Links from Gene
Items: 1 to 20 of 3483
1.
rs1490938918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160946984
(GRCh38)
1:160916774
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160946983:A:G
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490458137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160951751
(GRCh38)
1:160921541
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160951750:A:G
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
3.
rs1490384571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:160954251
(GRCh38)
1:160924041
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160954250:C:G
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490310090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:160954260
(GRCh38)
1:160924050
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160954259:C:T
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489799538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:160945478
(GRCh38)
1:160915268
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160945477:C:G
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489791880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:160946577
(GRCh38)
1:160916367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160946576:G:T
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489204642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160944606
(GRCh38)
1:160914396
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160944605:A:G
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000037/5
(GnomAD)
- HGVS:
8.
rs1489149379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:160950596
(GRCh38)
1:160920386
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160950595:C:T
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1489148261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160959319
(GRCh38)
1:160929109
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160959318:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489043871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160948037
(GRCh38)
1:160917827
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160948036:A:G
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1488846976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:160945451
(GRCh38)
1:160915241
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160945450:G:T
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488816332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:160946121
(GRCh38)
1:160915911
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160946120:C:A
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488646428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:160949498
(GRCh38)
1:160919288
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160949497:C:A
- Gene:
- ITLN2 (Varview), LOC101928372 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000076/20
(TOPMED)
- HGVS:
14.
rs1488599907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:160953170
(GRCh38)
1:160922960
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160953169:A:G
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488541660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:160956275
(GRCh38)
1:160926065
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160956274:G:A
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488392303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:160955425
(GRCh38)
1:160925215
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160955424:G:T
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488342422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:160956310
(GRCh38)
1:160926100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160956309:C:A
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488041312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:160953948
(GRCh38)
1:160923738
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160953947:A:C
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487999699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:160951472
(GRCh38)
1:160921262
(GRCh37)
- Canonical SPDI:
- NC_000001.11:160951471:C:A
- Gene:
- ITLN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: