gly428Ter, XP_047282921.1:p.Gly396Ter, XP_047282922.1:p.Gln376His

Select item 147954561910.

rs1479545619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:102721699 (GRCh38)
11:102592430 (GRCh37)
Canonical SPDI:: NC_000011.10:102721698:A:G
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102721699A>G, NC_000011.9:g.102592430A>G, NG_012101.1:g.8256T>C, NM_002424.3:c.411T>C, NM_002424.2:c.411T>C, NM_001304441.2:c.342T>C, NM_001304441.1:c.342T>C, NM_001304442.2:c.342T>C, NM_001304442.1:c.342T>C, XM_011542835.3:c.342T>C, XM_011542835.2:c.342T>C, XM_011542835.1:c.342T>C, XM_011542834.3:c.438T>C, XM_011542834.2:c.438T>C, XM_011542834.1:c.438T>C, XM_047426965.1:c.342T>C, XM_047426966.1:c.438T>C

Select item 147736038911.

rs1477360389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102715435 (GRCh38)
11:102586166 (GRCh37)
Canonical SPDI:: NC_000011.10:102715434:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102715435T>C, NC_000011.9:g.102586166T>C, NG_012101.1:g.14520A>G, NM_002424.3:c.905A>G, NM_002424.2:c.905A>G, NM_001304441.2:c.836A>G, NM_001304441.1:c.836A>G, NM_001304442.2:c.836A>G, NM_001304442.1:c.836A>G, XM_011542835.3:c.836A>G, XM_011542835.2:c.836A>G, XM_011542835.1:c.836A>G, XM_011542834.3:c.932A>G, XM_011542834.2:c.932A>G, XM_011542834.1:c.932A>G, XM_047426965.1:c.836A>G, XM_047426966.1:c.932A>G, NP_002415.1:p.Tyr302Cys, NP_001291370.1:p.Tyr279Cys, NP_001291371.1:p.Tyr279Cys, XP_011541137.1:p.Tyr279Cys, XP_011541136.1:p.Tyr311Cys, XP_047282921.1:p.Tyr279Cys, XP_047282922.1:p.Tyr311Cys

Select item 147532044112.

rs1475320441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:102722614 (GRCh38)
11:102593345 (GRCh37)
Canonical SPDI:: NC_000011.10:102722613:A:G
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.102722614A>G, NC_000011.9:g.102593345A>G, NG_012101.1:g.7341T>C, NM_002424.3:c.162T>C, NM_002424.2:c.162T>C, NM_001304441.2:c.93T>C, NM_001304441.1:c.93T>C, NM_001304442.2:c.93T>C, NM_001304442.1:c.93T>C, XM_011542835.3:c.93T>C, XM_011542835.2:c.93T>C, XM_011542835.1:c.93T>C, XM_011542834.3:c.189T>C, XM_011542834.2:c.189T>C, XM_011542834.1:c.189T>C, XM_047426965.1:c.93T>C, XM_047426966.1:c.189T>C

Select item 147509676513.

rs1475096765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102722445 (GRCh38)
11:102593176 (GRCh37)
Canonical SPDI:: NC_000011.10:102722444:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102722445T>C, NC_000011.9:g.102593176T>C, NG_012101.1:g.7510A>G, NM_002424.3:c.331A>G, NM_002424.2:c.331A>G, NM_001304441.2:c.262A>G, NM_001304441.1:c.262A>G, NM_001304442.2:c.262A>G, NM_001304442.1:c.262A>G, XM_011542835.3:c.262A>G, XM_011542835.2:c.262A>G, XM_011542835.1:c.262A>G, XM_011542834.3:c.358A>G, XM_011542834.2:c.358A>G, XM_011542834.1:c.358A>G, XM_047426965.1:c.262A>G, XM_047426966.1:c.358A>G, NP_002415.1:p.Thr111Ala, NP_001291370.1:p.Thr88Ala, NP_001291371.1:p.Thr88Ala, XP_011541137.1:p.Thr88Ala, XP_011541136.1:p.Thr120Ala, XP_047282921.1:p.Thr88Ala, XP_047282922.1:p.Thr120Ala

Select item 147147404014.

rs1471474040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102718572 (GRCh38)
11:102589303 (GRCh37)
Canonical SPDI:: NC_000011.10:102718571:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102718572T>C, NC_000011.9:g.102589303T>C, NG_012101.1:g.11383A>G, NM_002424.3:c.626A>G, NM_002424.2:c.626A>G, NM_001304441.2:c.557A>G, NM_001304441.1:c.557A>G, NM_001304442.2:c.557A>G, NM_001304442.1:c.557A>G, XM_011542835.3:c.557A>G, XM_011542835.2:c.557A>G, XM_011542835.1:c.557A>G, XM_011542834.3:c.653A>G, XM_011542834.2:c.653A>G, XM_011542834.1:c.653A>G, XM_047426965.1:c.557A>G, XM_047426966.1:c.653A>G, NP_002415.1:p.Tyr209Cys, NP_001291370.1:p.Tyr186Cys, NP_001291371.1:p.Tyr186Cys, XP_011541137.1:p.Tyr186Cys, XP_011541136.1:p.Tyr218Cys, XP_047282921.1:p.Tyr186Cys, XP_047282922.1:p.Tyr218Cys

Select item 147146733615.

rs1471467336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102718569 (GRCh38)
11:102589300 (GRCh37)
Canonical SPDI:: NC_000011.10:102718568:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.102718569T>C, NC_000011.9:g.102589300T>C, NG_012101.1:g.11386A>G, NM_002424.3:c.629A>G, NM_002424.2:c.629A>G, NM_001304441.2:c.560A>G, NM_001304441.1:c.560A>G, NM_001304442.2:c.560A>G, NM_001304442.1:c.560A>G, XM_011542835.3:c.560A>G, XM_011542835.2:c.560A>G, XM_011542835.1:c.560A>G, XM_011542834.3:c.656A>G, XM_011542834.2:c.656A>G, XM_011542834.1:c.656A>G, XM_047426965.1:c.560A>G, XM_047426966.1:c.656A>G, NP_002415.1:p.Asn210Ser, NP_001291370.1:p.Asn187Ser, NP_001291371.1:p.Asn187Ser, XP_011541137.1:p.Asn187Ser, XP_011541136.1:p.Asn219Ser, XP_047282921.1:p.Asn187Ser, XP_047282922.1:p.Asn219Ser

Select item 146577462216.

rs1465774622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:102713855 (GRCh38)
11:102584586 (GRCh37)
Canonical SPDI:: NC_000011.10:102713854:T:C
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102713855T>C, NC_000011.9:g.102584586T>C, NG_012101.1:g.16100A>G, NM_002424.3:c.1193A>G, NM_002424.2:c.1193A>G, NM_001304441.2:c.1124A>G, NM_001304441.1:c.1124A>G, NM_001304442.2:c.1124A>G, NM_001304442.1:c.1124A>G, XM_011542835.3:c.1124A>G, XM_011542835.2:c.1124A>G, XM_011542835.1:c.1124A>G, XM_011542834.3:c.1220A>G, XM_011542834.2:c.1220A>G, XM_011542834.1:c.1220A>G, XM_047426965.1:c.1124A>G, XM_047426966.1:c.1066A>G, NP_002415.1:p.Tyr398Cys, NP_001291370.1:p.Tyr375Cys, NP_001291371.1:p.Tyr375Cys, XP_011541137.1:p.Tyr375Cys, XP_011541136.1:p.Tyr407Cys, XP_047282921.1:p.Tyr375Cys, XP_047282922.1:p.Met356Val

Select item 146356946017.

rs1463569460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:102718489 (GRCh38)
11:102589220 (GRCh37)
Canonical SPDI:: NC_000011.10:102718488:G:T
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102718489G>T, NC_000011.9:g.102589220G>T, NG_012101.1:g.11466C>A, NM_002424.3:c.709C>A, NM_002424.2:c.709C>A, NM_001304441.2:c.640C>A, NM_001304441.1:c.640C>A, NM_001304442.2:c.640C>A, NM_001304442.1:c.640C>A, XM_011542835.3:c.640C>A, XM_011542835.2:c.640C>A, XM_011542835.1:c.640C>A, XM_011542834.3:c.736C>A, XM_011542834.2:c.736C>A, XM_011542834.1:c.736C>A, XM_047426965.1:c.640C>A, XM_047426966.1:c.736C>A, NP_002415.1:p.Pro237Thr, NP_001291370.1:p.Pro214Thr, NP_001291371.1:p.Pro214Thr, XP_011541137.1:p.Pro214Thr, XP_011541136.1:p.Pro246Thr, XP_047282921.1:p.Pro214Thr, XP_047282922.1:p.Pro246Thr

Select item 146148390318.

rs1461483903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:102722451 (GRCh38)
11:102593182 (GRCh37)
Canonical SPDI:: NC_000011.10:102722450:C:T
Gene:: MMP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102722451C>T, NC_000011.9:g.102593182C>T, NG_012101.1:g.7504G>A, NM_002424.3:c.325G>A, NM_002424.2:c.325G>A, NM_001304441.2:c.256G>A, NM_001304441.1:c.256G>A, NM_001304442.2:c.256G>A, NM_001304442.1:c.256G>A, XM_011542835.3:c.256G>A, XM_011542835.2:c.256G>A, XM_011542835.1:c.256G>A, XM_011542834.3:c.352G>A, XM_011542834.2:c.352G>A, XM_011542834.1:c.352G>A, XM_047426965.1:c.256G>A, XM_047426966.1:c.352G>A, NP_002415.1:p.Glu109Lys, NP_001291370.1:p.Glu86Lys, NP_001291371.1:p.Glu86Lys, XP_011541137.1:p.Glu86Lys, XP_011541136.1:p.Glu118Lys, XP_047282921.1:p.Glu86Lys, XP_047282922.1:p.Glu118Lys

Select item 145434985919.

rs1454349859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:102716395 (GRCh38)
11:102587126 (GRCh37)
Canonical SPDI:: NC_000011.10:102716394:G:A
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.102716395G>A, NC_000011.9:g.102587126G>A, NG_012101.1:g.13560C>T, NM_002424.3:c.809C>T, NM_002424.2:c.809C>T, NM_001304441.2:c.740C>T, NM_001304441.1:c.740C>T, NM_001304442.2:c.740C>T, NM_001304442.1:c.740C>T, XM_011542835.3:c.740C>T, XM_011542835.2:c.740C>T, XM_011542835.1:c.740C>T, XM_011542834.3:c.836C>T, XM_011542834.2:c.836C>T, XM_011542834.1:c.836C>T, XM_047426965.1:c.740C>T, XM_047426966.1:c.836C>T, NP_002415.1:p.Pro270Leu, NP_001291370.1:p.Pro247Leu, NP_001291371.1:p.Pro247Leu, XP_011541137.1:p.Pro247Leu, XP_011541136.1:p.Pro279Leu, XP_047282921.1:p.Pro247Leu, XP_047282922.1:p.Pro279Leu

Select item 145434237820.

rs1454342378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:102716341 (GRCh38)
11:102587072 (GRCh37)
Canonical SPDI:: NC_000011.10:102716340:A:G
Gene:: MMP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.102716341A>G, NC_000011.9:g.102587072A>G, NG_012101.1:g.13614T>C, NM_002424.3:c.863T>C, NM_002424.2:c.863T>C, NM_001304441.2:c.794T>C, NM_001304441.1:c.794T>C, NM_001304442.2:c.794T>C, NM_001304442.1:c.794T>C, XM_011542835.3:c.794T>C, XM_011542835.2:c.794T>C, XM_011542835.1:c.794T>C, XM_011542834.3:c.890T>C, XM_011542834.2:c.890T>C, XM_011542834.1:c.890T>C, XM_047426965.1:c.794T>C, XM_047426966.1:c.890T>C, NP_002415.1:p.Ile288Thr, NP_001291370.1:p.Ile265Thr, NP_001291371.1:p.Ile265Thr, XP_011541137.1:p.Ile265Thr, XP_011541136.1:p.Ile297Thr, XP_047282921.1:p.Ile265Thr, XP_047282922.1:p.Ile297Thr

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 537

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