SNP Links for Gene (Select 9398) - SNP

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Select item 14915705641.

rs1491570564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:117029274 (GRCh38)
1:117571896 (GRCh37)
Canonical SPDI:: NC_000001.11:117029271:AGAG:AG
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.001939/23 (ALFA)
-=0.000464/61 (GnomAD)
HGVS:: NC_000001.11:g.117029272AG[1], NC_000001.10:g.117571894AG[1]

Select item 14915494992.

rs1491549499 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:117029129 (GRCh38)
1:117571751 (GRCh37)
Canonical SPDI:: NC_000001.11:117029128:CA:
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.117029129_117029130del, NC_000001.10:g.117571751_117571752del

Select item 14915312213.

rs1491531221 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:116997308 (GRCh38)
1:117539930 (GRCh37)
Canonical SPDI:: NC_000001.11:116997307:CT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000001.11:g.116997308_116997309del, NC_000001.10:g.117539930_117539931del

Select item 14915265844.

rs1491526584 has merged into rs1553188557 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 1:117030415 (GRCh38)
1:117573037 (GRCh37)
Canonical SPDI:: NC_000001.11:117030405:AGAGAGAGAGAGAGA:AGAGAGAGA,NC_000001.11:117030405:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000001.11:117030405:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000001.11:117030405:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000001.11:117030405:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.117030407GA[4], NC_000001.11:g.117030407GA[5], NC_000001.11:g.117030407GA[6], NC_000001.11:g.117030407GA[8], NC_000001.11:g.117030407GA[9], NC_000001.10:g.117573029GA[4], NC_000001.10:g.117573029GA[5], NC_000001.10:g.117573029GA[6], NC_000001.10:g.117573029GA[8], NC_000001.10:g.117573029GA[9]

Select item 14914488165.

rs1491448816 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTACCAT,TTTTTACCATGTTTAGTAGAGAC [Show Flanks]
Chromosome:: 1:117023607 (GRCh38)
1:117566230 (GRCh37)
Canonical SPDI:: NC_000001.11:117023607::TTTTTACCAT,NC_000001.11:117023607::TTTTTACCATGTTTAGTAGAGAC
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTACCATGTTTAGTAGAGAC=0./0 (ALFA)
TTTTTACCAT=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.117023607_117023608insTTTTTACCAT, NC_000001.11:g.117023607_117023608insTTTTTACCATGTTTAGTAGAGAC, NC_000001.10:g.117566229_117566230insTTTTTACCAT, NC_000001.10:g.117566229_117566230insTTTTTACCATGTTTAGTAGAGAC

Select item 14913986936.

rs1491398693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:117029272 (GRCh38)
1:117571895 (GRCh37)
Canonical SPDI:: NC_000001.11:117029272:G:GG
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.117029273dup, NC_000001.10:g.117571895dup

Select item 14913719827.

rs1491371982 has merged into rs1450712845 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 1:117023608 (GRCh38)
1:117566230 (GRCh37)
Canonical SPDI:: NC_000001.11:117023606:GGG:G,NC_000001.11:117023606:GGG:GG
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.117023608_117023609del, NC_000001.11:g.117023609del, NC_000001.10:g.117566230_117566231del, NC_000001.10:g.117566231del

Select item 14913533208.

rs1491353320 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:117029225 (GRCh38)
1:117571848 (GRCh37)
Canonical SPDI:: NC_000001.11:117029225::GA
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GA=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.117029225_117029226insGA, NC_000001.10:g.117571847_117571848insGA

Select item 14913493269.

rs1491349326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:117016202 (GRCh38)
1:117558824 (GRCh37)
Canonical SPDI:: NC_000001.11:117016200:TTT:T
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117016202_117016203del, NC_000001.10:g.117558824_117558825del

Select item 149131141910.

rs1491311419 has merged into rs1277611386 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAAGAAAGAAAGAAA>-,GAAAGAAA,GAAAGAAAGAAA,GAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA [Show Flanks]
Chromosome:: 1:117029187 (GRCh38)
1:117571809 (GRCh37)
Canonical SPDI:: NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000001.11:117029129:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.117029131GAAA[14], NC_000001.11:g.117029131GAAA[16], NC_000001.11:g.117029131GAAA[17], NC_000001.11:g.117029131GAAA[18], NC_000001.11:g.117029131GAAA[20], NC_000001.11:g.117029131GAAA[22], NC_000001.11:g.117029131GAAA[23], NC_000001.11:g.117029131GAAA[24], NC_000001.11:g.117029131GAAA[25], NC_000001.10:g.117571753GAAA[14], NC_000001.10:g.117571753GAAA[16], NC_000001.10:g.117571753GAAA[17], NC_000001.10:g.117571753GAAA[18], NC_000001.10:g.117571753GAAA[20], NC_000001.10:g.117571753GAAA[22], NC_000001.10:g.117571753GAAA[23], NC_000001.10:g.117571753GAAA[24], NC_000001.10:g.117571753GAAA[25]

Select item 149121827511.

rs1491218275 has merged into rs60429459 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:117029206 (GRCh38)
1:117571828 (GRCh37)
Canonical SPDI:: NC_000001.11:117029203:AAAA:AA,NC_000001.11:117029203:AAAA:AAA,NC_000001.11:117029203:AAAA:AAAAA
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.00337/2 (NorthernSweden)
-=0.03074/114 (TWINSUK)
HGVS:: NC_000001.11:g.117029206_117029207del, NC_000001.11:g.117029207del, NC_000001.11:g.117029207dup, NC_000001.10:g.117571828_117571829del, NC_000001.10:g.117571829del, NC_000001.10:g.117571829dup

Select item 149096955412.

rs1490969554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116990062 (GRCh38)
1:117532684 (GRCh37)
Canonical SPDI:: NC_000001.11:116990061:A:G
Gene:: PTGFRN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116990062A>G, NC_000001.10:g.117532684A>G, NG_082164.1:g.82A>G, NM_020440.4:c.*3095A>G, NM_020440.3:c.*3095A>G, NM_020440.2:c.*3095A>G, XM_017001874.2:c.*3095A>G, XM_017001874.1:c.*3095A>G

Select item 149079676413.

rs1490796764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:117014637 (GRCh38)
1:117557259 (GRCh37)
Canonical SPDI:: NC_000001.11:117014636:G:T
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.117014637G>T, NC_000001.10:g.117557259G>T

Select item 149077129414.

rs1490771294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:117015936 (GRCh38)
1:117558558 (GRCh37)
Canonical SPDI:: NC_000001.11:117015935:A:G
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.117015936A>G, NC_000001.10:g.117558558A>G

Select item 149072870515.

rs1490728705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:117012363 (GRCh38)
1:117554985 (GRCh37)
Canonical SPDI:: NC_000001.11:117012362:G:A,NC_000001.11:117012362:G:T
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.117012363G>A, NC_000001.11:g.117012363G>T, NC_000001.10:g.117554985G>A, NC_000001.10:g.117554985G>T

Select item 149071232516.

rs1490712325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:117014843 (GRCh38)
1:117557465 (GRCh37)
Canonical SPDI:: NC_000001.11:117014842:C:T
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117014843C>T, NC_000001.10:g.117557465C>T

Select item 149070228617.

rs1490702286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:116997956 (GRCh38)
1:117540578 (GRCh37)
Canonical SPDI:: NC_000001.11:116997955:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116997956G>T, NC_000001.10:g.117540578G>T

Select item 149057471718.

rs1490574717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:117011239 (GRCh38)
1:117553861 (GRCh37)
Canonical SPDI:: NC_000001.11:117011238:C:G,NC_000001.11:117011238:C:T
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.117011239C>G, NC_000001.11:g.117011239C>T, NC_000001.10:g.117553861C>G, NC_000001.10:g.117553861C>T

Select item 149045398019.

rs1490453980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:117031942 (GRCh38)
1:117574564 (GRCh37)
Canonical SPDI:: NC_000001.11:117031941:C:T
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117031942C>T, NC_000001.10:g.117574564C>T

Select item 149044683820.

rs1490446838 has merged into rs201470589 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: 1:117030474 (GRCh38)
1:117573096 (GRCh37)
Canonical SPDI:: NC_000001.11:117030468:AGAGAGAGAGA:AGAGA,NC_000001.11:117030468:AGAGAGAGAGA:AGAGAGA,NC_000001.11:117030468:AGAGAGAGAGA:AGAGAGAGA,NC_000001.11:117030468:AGAGAGAGAGA:AGAGAGAGAGAGA
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00096/16 (TOMMO)
-=0.00659/33 (1000Genomes)
-=0.01333/8 (NorthernSweden)
-=0.01603/16 (GoNL)
HGVS:: NC_000001.11:g.117030470GA[2], NC_000001.11:g.117030470GA[3], NC_000001.11:g.117030470GA[4], NC_000001.11:g.117030470GA[6], NC_000001.10:g.117573092GA[2], NC_000001.10:g.117573092GA[3], NC_000001.10:g.117573092GA[4], NC_000001.10:g.117573092GA[6]

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