Links from Gene
Items: 1 to 20 of 812
1.
rs1491418201 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGT>-,TTGTTTGT
[Show Flanks]
- Chromosome:
- 11:93730018
(GRCh38)
11:93463184
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730014:TGTTTGT:TGT,NC_000011.10:93730014:TGTTTGT:TGTTTGTTTGT
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTTTGTTTGT=0./0
(
ALFA)
TGTT=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
TGTT=0.000024/3
(GnomAD_exomes)
- HGVS:
2.
rs1491279084 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 11:93730016
(GRCh38)
11:93463182
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730013:GTGT:GT
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGT=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000016/2
(GnomAD_exomes)
- HGVS:
3.
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:
4.
rs1489971823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:93731374
(GRCh38)
11:93464540
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93731373:G:A
- Gene:
- TAF1D (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=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
5.
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:
6.
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:
8.
rs1480866202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:93730283
(GRCh38)
11:93463449
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730282:G:A
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.93730283G>A, NC_000011.9:g.93463449G>A, XM_005274367.3:c.*14G>A, XM_005274367.2:c.*14G>A, XM_005274367.1:c.*14G>A, XM_005274368.3:c.*14G>A, XM_005274368.2:c.*14G>A, XM_005274368.1:c.*14G>A, XM_017018474.3:c.*6G>A, XM_017018474.2:c.*6G>A, XM_017018474.1:c.*6G>A, XM_011543053.3:c.*6G>A, XM_011543053.2:c.*6G>A, XM_011543053.1:c.*6G>A, XM_011543047.2:c.*6G>A, XM_011543047.1:c.*6G>A, XM_017018470.2:c.*6G>A, XM_017018470.1:c.*6G>A, XM_011543048.2:c.*6G>A, XM_011543048.1:c.*6G>A, XM_005274366.2:c.*14G>A, XM_005274366.1:c.*14G>A, NM_033395.2:c.*14G>A, NM_033395.1:c.*14G>A, XM_011543049.2:c.*6G>A, XM_011543049.1:c.*6G>A, XM_017018471.2:c.*6G>A, XM_017018471.1:c.*6G>A, XM_017018472.2:c.*14G>A, XM_017018472.1:c.*14G>A, NR_146090.2:n.1648C>T, NR_146090.1:n.1690C>T, NR_146091.2:n.1540C>T, NR_146091.1:n.1582C>T, XM_047427788.1:c.*6G>A, XM_047427789.1:c.*6G>A, XM_047427790.1:c.*6G>A, XM_047427791.1:c.*14G>A, XM_047427792.1:c.*14G>A, XM_047427794.1:c.*6G>A, XM_047427795.1:c.*6G>A
9.
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:
10.
rs1479579772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:93730963
(GRCh38)
11:93464129
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730962:T:G
- Gene:
- TAF1D (Varview), SNORA25 (Varview), SNORA32 (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=0.000009/2
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1478310953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:93730971
(GRCh38)
11:93464137
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730970:A:T
- Gene:
- TAF1D (Varview), SNORA25 (Varview), SNORA32 (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=0.000005/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1477578281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTCT>-
[Show Flanks]
- Chromosome:
- 11:93730659
(GRCh38)
11:93463825
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730655:TCTTTTCT:TCT
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview), SNORA32 (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:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1474568939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:93730346
(GRCh38)
11:93463512
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730345:G:A
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
NC_000011.10:g.93730346G>A, NC_000011.9:g.93463512G>A, XM_005274367.3:c.*77G>A, XM_005274367.2:c.*77G>A, XM_005274367.1:c.*77G>A, XM_005274368.3:c.*77G>A, XM_005274368.2:c.*77G>A, XM_005274368.1:c.*77G>A, XM_017018474.3:c.*69G>A, XM_017018474.2:c.*69G>A, XM_017018474.1:c.*69G>A, XM_011543053.3:c.*69G>A, XM_011543053.2:c.*69G>A, XM_011543053.1:c.*69G>A, XM_011543047.2:c.*69G>A, XM_011543047.1:c.*69G>A, XM_017018470.2:c.*69G>A, XM_017018470.1:c.*69G>A, XM_011543048.2:c.*69G>A, XM_011543048.1:c.*69G>A, XM_005274366.2:c.*77G>A, XM_005274366.1:c.*77G>A, NM_033395.2:c.*77G>A, NM_033395.1:c.*77G>A, XM_011543049.2:c.*69G>A, XM_011543049.1:c.*69G>A, XM_017018471.2:c.*69G>A, XM_017018471.1:c.*69G>A, XM_017018472.2:c.*77G>A, XM_017018472.1:c.*77G>A, NR_146090.2:n.1585C>T, NR_146090.1:n.1627C>T, NR_146091.2:n.1477C>T, NR_146091.1:n.1519C>T, XM_047427788.1:c.*69G>A, XM_047427789.1:c.*69G>A, XM_047427790.1:c.*69G>A, XM_047427791.1:c.*77G>A, XM_047427792.1:c.*77G>A, XM_047427794.1:c.*69G>A, XM_047427795.1:c.*69G>A
15.
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:
16.
rs1473343894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:93730766
(GRCh38)
11:93463932
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730765:G:C
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview), SNORA32 (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=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
17.
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:
18.
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:
- HGVS:
19.
rs1470643201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93730197
(GRCh38)
11:93463363
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730196:A:G
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000006/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.93730197A>G, NC_000011.9:g.93463363A>G, XM_017018474.3:c.7159A>G, XM_017018474.2:c.7159A>G, XM_017018474.1:c.7159A>G, XM_011543053.3:c.6322A>G, XM_011543053.2:c.6322A>G, XM_011543053.1:c.6322A>G, XM_011543047.2:c.7858A>G, XM_011543047.1:c.7858A>G, XM_017018470.2:c.7855A>G, XM_017018470.1:c.7855A>G, XM_011543048.2:c.7819A>G, XM_011543048.1:c.7819A>G, XM_011543049.2:c.7714A>G, XM_011543049.1:c.7714A>G, XM_017018471.2:c.7711A>G, XM_017018471.1:c.7711A>G, NR_146090.2:n.1734T>C, NR_146090.1:n.1776T>C, NR_146091.2:n.1626T>C, NR_146091.1:n.1668T>C, XM_047427788.1:c.7816A>G, XM_047427789.1:c.7675A>G, XM_047427790.1:c.7672A>G, XM_047427794.1:c.7159A>G, XM_047427795.1:c.6322A>G, XP_016873963.1:p.Thr2387Ala, XP_011541355.1:p.Thr2108Ala, XP_011541349.1:p.Thr2620Ala, XP_016873959.1:p.Thr2619Ala, XP_011541350.1:p.Thr2607Ala, XP_011541351.1:p.Thr2572Ala, XP_016873960.1:p.Thr2571Ala, XP_047283744.1:p.Thr2606Ala, XP_047283745.1:p.Thr2559Ala, XP_047283746.1:p.Thr2558Ala, XP_047283750.1:p.Thr2387Ala, XP_047283751.1:p.Thr2108Ala
20.
rs1470263682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93730673
(GRCh38)
11:93463839
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93730672:A:G
- Gene:
- TAF1D (Varview), CEP295 (Varview), SNORA25 (Varview), SNORA32 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: