Links from Gene
Items: 1 to 20 of 1000
1.
rs1490702460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:94115761
(GRCh38)
14:94582107
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94115760:C:T
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490541174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:94111736
(GRCh38)
14:94578082
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94111735:C:T
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000035/1
(TOMMO)
- HGVS:
NC_000014.9:g.94111736C>T, NT_187601.1:g.1226298C>T, NC_000014.8:g.94578082C>T, NM_005532.5:c.54C>T, NM_005532.4:c.54C>T, NM_005532.3:c.54C>T, NM_001130080.3:c.54C>T, NM_001130080.2:c.54C>T, NM_001130080.1:c.54C>T, NM_001288954.2:c.54C>T, NM_001288995.2:c.54C>T, NM_001288957.2:c.54C>T, NM_001288958.2:c.54C>T, NM_001288952.2:c.54C>T, NM_001288952.1:c.54C>T, NM_001288956.2:c.54C>T, NM_001288956.1:c.54C>T, NM_001366993.1:c.54C>T, XM_047431348.1:c.54C>T, NM_001366994.1:c.54C>T, NM_001288954.1:c.54C>T, XM_047431347.1:c.54C>T, XM_047431349.1:c.54C>T, NM_001288957.1:c.54C>T, NM_001288995.1:c.54C>T, NM_001288958.1:c.54C>T
3.
rs1490288908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:94109780
(GRCh38)
14:94576126
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94109779:C:T
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
4.
rs1490177209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94115923
(GRCh38)
14:94582260
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94115922:G:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- HGVS:
NC_000014.9:g.94115923G>A, NC_000014.8:g.94582260G>A, NT_187601.1:g.1230485G>A, NM_005532.5:c.255G>A, NM_005532.4:c.255G>A, NM_005532.3:c.255G>A, NM_001130080.3:c.264G>A, NM_001130080.2:c.264G>A, NM_001130080.1:c.264G>A, NM_001288957.2:c.255G>A, NM_001288995.2:c.255G>A, NM_001288954.2:c.255G>A, NM_001288958.2:c.255G>A, NM_001288960.2:c.120G>A, NM_001288952.2:c.264G>A, NM_001288952.1:c.264G>A, NM_001288956.2:c.264G>A, NM_001288956.1:c.264G>A, NM_001366993.1:c.264G>A, XM_047431348.1:c.264G>A, XM_047431346.1:c.295G>A, NM_001288959.1:c.135G>A, NM_001288959.2:c.135G>A, NM_001366994.1:c.264G>A, NM_001288954.1:c.255G>A, NM_001288995.1:c.255G>A, NM_001288960.1:c.120G>A, XM_047431347.1:c.264G>A, XM_047431349.1:c.264G>A, XM_047431350.1:c.135G>A, NM_001288957.1:c.255G>A, NM_001288958.1:c.255G>A, XP_047287302.1:p.Gly99Ser
5.
rs1489587820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:94116544
(GRCh38)
14:94582881
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94116543:C:G
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,3_prime_UTR_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_000014.9:g.94116544C>G, NT_187601.1:g.1231106C>G, NC_000014.8:g.94582881C>G, NM_005532.5:c.*17C>G, NM_005532.4:c.*17C>G, NM_005532.3:c.*17C>G, NM_001130080.3:c.*17C>G, NM_001130080.2:c.*17C>G, NM_001130080.1:c.*17C>G, NM_001288957.2:c.*17C>G, NM_001288995.2:c.*17C>G, NM_001288954.2:c.*17C>G, NM_001288958.2:c.*17C>G, NM_001288960.2:c.*17C>G, NM_001288952.2:c.*17C>G, NM_001288952.1:c.*17C>G, NM_001288956.2:c.*17C>G, NM_001288956.1:c.*17C>G, NM_001288959.2:c.*17C>G, NM_001288959.1:c.*17C>G, XM_047431347.1:c.*17C>G, XM_047431349.1:c.*17C>G, XM_047431348.1:c.*17C>G, NM_001366994.1:c.*17C>G, XM_047431346.1:c.417C>G, NM_001288957.1:c.*17C>G, NM_001288995.1:c.*17C>G, NM_001288960.1:c.*17C>G, NM_001366993.1:c.*17C>G, XM_047431350.1:c.*17C>G, NM_001288954.1:c.*17C>G, NM_001288958.1:c.*17C>G
6.
rs1489156946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:94112354
(GRCh38)
14:94578700
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94112353:T:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489156586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGA>-
[Show Flanks]
- Chromosome:
- 14:94108765
(GRCh38)
14:94575111
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94108763:AAGAGA:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488679737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:94115974
(GRCh38)
14:94582311
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94115973:G:A,NC_000014.9:94115973:G:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000006/1
(GnomAD_exomes)
A=0.000071/1
(TOMMO)
- HGVS:
9.
rs1488520034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:94109270
(GRCh38)
14:94575616
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94109269:C:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488166769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:94111643
(GRCh38)
14:94577989
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94111642:A:T
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.94111643A>T, NT_187601.1:g.1226205A>T, NC_000014.8:g.94577989A>T, NM_005532.5:c.-40A>T, NM_005532.4:c.-40A>T, NM_005532.3:c.-40A>T, NM_001130080.3:c.-40A>T, NM_001130080.2:c.-40A>T, NM_001130080.1:c.-40A>T, NM_001288954.2:c.-40A>T, NM_001288952.2:c.-40A>T, NM_001288952.1:c.-40A>T, XM_047431347.1:c.-40A>T, NM_001288954.1:c.-40A>T
11.
rs1487560735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:94113006
(GRCh38)
14:94579352
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94113005:T:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1486741394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94116096
(GRCh38)
14:94582433
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94116095:G:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000015/2
(GnomAD_exomes)
A=0.000342/1
(KOREAN)
- HGVS:
13.
rs1486560002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:94109972
(GRCh38)
14:94576318
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94109971:C:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
14.
rs1486514178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:94110050
(GRCh38)
14:94576396
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94110049:C:G
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486387307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:94112168
(GRCh38)
14:94578514
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94112167:T:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1486201712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:94108844
(GRCh38)
14:94575190
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94108843:A:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1484562703 has merged into rs1166741734 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGGGGAGGG>-,GAGGG,GAGGGGAGGGGAGGG,GAGGGGAGGGGAGGGGAGGG
[Show Flanks]
- Chromosome:
- 14:94109333
(GRCh38)
14:94575679
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94109320:GGGAGGGGAGGGGAGGGGAGGG:GGGAGGGGAGGG,NC_000014.9:94109320:GGGAGGGGAGGGGAGGGGAGGG:GGGAGGGGAGGGGAGGG,NC_000014.9:94109320:GGGAGGGGAGGGGAGGGGAGGG:GGGAGGGGAGGGGAGGGGAGGGGAGGG,NC_000014.9:94109320:GGGAGGGGAGGGGAGGGGAGGG:GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGAGGGGAGGGGAGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000037/1
(TOMMO)
GGGAGGGGAG=0.000156/1
(1000Genomes)
- HGVS:
NC_000014.9:g.94109323GAGGG[2], NC_000014.9:g.94109323GAGGG[3], NC_000014.9:g.94109323GAGGG[5], NC_000014.9:g.94109323GAGGG[6], NT_187601.1:g.1223885GAGGG[2], NT_187601.1:g.1223885GAGGG[3], NT_187601.1:g.1223885GAGGG[5], NT_187601.1:g.1223885GAGGG[6], NC_000014.8:g.94575669GAGGG[2], NC_000014.8:g.94575669GAGGG[3], NC_000014.8:g.94575669GAGGG[5], NC_000014.8:g.94575669GAGGG[6]
19.
rs1483382792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:94116702
(GRCh38)
14:94583039
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94116701:A:C
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1482597479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:94110106
(GRCh38)
14:94576452
(GRCh37)
- Canonical SPDI:
- NC_000014.9:94110105:G:A
- Gene:
- IFI27 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000318/5
(TOMMO)
- HGVS: