SNP Links for Gene (Select 7097) - SNP

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Select item 14914200611.

rs1491420061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:153682143 (GRCh38)
4:154603296 (GRCh37)
Canonical SPDI:: NC_000004.12:153682143:C:CC
Validated:: by cluster
HGVS:: NC_000004.12:g.153682144dup, NC_000004.11:g.154603296dup, NG_016229.1:g.2856dup

Select item 14913235672.

rs1491323567 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 4:153702761 (GRCh38)
4:154623914 (GRCh37)
Canonical SPDI:: NC_000004.12:153702761::C,NC_000004.12:153702761::G
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00034/4 (ALFA)
HGVS:: NC_000004.12:g.153702761_153702762insC, NC_000004.12:g.153702761_153702762insG, NC_000004.11:g.154623913_154623914insC, NC_000004.11:g.154623913_154623914insG, NG_016229.1:g.23473_23474insC, NG_016229.1:g.23473_23474insG, XM_047416111.1:c.-147_-146insC, XM_047416111.1:c.-147_-146insG

Select item 14911810963.

rs1491181096 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:153701783 (GRCh38)
4:154622935 (GRCh37)
Canonical SPDI:: NC_000004.12:153701780:AGAG:AG
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.153701781AG[1], NC_000004.11:g.154622933AG[1], NG_016229.1:g.22493AG[1]

Select item 14911601284.

rs1491160128 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 4:153702762 (GRCh38)
4:154623914 (GRCh37)
Canonical SPDI:: NC_000004.12:153702760:TTT:T,NC_000004.12:153702760:TTT:TTTTT
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.153702762_153702763del, NC_000004.12:g.153702762_153702763dup, NC_000004.11:g.154623914_154623915del, NC_000004.11:g.154623914_154623915dup, NG_016229.1:g.23474_23475del, NG_016229.1:g.23474_23475dup, XM_047416111.1:c.-146_-145del, XM_047416111.1:c.-146_-145dup

Select item 14911408145.

rs1491140814 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:153682138 (GRCh38)
4:154603290 (GRCh37)
Canonical SPDI:: NC_000004.12:153682137:AT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.153682138_153682139del, NC_000004.11:g.154603290_154603291del, NG_016229.1:g.2850_2851del

Select item 14910788836.

rs1491078883 has merged into rs55699629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:153696872 (GRCh38)
4:154618024 (GRCh37)
Canonical SPDI:: NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAA,NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:153696863:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.1065/503 (1000Genomes)
HGVS:: NC_000004.12:g.153696872_153696874del, NC_000004.12:g.153696873_153696874del, NC_000004.12:g.153696874del, NC_000004.12:g.153696874dup, NC_000004.12:g.153696873_153696874dup, NC_000004.12:g.153696870_153696874dup, NC_000004.11:g.154618024_154618026del, NC_000004.11:g.154618025_154618026del, NC_000004.11:g.154618026del, NC_000004.11:g.154618026dup, NC_000004.11:g.154618025_154618026dup, NC_000004.11:g.154618022_154618026dup, NG_016229.1:g.17584_17586del, NG_016229.1:g.17585_17586del, NG_016229.1:g.17586del, NG_016229.1:g.17586dup, NG_016229.1:g.17585_17586dup, NG_016229.1:g.17582_17586dup

Select item 14907931077.

rs1490793107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:153686755 (GRCh38)
4:154607907 (GRCh37)
Canonical SPDI:: NC_000004.12:153686754:A:T
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.153686755A>T, NC_000004.11:g.154607907A>T, NG_016229.1:g.7467A>T, XM_047416113.1:c.-1250A>T

Select item 14906757588.

rs1490675758 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:153685436 (GRCh38)
4:154606588 (GRCh37)
Canonical SPDI:: NC_000004.12:153685435:G:
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000004.12:g.153685436del, NC_000004.11:g.154606588del, NG_016229.1:g.6148del, XM_047416113.1:c.-2569del

Select item 14903022339.

rs1490302233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:153687235 (GRCh38)
4:154608387 (GRCh37)
Canonical SPDI:: NC_000004.12:153687234:A:G,NC_000004.12:153687234:A:T
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.153687235A>G, NC_000004.12:g.153687235A>T, NC_000004.11:g.154608387A>G, NC_000004.11:g.154608387A>T, NG_016229.1:g.7947A>G, NG_016229.1:g.7947A>T, XM_047416113.1:c.-770A>G, XM_047416113.1:c.-770A>T

Select item 149027727710.

rs1490277277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:153688349 (GRCh38)
4:154609501 (GRCh37)
Canonical SPDI:: NC_000004.12:153688348:A:G
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.153688349A>G, NC_000004.11:g.154609501A>G, NG_016229.1:g.9061A>G

Select item 148993691411.

rs1489936914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:153695661 (GRCh38)
4:154616813 (GRCh37)
Canonical SPDI:: NC_000004.12:153695660:T:C
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.153695661T>C, NC_000004.11:g.154616813T>C, NG_016229.1:g.16373T>C

Select item 148981120012.

rs1489811200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:153687731 (GRCh38)
4:154608883 (GRCh37)
Canonical SPDI:: NC_000004.12:153687730:G:C
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000004.12:g.153687731G>C, NC_000004.11:g.154608883G>C, NG_016229.1:g.8443G>C, XM_047416113.1:c.-274G>C

Select item 148966016313.

rs1489660163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:153702410 (GRCh38)
4:154623562 (GRCh37)
Canonical SPDI:: NC_000004.12:153702409:A:G
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.153702410A>G, NC_000004.11:g.154623562A>G, NG_016229.1:g.23122A>G, NM_001318787.2:c.-117A>G, NM_001318787.1:c.-117A>G, XM_017008573.2:c.-117A>G, XM_017008573.1:c.-117A>G, XM_047416111.1:c.-498A>G

Select item 148934508214.

rs1489345082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:153686674 (GRCh38)
4:154607826 (GRCh37)
Canonical SPDI:: NC_000004.12:153686673:T:C
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.153686674T>C, NC_000004.11:g.154607826T>C, NG_016229.1:g.7386T>C, XM_047416113.1:c.-1331T>C

Select item 148914748915.

rs1489147489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:153704879 (GRCh38)
4:154626031 (GRCh37)
Canonical SPDI:: NC_000004.12:153704878:C:G
Gene:: TLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.153704879C>G, NC_000004.11:g.154626031C>G, NG_016229.1:g.25591C>G, NM_003264.5:c.1972C>G, NM_003264.4:c.1972C>G, NM_003264.3:c.1972C>G, NM_001318787.2:c.1972C>G, NM_001318787.1:c.1972C>G, NM_001318789.2:c.1972C>G, NM_001318789.1:c.1972C>G, NM_001318790.2:c.1972C>G, NM_001318790.1:c.1972C>G, NM_001318791.2:c.1972C>G, NM_001318791.1:c.1972C>G, NM_001318793.2:c.1972C>G, NM_001318793.1:c.1972C>G, NM_001318795.2:c.1972C>G, NM_001318795.1:c.1972C>G, NM_001318796.2:c.1972C>G, NM_001318796.1:c.1972C>G, XM_011532215.3:c.1972C>G, XM_011532215.2:c.1972C>G, XM_011532215.1:c.1972C>G, XM_011532216.3:c.1972C>G, XM_011532216.2:c.1972C>G, XM_011532216.1:c.1972C>G, XM_017008573.2:c.1972C>G, XM_017008573.1:c.1972C>G, XM_017008575.2:c.1972C>G, XM_017008575.1:c.1972C>G, XM_047416111.1:c.1972C>G, XM_047416113.1:c.1972C>G, XM_047416112.1:c.1972C>G, XM_047416114.1:c.1972C>G, NP_003255.2:p.Leu658Val, NP_001305716.1:p.Leu658Val, NP_001305718.1:p.Leu658Val, NP_001305719.1:p.Leu658Val, NP_001305720.1:p.Leu658Val, NP_001305722.1:p.Leu658Val, NP_001305724.1:p.Leu658Val, NP_001305725.1:p.Leu658Val, XP_011530517.1:p.Leu658Val, XP_011530518.1:p.Leu658Val, XP_016864062.1:p.Leu658Val, XP_016864064.1:p.Leu658Val, XP_047272067.1:p.Leu658Val, XP_047272069.1:p.Leu658Val, XP_047272068.1:p.Leu658Val, XP_047272070.1:p.Leu658Val

Select item 148907060216.

rs1489070602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:153697412 (GRCh38)
4:154618564 (GRCh37)
Canonical SPDI:: NC_000004.12:153697411:G:C
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.153697412G>C, NC_000004.11:g.154618564G>C, NG_016229.1:g.18124G>C

Select item 148904861617.

rs1489048616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:153697445 (GRCh38)
4:154618597 (GRCh37)
Canonical SPDI:: NC_000004.12:153697444:G:C
Gene:: TLR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.153697445G>C, NC_000004.11:g.154618597G>C, NG_016229.1:g.18157G>C

Select item 148885857118.

rs1488858571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:153705059 (GRCh38)
4:154626211 (GRCh37)
Canonical SPDI:: NC_000004.12:153705058:G:C
Gene:: TLR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.153705059G>C, NC_000004.11:g.154626211G>C, NG_016229.1:g.25771G>C, NM_003264.5:c.2152G>C, NM_003264.4:c.2152G>C, NM_003264.3:c.2152G>C, NM_001318787.2:c.2152G>C, NM_001318787.1:c.2152G>C, NM_001318789.2:c.2152G>C, NM_001318789.1:c.2152G>C, NM_001318790.2:c.2152G>C, NM_001318790.1:c.2152G>C, NM_001318791.2:c.2152G>C, NM_001318791.1:c.2152G>C, NM_001318793.2:c.2152G>C, NM_001318793.1:c.2152G>C, NM_001318795.2:c.2152G>C, NM_001318795.1:c.2152G>C, NM_001318796.2:c.2152G>C, NM_001318796.1:c.2152G>C, XM_011532215.3:c.2152G>C, XM_011532215.2:c.2152G>C, XM_011532215.1:c.2152G>C, XM_011532216.3:c.2152G>C, XM_011532216.2:c.2152G>C, XM_011532216.1:c.2152G>C, XM_017008573.2:c.2152G>C, XM_017008573.1:c.2152G>C, XM_017008575.2:c.2152G>C, XM_017008575.1:c.2152G>C, XM_047416111.1:c.2152G>C, XM_047416113.1:c.2152G>C, XM_047416112.1:c.2152G>C, XM_047416114.1:c.2152G>C, NP_003255.2:p.Asp718His, NP_001305716.1:p.Asp718His, NP_001305718.1:p.Asp718His, NP_001305719.1:p.Asp718His, NP_001305720.1:p.Asp718His, NP_001305722.1:p.Asp718His, NP_001305724.1:p.Asp718His, NP_001305725.1:p.Asp718His, XP_011530517.1:p.Asp718His, XP_011530518.1:p.Asp718His, XP_016864062.1:p.Asp718His, XP_016864064.1:p.Asp718His, XP_047272067.1:p.Asp718His, XP_047272069.1:p.Asp718His, XP_047272068.1:p.Asp718His, XP_047272070.1:p.Asp718His

Select item 148883358119.

rs1488833581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:153689935 (GRCh38)
4:154611087 (GRCh37)
Canonical SPDI:: NC_000004.12:153689934:G:T
Gene:: TLR2 (Varview)
Functional Consequence:: 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_000004.12:g.153689935G>T, NC_000004.11:g.154611087G>T, NG_016229.1:g.10647G>T

Select item 148883285120.

rs1488832851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:153705828 (GRCh38)
4:154626980 (GRCh37)
Canonical SPDI:: NC_000004.12:153705827:C:A
Gene:: TLR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.153705828C>A, NC_000004.11:g.154626980C>A, NG_016229.1:g.26540C>A, NM_003264.5:c.*566C>A, NM_003264.4:c.*566C>A, NM_003264.3:c.*566C>A, NM_001318787.2:c.*566C>A, NM_001318787.1:c.*566C>A, NM_001318789.2:c.*566C>A, NM_001318789.1:c.*566C>A, NM_001318790.2:c.*566C>A, NM_001318790.1:c.*566C>A, NM_001318791.2:c.*566C>A, NM_001318791.1:c.*566C>A, NM_001318793.2:c.*566C>A, NM_001318793.1:c.*566C>A, NM_001318795.2:c.*566C>A, NM_001318795.1:c.*566C>A, NM_001318796.2:c.*566C>A, NM_001318796.1:c.*566C>A, XM_011532215.3:c.*566C>A, XM_011532215.2:c.*566C>A, XM_011532216.3:c.*566C>A, XM_011532216.2:c.*566C>A, XM_017008573.2:c.*566C>A, XM_017008573.1:c.*566C>A, XM_017008575.2:c.*566C>A, XM_017008575.1:c.*566C>A, XM_047416111.1:c.*566C>A, XM_047416113.1:c.*566C>A, XM_047416112.1:c.*566C>A, XM_047416114.1:c.*566C>A

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