SNP Links for Gene (Select 677792) - SNP

Links from Gene

Items: 1 to 20 of 803

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Select item 14906837271.

rs1490683727 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:93731987 (GRCh38)
11:93465154 (GRCh37)
Canonical SPDI:: NC_000011.10:93731987:A:AA
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93731988dup, NC_000011.9:g.93465154dup

Select item 14906247452.

rs1490624745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93733510 (GRCh38)
11:93466676 (GRCh37)
Canonical SPDI:: NC_000011.10:93733509:G:A
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733510G>A, NC_000011.9:g.93466676G>A, NR_002959.1:n.88C>T

Select item 14892536823.

rs1489253682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:93731878 (GRCh38)
11:93465044 (GRCh37)
Canonical SPDI:: NC_000011.10:93731877:G:A
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.93731878G>A, NC_000011.9:g.93465044G>A

Select item 14858797304.

rs1485879730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:93733187 (GRCh38)
11:93466353 (GRCh37)
Canonical SPDI:: NC_000011.10:93733186:G:A,NC_000011.10:93733186:G:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733187G>A, NC_000011.10:g.93733187G>T, NC_000011.9:g.93466353G>A, NC_000011.9:g.93466353G>T

Select item 14853513385.

rs1485351338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93731629 (GRCh38)
11:93464795 (GRCh37)
Canonical SPDI:: NC_000011.10:93731628:C:T
Gene:: TAF1D (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.93731629C>T, NC_000011.9:g.93464795C>T

Select item 14831887536.

rs1483188753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:93731583 (GRCh38)
11:93464749 (GRCh37)
Canonical SPDI:: NC_000011.10:93731582:G:T
Gene:: TAF1D (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.93731583G>T, NC_000011.9:g.93464749G>T

Select item 14817958557.

rs1481795855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:93733875 (GRCh38)
11:93467041 (GRCh37)
Canonical SPDI:: NC_000011.10:93733874:G:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93733875G>C, NC_000011.9:g.93467041G>C

Select item 14817045458.

rs1481704545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93733961 (GRCh38)
11:93467127 (GRCh37)
Canonical SPDI:: NC_000011.10:93733960:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.93733961C>T, NC_000011.9:g.93467127C>T

Select item 14816250629.

rs1481625062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:93733159 (GRCh38)
11:93466325 (GRCh37)
Canonical SPDI:: NC_000011.10:93733158:A:C,NC_000011.10:93733158:A:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733159A>C, NC_000011.10:g.93733159A>G, NC_000011.9:g.93466325A>C, NC_000011.9:g.93466325A>G

Select item 148116961410.

rs1481169614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93732988 (GRCh38)
11:93466154 (GRCh37)
Canonical SPDI:: NC_000011.10:93732987:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORA32 (Varview), SNORD5 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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.93732988C>T, NC_000011.9:g.93466154C>T

Select item 148065925111.

rs1480659251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:93732760 (GRCh38)
11:93465926 (GRCh37)
Canonical SPDI:: NC_000011.10:93732759:T:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA32 (Varview), SNORD5 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.93732760T>C, NC_000011.9:g.93465926T>C

Select item 148021368612.

rs1480213686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:93731570 (GRCh38)
11:93464736 (GRCh37)
Canonical SPDI:: NC_000011.10:93731569:C:T
Gene:: TAF1D (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93731570C>T, NC_000011.9:g.93464736C>T, NR_003036.1:n.4G>A

Select item 147643686513.

rs1476436865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:93733675 (GRCh38)
11:93466841 (GRCh37)
Canonical SPDI:: NC_000011.10:93733674:G:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000021/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93733675G>C, NC_000011.9:g.93466841G>C, NR_031639.1:n.90C>G

Select item 147345058214.

rs1473450582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:93731624 (GRCh38)
11:93464791 (GRCh37)
Canonical SPDI:: NC_000011.10:93731624:A:AA
Gene:: TAF1D (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93731625dup, NC_000011.9:g.93464791dup

Select item 147309578715.

rs1473095787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:93733864 (GRCh38)
11:93467030 (GRCh37)
Canonical SPDI:: NC_000011.10:93733863:A:G
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.93733864A>G, NC_000011.9:g.93467030A>G

Select item 147220863916.

rs1472208639 [Homo sapiens]

Variant type:: DEL
Alleles:: GAC>- [Show Flanks]
Chromosome:: 11:93732740 (GRCh38)
11:93465906 (GRCh37)
Canonical SPDI:: NC_000011.10:93732739:GAC:
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA32 (Varview), SNORD5 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.93732740_93732742del, NC_000011.9:g.93465906_93465908del

Select item 147146674517.

rs1471466745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:93733537 (GRCh38)
11:93466703 (GRCh37)
Canonical SPDI:: NC_000011.10:93733536:T:C
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.93733537T>C, NC_000011.9:g.93466703T>C, NR_002959.1:n.61A>G

Select item 147127843718.

rs1471278437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:93731530 (GRCh38)
11:93464696 (GRCh37)
Canonical SPDI:: NC_000011.10:93731529:G:A,NC_000011.10:93731529:G:C
Gene:: TAF1D (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.93731530G>A, NC_000011.10:g.93731530G>C, NC_000011.9:g.93464696G>A, NC_000011.9:g.93464696G>C, NR_003036.1:n.44C>T, NR_003036.1:n.44C>G

Select item 147110098119.

rs1471100981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:93732351 (GRCh38)
11:93465517 (GRCh37)
Canonical SPDI:: NC_000011.10:93732350:C:A,NC_000011.10:93732350:C:T
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.93732351C>A, NC_000011.10:g.93732351C>T, NC_000011.9:g.93465517C>A, NC_000011.9:g.93465517C>T

Select item 147005789820.

rs1470057898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:93731947 (GRCh38)
11:93465113 (GRCh37)
Canonical SPDI:: NC_000011.10:93731946:T:A
Gene:: TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA25 (Varview), SNORA32 (Varview), SNORD6 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.93731947T>A, NC_000011.9:g.93465113T>A

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