Links from Gene
Items: 1 to 20 of 781
1.
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:
2.
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:
3.
rs1485128459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:93734625
(GRCh38)
11:93467791
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734624:C:A
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1482801641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:93734283
(GRCh38)
11:93467449
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734282:T:C,NC_000011.10:93734282:T:G
- Gene:
- TAF1D (Varview), SNORA8 (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)
G=0.000004/1
(TOPMED)
- HGVS:
6.
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:
7.
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:
8.
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:
9.
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:
10.
rs1477511177 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCGAACTCCTGAGGTCAGGAGTTC
[Show Flanks]
- Chromosome:
- 11:93735491
(GRCh38)
11:93468658
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93735491::TCGAACTCCTGAGGTCAGGAGTTC
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), MIR1304 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
TCGAACTCCTGAGGTCAGGAGTTC=0.000014/2
(GnomAD)
- HGVS:
11.
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:
12.
rs1475520196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:93735088
(GRCh38)
11:93468254
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93735087:C:A
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1474610689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93735494
(GRCh38)
11:93468660
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93735493:A:G
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), MIR1304 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
14.
rs1474078733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93734257
(GRCh38)
11:93467423
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734256:A:G
- Gene:
- TAF1D (Varview), SNORA8 (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:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1471487823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:93735069
(GRCh38)
11:93468235
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93735068:T:C,NC_000011.10:93735068:T:G
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000043/1
(
ALFA)
G=0.000005/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
17.
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:
18.
rs1470955710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93734706
(GRCh38)
11:93467872
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734705:A:G
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (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:
19.
rs1468905224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:93734696
(GRCh38)
11:93467862
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734695:A:G
- Gene:
- TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000031/4
(GnomAD_exomes)
- HGVS:
20.
rs1467855166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:93734059
(GRCh38)
11:93467225
(GRCh37)
- Canonical SPDI:
- NC_000011.10:93734058:T:A
- 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:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: