SNP Links for Nucleotide (Select 52546692) - SNP

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Links from Nucleotide

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Select item 14882063111.

rs1488206311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:4923914 (GRCh38)
11:4945144 (GRCh37)
Canonical SPDI:: NC_000011.10:4923913:A:C
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.4923914A>C, NC_000011.9:g.4945144A>C, NM_001005237.1:c.426T>G, NP_001005237.1:p.Cys142Trp

Select item 14863603322.

rs1486360332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:4924128 (GRCh38)
11:4945358 (GRCh37)
Canonical SPDI:: NC_000011.10:4924127:G:C
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4924128G>C, NC_000011.9:g.4945358G>C, NM_001005237.1:c.212C>G, NP_001005237.1:p.Thr71Arg

Select item 14836141643.

rs1483614164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4923905 (GRCh38)
11:4945135 (GRCh37)
Canonical SPDI:: NC_000011.10:4923904:C:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.4923905C>A, NC_000011.9:g.4945135C>A, NM_001005237.1:c.435G>T, NP_001005237.1:p.Lys145Asn

Select item 14834961484.

rs1483496148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4924216 (GRCh38)
11:4945446 (GRCh37)
Canonical SPDI:: NC_000011.10:4924215:A:G
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4924216A>G, NC_000011.9:g.4945446A>G, NM_001005237.1:c.124T>C

Select item 14768397895.

rs1476839789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4923860 (GRCh38)
11:4945090 (GRCh37)
Canonical SPDI:: NC_000011.10:4923859:G:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.4923860G>A, NC_000011.9:g.4945090G>A, NM_001005237.1:c.480C>T

Select item 14763704166.

rs1476370416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:4923989 (GRCh38)
11:4945219 (GRCh37)
Canonical SPDI:: NC_000011.10:4923988:C:G,NC_000011.10:4923988:C:T
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000011.10:g.4923989C>G, NC_000011.10:g.4923989C>T, NC_000011.9:g.4945219C>G, NC_000011.9:g.4945219C>T, NM_001005237.1:c.351G>C, NM_001005237.1:c.351G>A

Select item 14763362117.

rs1476336211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4923755 (GRCh38)
11:4944985 (GRCh37)
Canonical SPDI:: NC_000011.10:4923754:A:G
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4923755A>G, NC_000011.9:g.4944985A>G, NM_001005237.1:c.585T>C

Select item 14747361988.

rs1474736198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:4924286 (GRCh38)
11:4945516 (GRCh37)
Canonical SPDI:: NC_000011.10:4924285:G:C
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4924286G>C, NC_000011.9:g.4945516G>C, NM_001005237.1:c.54C>G

Select item 14716330029.

rs1471633002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4923921 (GRCh38)
11:4945151 (GRCh37)
Canonical SPDI:: NC_000011.10:4923920:G:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.4923921G>A, NC_000011.9:g.4945151G>A, NM_001005237.1:c.419C>T, NP_001005237.1:p.Pro140Leu

Select item 146890320510.

rs1468903205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4923842 (GRCh38)
11:4945072 (GRCh37)
Canonical SPDI:: NC_000011.10:4923841:C:T
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4923842C>T, NC_000011.9:g.4945072C>T, NM_001005237.1:c.498G>A

Select item 146398121411.

rs1463981214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4923610 (GRCh38)
11:4944840 (GRCh37)
Canonical SPDI:: NC_000011.10:4923609:C:T
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4923610C>T, NC_000011.9:g.4944840C>T, NM_001005237.1:c.730G>A, NP_001005237.1:p.Val244Ile

Select item 146307789212.

rs1463077892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4924306 (GRCh38)
11:4945536 (GRCh37)
Canonical SPDI:: NC_000011.10:4924305:C:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4924306C>A, NC_000011.9:g.4945536C>A, NM_001005237.1:c.34G>T, NP_001005237.1:p.Ala12Ser

Select item 146252520413.

rs1462525204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:4923888 (GRCh38)
11:4945118 (GRCh37)
Canonical SPDI:: NC_000011.10:4923887:A:C
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_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.4923888A>C, NC_000011.9:g.4945118A>C, NM_001005237.1:c.452T>G, NP_001005237.1:p.Val151Gly

Select item 145682458214.

rs1456824582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4923589 (GRCh38)
11:4944819 (GRCh37)
Canonical SPDI:: NC_000011.10:4923588:G:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4923589G>A, NC_000011.9:g.4944819G>A, NM_001005237.1:c.751C>T

Select item 145559546715.

rs1455595467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:4923499 (GRCh38)
11:4944729 (GRCh37)
Canonical SPDI:: NC_000011.10:4923498:C:G,NC_000011.10:4923498:C:T
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4923499C>G, NC_000011.10:g.4923499C>T, NC_000011.9:g.4944729C>G, NC_000011.9:g.4944729C>T, NM_001005237.1:c.841G>C, NM_001005237.1:c.841G>A, NP_001005237.1:p.Val281Leu, NP_001005237.1:p.Val281Met

Select item 145469193216.

rs1454691932 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCC [Show Flanks]
Chromosome:: 11:4923734 (GRCh38)
11:4944965 (GRCh37)
Canonical SPDI:: NC_000011.10:4923734:AGCC:AGCCAGCC
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGCCAGCC=0./0 (ALFA)
AGCC=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4923735_4923738dup, NC_000011.9:g.4944965_4944968dup, NM_001005237.1:c.602_605dup, NP_001005237.1:p.Phe203fs

Select item 145382863817.

rs1453828638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4924065 (GRCh38)
11:4945295 (GRCh37)
Canonical SPDI:: NC_000011.10:4924064:C:G
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_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.4924065C>G, NC_000011.9:g.4945295C>G, NM_001005237.1:c.275G>C, NP_001005237.1:p.Arg92Thr

Select item 145082974518.

rs1450829745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4923791 (GRCh38)
11:4945021 (GRCh37)
Canonical SPDI:: NC_000011.10:4923790:G:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.4923791G>A, NC_000011.9:g.4945021G>A, NM_001005237.1:c.549C>T

Select item 144766162019.

rs1447661620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4923953 (GRCh38)
11:4945183 (GRCh37)
Canonical SPDI:: NC_000011.10:4923952:G:A
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000011.10:g.4923953G>A, NC_000011.9:g.4945183G>A, NM_001005237.1:c.387C>T

Select item 143824396720.

rs1438243967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:4924247 (GRCh38)
11:4945477 (GRCh37)
Canonical SPDI:: NC_000011.10:4924246:A:C,NC_000011.10:4924246:A:G
Gene:: MMP26 (Varview), OR51G1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4924247A>C, NC_000011.10:g.4924247A>G, NC_000011.9:g.4945477A>C, NC_000011.9:g.4945477A>G, NM_001005237.1:c.93T>G, NM_001005237.1:c.93T>C, NP_001005237.1:p.Ile31Met

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