SNP Links for Gene (Select 81282) - SNP

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Select item 14914562271.

rs1491456227 has merged into rs11318208 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 11:4914551 (GRCh38)
11:4935781 (GRCh37)
Canonical SPDI:: NC_000011.10:4914544:CCCCCCCC:CCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCCCCC
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.1/501 (1000Genomes)
-=0.377/1600 (Estonian)
HGVS:: NC_000011.10:g.4914551_4914552del, NC_000011.10:g.4914552del, NC_000011.10:g.4914552dup, NC_000011.10:g.4914551_4914552dup, NC_000011.9:g.4935781_4935782del, NC_000011.9:g.4935782del, NC_000011.9:g.4935782dup, NC_000011.9:g.4935781_4935782dup, NM_001005238.2:c.*173_*174del, NM_001005238.2:c.*174del, NM_001005238.2:c.*174dup, NM_001005238.2:c.*173_*174dup

Select item 14913297152.

rs1491329715 has merged into rs11318208 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 11:4914551 (GRCh38)
11:4935781 (GRCh37)
Canonical SPDI:: NC_000011.10:4914544:CCCCCCCC:CCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCCCC,NC_000011.10:4914544:CCCCCCCC:CCCCCCCCCC
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
C=0.1/501 (1000Genomes)
-=0.377/1600 (Estonian)
HGVS:: NC_000011.10:g.4914551_4914552del, NC_000011.10:g.4914552del, NC_000011.10:g.4914552dup, NC_000011.10:g.4914551_4914552dup, NC_000011.9:g.4935781_4935782del, NC_000011.9:g.4935782del, NC_000011.9:g.4935782dup, NC_000011.9:g.4935781_4935782dup, NM_001005238.2:c.*173_*174del, NM_001005238.2:c.*174del, NM_001005238.2:c.*174dup, NM_001005238.2:c.*173_*174dup

Select item 14906972623.

rs1490697262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4916192 (GRCh38)
11:4937422 (GRCh37)
Canonical SPDI:: NC_000011.10:4916191:C:A
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4916192C>A, NC_000011.9:g.4937422C>A

Select item 14906176374.

rs1490617637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4915349 (GRCh38)
11:4936579 (GRCh37)
Canonical SPDI:: NC_000011.10:4915348:C:A
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4915349C>A, NC_000011.9:g.4936579C>A, NM_001005238.2:c.315G>T, NM_001005238.1:c.315G>T, NP_001005238.1:p.Gln105His

Select item 14902313795.

rs1490231379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:4914889 (GRCh38)
11:4936119 (GRCh37)
Canonical SPDI:: NC_000011.10:4914888:G:T
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4914889G>T, NC_000011.9:g.4936119G>T, NM_001005238.2:c.775C>A, NM_001005238.1:c.775C>A, NP_001005238.1:p.Pro259Thr

Select item 14902171166.

rs1490217116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4915866 (GRCh38)
11:4937096 (GRCh37)
Canonical SPDI:: NC_000011.10:4915865:T:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.4915866T>C, NC_000011.9:g.4937096T>C

Select item 14900816147.

rs1490081614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:4914710 (GRCh38)
11:4935940 (GRCh37)
Canonical SPDI:: NC_000011.10:4914709:T:G
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4914710T>G, NC_000011.9:g.4935940T>G, NM_001005238.2:c.*9A>C

Select item 14896849138.

rs1489684913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4914505 (GRCh38)
11:4935735 (GRCh37)
Canonical SPDI:: NC_000011.10:4914504:T:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4914505T>C, NC_000011.9:g.4935735T>C, NM_001005238.2:c.*214A>G

Select item 14880859359.

rs1488085935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:4915523 (GRCh38)
11:4936753 (GRCh37)
Canonical SPDI:: NC_000011.10:4915522:G:T
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4915523G>T, NC_000011.9:g.4936753G>T, NM_001005238.2:c.141C>A, NM_001005238.1:c.141C>A, NP_001005238.1:p.Asn47Lys

Select item 148648760710.

rs1486487607 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:4917394 (GRCh38)
11:4938624 (GRCh37)
Canonical SPDI:: NC_000011.10:4917393:C:
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4917394del, NC_000011.9:g.4938624del

Select item 148611620311.

rs1486116203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:4914379 (GRCh38)
11:4935609 (GRCh37)
Canonical SPDI:: NC_000011.10:4914378:A:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4914379A>C, NC_000011.9:g.4935609A>C, NM_001005238.2:c.*340T>G

Select item 148604976512.

rs1486049765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4914425 (GRCh38)
11:4935655 (GRCh37)
Canonical SPDI:: NC_000011.10:4914424:G:A
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000264/4 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000011.10:g.4914425G>A, NC_000011.9:g.4935655G>A, NM_001005238.2:c.*294C>T

Select item 148374229813.

rs1483742298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:4917423 (GRCh38)
11:4938653 (GRCh37)
Canonical SPDI:: NC_000011.10:4917422:A:T
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.4917423A>T, NC_000011.9:g.4938653A>T

Select item 148359025214.

rs1483590252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:4915467 (GRCh38)
11:4936697 (GRCh37)
Canonical SPDI:: NC_000011.10:4915466:A:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4915467A>C, NC_000011.9:g.4936697A>C, NM_001005238.2:c.197T>G, NM_001005238.1:c.197T>G, NP_001005238.1:p.Leu66Arg

Select item 148020111815.

rs1480201118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:4915924 (GRCh38)
11:4937154 (GRCh37)
Canonical SPDI:: NC_000011.10:4915923:G:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4915924G>C, NC_000011.9:g.4937154G>C

Select item 147945565916.

rs1479455659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4914755 (GRCh38)
11:4935985 (GRCh37)
Canonical SPDI:: NC_000011.10:4914754:C:T
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.4914755C>T, NC_000011.9:g.4935985C>T, NM_001005238.2:c.909G>A, NM_001005238.1:c.909G>A

Select item 147894912617.

rs1478949126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4917622 (GRCh38)
11:4938852 (GRCh37)
Canonical SPDI:: NC_000011.10:4917621:T:C
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.4917622T>C, NC_000011.9:g.4938852T>C

Select item 147829699318.

rs1478296993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4915590 (GRCh38)
11:4936820 (GRCh37)
Canonical SPDI:: NC_000011.10:4915589:A:G
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4915590A>G, NC_000011.9:g.4936820A>G, NM_001005238.2:c.74T>C, NM_001005238.1:c.74T>C, NP_001005238.1:p.Leu25Pro

Select item 147762600019.

rs1477626000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:4915474 (GRCh38)
11:4936704 (GRCh37)
Canonical SPDI:: NC_000011.10:4915473:T:C,NC_000011.10:4915473:T:G
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.4915474T>C, NC_000011.10:g.4915474T>G, NC_000011.9:g.4936704T>C, NC_000011.9:g.4936704T>G, NM_001005238.2:c.190A>G, NM_001005238.2:c.190A>C, NM_001005238.1:c.190A>G, NM_001005238.1:c.190A>C, NP_001005238.1:p.Met64Val, NP_001005238.1:p.Met64Leu

Select item 147660788720.

rs1476607887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:4916431 (GRCh38)
11:4937661 (GRCh37)
Canonical SPDI:: NC_000011.10:4916430:C:G,NC_000011.10:4916430:C:T
Gene:: MMP26 (Varview), OR51G2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.4916431C>G, NC_000011.10:g.4916431C>T, NC_000011.9:g.4937661C>G, NC_000011.9:g.4937661C>T

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