Links from Gene
Items: 1 to 20 of 1752
1.
rs1491546137 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:18176142
(GRCh38)
19:18286953
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18176142::A
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.00004/1
(GnomAD)
- HGVS:
2.
rs1490538717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:18178021
(GRCh38)
19:18288831
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18178020:A:T
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490280443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:18175894
(GRCh38)
19:18286704
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18175893:A:G
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000106/2
(TOMMO)
G=0.007187/21
(KOREAN)
- HGVS:
4.
rs1489488900 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:18173712
(GRCh38)
19:18284523
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18173712:G:GG
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
6.
rs1489132780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18174820
(GRCh38)
19:18285630
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18174819:C:T
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS:
7.
rs1489131103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:18173129
(GRCh38)
19:18283939
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18173128:T:A,NC_000019.10:18173128:T:C
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1488807338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:18172642
(GRCh38)
19:18283452
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18172641:G:A,NC_000019.10:18172641:G:C
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488413670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18173439
(GRCh38)
19:18284249
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18173438:G:A
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1487183590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18172572
(GRCh38)
19:18283382
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18172571:G:A
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
15.
rs1485801578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:18172555
(GRCh38)
19:18283365
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18172554:C:G
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
16.
rs1485758591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:18174944
(GRCh38)
19:18285754
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18174943:T:A
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1485525549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:18176425
(GRCh38)
19:18287235
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18176424:G:C
- Gene:
- IFI30 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000068/18
(TOPMED)
- HGVS: