Links from Gene
Items: 1 to 20 of 1575
1.
rs1490158107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:52190236
(GRCh38)
6:52055034
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52190235:C:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1489471433 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:52185927
(GRCh38)
6:52050725
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185926:A:
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489414458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:52190459
(GRCh38)
6:52055257
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52190458:C:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1487824250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:52185546
(GRCh38)
6:52050344
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185545:A:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_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.
rs1487805259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:52190859
(GRCh38)
6:52055657
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52190858:G:C
- Gene:
- IL17A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487000714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:52189217
(GRCh38)
6:52054015
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52189216:C:A,NC_000006.12:52189216:C:T
- Gene:
- IL17A (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000031/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.52189217C>A, NC_000006.12:g.52189217C>T, NC_000006.11:g.52054015C>A, NC_000006.11:g.52054015C>T, NG_033021.1:g.7831C>A, NG_033021.1:g.7831C>T, NM_002190.3:c.393C>A, NM_002190.3:c.393C>T, NM_002190.2:c.393C>A, NM_002190.2:c.393C>T, NP_002181.1:p.Asn131Lys
9.
rs1486202670 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 6:52186747
(GRCh38)
6:52051545
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52186746:G:
- Gene:
- IL17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486005009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:52185320
(GRCh38)
6:52050118
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185319:A:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1485140796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:52185943
(GRCh38)
6:52050741
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185942:T:C
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485109994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:52185833
(GRCh38)
6:52050631
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185832:C:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485026229 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:52188927
(GRCh38)
6:52053725
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52188926:A:
- Gene:
- IL17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
-=0.000625/4
(1000Genomes)
- HGVS:
14.
rs1484778772 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:52185453
(GRCh38)
6:52050251
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52185452:T:
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484421711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:52189784
(GRCh38)
6:52054582
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52189783:T:C
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483318626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:52189157
(GRCh38)
6:52053955
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52189156:C:T
- Gene:
- IL17A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1483287536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:52187997
(GRCh38)
6:52052795
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52187996:C:A
- Gene:
- IL17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1482850673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:52184500
(GRCh38)
6:52049298
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52184499:A:G
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1482661620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:52184909
(GRCh38)
6:52049707
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52184908:A:T
- Gene:
- IL17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1481656918 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 6:52190848
(GRCh38)
6:52055646
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52190847:AG:
- Gene:
- IL17A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: