Links from Gene
Items: 1 to 20 of 1000
2.
rs1491471064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 5:149390227
(GRCh38)
5:148769790
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149390225:CTC:C
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
3.
rs1491363168 has merged into rs36121550 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:149403012
(GRCh38)
5:148782575
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149403002:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IL17B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.149403012_149403025del, NC_000005.10:g.149403013_149403025del, NC_000005.10:g.149403014_149403025del, NC_000005.10:g.149403015_149403025del, NC_000005.10:g.149403016_149403025del, NC_000005.10:g.149403018_149403025del, NC_000005.10:g.149403020_149403025del, NC_000005.10:g.149403021_149403025del, NC_000005.10:g.149403022_149403025del, NC_000005.10:g.149403023_149403025del, NC_000005.10:g.149403024_149403025del, NC_000005.10:g.149403025del, NC_000005.10:g.149403025dup, NC_000005.10:g.149403024_149403025dup, NC_000005.10:g.149403023_149403025dup, NC_000005.10:g.149403022_149403025dup, NC_000005.10:g.149403019_149403025dup, NC_000005.9:g.148782575_148782588del, NC_000005.9:g.148782576_148782588del, NC_000005.9:g.148782577_148782588del, NC_000005.9:g.148782578_148782588del, NC_000005.9:g.148782579_148782588del, NC_000005.9:g.148782581_148782588del, NC_000005.9:g.148782583_148782588del, NC_000005.9:g.148782584_148782588del, NC_000005.9:g.148782585_148782588del, NC_000005.9:g.148782586_148782588del, NC_000005.9:g.148782587_148782588del, NC_000005.9:g.148782588del, NC_000005.9:g.148782588dup, NC_000005.9:g.148782587_148782588dup, NC_000005.9:g.148782586_148782588dup, NC_000005.9:g.148782585_148782588dup, NC_000005.9:g.148782582_148782588dup
4.
rs1491332191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:149390232
(GRCh38)
5:148769795
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149390230:TGT:T
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00067/11
(
ALFA)
-=0.00099/17
(TOMMO)
-=0.00269/12
(Estonian)
- HGVS:
5.
rs1491235916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACACACACACACACACACACACACACAGA,CACACACACACACACACACACACACAGA,CACACACACACACACACACACACAGA,CACACACACACACACACACACAGA,CACACACACACACACACACACAGAGA,CACACACACACACACACACAGA,CACACACACACACACACACAGAGA,CACACACACACACACACAGA,CACACACACACACACACAGAGA,CACACACACACACACAGA,CACACACACACACACAGAGA,CACACACACACACACAGAGAGAGAGA,CACACACACACACAGA,CACACACACACACAGAGA,CACACACACACACAGAGAGA,CACACACACACACAGAGAGAGAGA,CACACACACACAGA,CACACACACACAGAGA,CACACACACACAGAGAGA,CACACACACACAGAGAGAGAGA,CACACACACAGA,CACACACACAGAGA,CACACACACAGAGAGAGAGA,CACACACAGA,CACACACAGAGA,CACACACAGAGAGA,CACACACAGAGAGAGAGA,CACACAGA,CACACAGAGA,CACACAGAGAGA,CACACAGAGAGAGAGA,CACACGA,CACAGA,CACAGAGA,CACAGAGAGA,CACAGAGAGAGAGA,CAGA,CAGAGA,CAGAGAGA,CAGAGAGAGA,CAGAGAGAGAGA,CAGAGAGAGAGAGA,CCCAGA
[Show Flanks]
- Chromosome:
- 5:149390630
(GRCh38)
5:148770194
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149390630:A:ACACACACACACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACACAGAGAGA,NC_000005.10:149390630:A:ACACACACACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACACACACAGA,NC_000005.10:149390630:A:ACACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACACAGAGAGA,NC_000005.10:149390630:A:ACACACACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACACACAGA,NC_000005.10:149390630:A:ACACACACACAGAGA,NC_000005.10:149390630:A:ACACACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACACAGA,NC_000005.10:149390630:A:ACACACACAGAGA,NC_000005.10:149390630:A:ACACACACAGAGAGA,NC_000005.10:149390630:A:ACACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACAGA,NC_000005.10:149390630:A:ACACACAGAGA,NC_000005.10:149390630:A:ACACACAGAGAGA,NC_000005.10:149390630:A:ACACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACACACGA,NC_000005.10:149390630:A:ACACAGA,NC_000005.10:149390630:A:ACACAGAGA,NC_000005.10:149390630:A:ACACAGAGAGA,NC_000005.10:149390630:A:ACACAGAGAGAGAGA,NC_000005.10:149390630:A:ACAGA,NC_000005.10:149390630:A:ACAGAGA,NC_000005.10:149390630:A:ACAGAGAGA,NC_000005.10:149390630:A:ACAGAGAGAGA,NC_000005.10:149390630:A:ACAGAGAGAGAGA,NC_000005.10:149390630:A:ACAGAGAGAGAGAGA,NC_000005.10:149390630:A:ACCCAGA
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACAGA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.149390631AC[14]AGA[1], NC_000005.10:g.149390631AC[13]AGA[1], NC_000005.10:g.149390631AC[12]AGA[1], NC_000005.10:g.149390631AC[11]AGA[1], NC_000005.10:g.149390631AC[11]AG[2]A[1], NC_000005.10:g.149390631AC[10]AGA[1], NC_000005.10:g.149390631AC[10]AG[2]A[1], NC_000005.10:g.149390631AC[9]AGA[1], NC_000005.10:g.149390631AC[9]AG[2]A[1], NC_000005.10:g.149390631AC[8]AGA[1], NC_000005.10:g.149390631AC[8]AG[2]A[1], NC_000005.10:g.149390631AC[8]AG[5]A[1], NC_000005.10:g.149390631AC[7]AGA[1], NC_000005.10:g.149390631AC[7]AG[2]A[1], NC_000005.10:g.149390631AC[7]AG[3]A[1], NC_000005.10:g.149390631AC[7]AG[5]A[1], NC_000005.10:g.149390631AC[6]AGA[1], NC_000005.10:g.149390631AC[6]AG[2]A[1], NC_000005.10:g.149390631AC[6]AG[3]A[1], NC_000005.10:g.149390631AC[6]AG[5]A[1], NC_000005.10:g.149390631AC[5]AGA[1], NC_000005.10:g.149390631AC[5]AG[2]A[1], NC_000005.10:g.149390631AC[5]AG[5]A[1], NC_000005.10:g.149390631AC[4]AGA[1], NC_000005.10:g.149390631AC[4]AG[2]A[1], NC_000005.10:g.149390631AC[4]AG[3]A[1], NC_000005.10:g.149390631AC[4]AG[5]A[1], NC_000005.10:g.149390631AC[3]AGA[1], NC_000005.10:g.149390631AC[3]AG[2]A[1], NC_000005.10:g.149390631AC[3]AG[3]A[1], NC_000005.10:g.149390631AC[3]AG[5]A[1], NC_000005.10:g.149390631AC[3]GA[1], NC_000005.10:g.149390631AC[2]AGA[1], NC_000005.10:g.149390631AC[2]AG[2]A[1], NC_000005.10:g.149390631AC[2]AG[3]A[1], NC_000005.10:g.149390631AC[2]AG[5]A[1], NC_000005.10:g.149390631_149390632insCAGA, NC_000005.10:g.149390631_149390632insCAGAGA, NC_000005.10:g.149390631_149390632insCAGAGAGA, NC_000005.10:g.149390631_149390632insCAGAGAGAGA, NC_000005.10:g.149390631_149390632insCAGAGAGAGAGA, NC_000005.10:g.149390631_149390632insCAGAGAGAGAGAGA, NC_000005.10:g.149390631_149390632insCCCAGA, NC_000005.9:g.148770194AC[14]AGA[1], NC_000005.9:g.148770194AC[13]AGA[1], NC_000005.9:g.148770194AC[12]AGA[1], NC_000005.9:g.148770194AC[11]AGA[1], NC_000005.9:g.148770194AC[11]AG[2]A[1], NC_000005.9:g.148770194AC[10]AGA[1], NC_000005.9:g.148770194AC[10]AG[2]A[1], NC_000005.9:g.148770194AC[9]AGA[1], NC_000005.9:g.148770194AC[9]AG[2]A[1], NC_000005.9:g.148770194AC[8]AGA[1], NC_000005.9:g.148770194AC[8]AG[2]A[1], NC_000005.9:g.148770194AC[8]AG[5]A[1], NC_000005.9:g.148770194AC[7]AGA[1], NC_000005.9:g.148770194AC[7]AG[2]A[1], NC_000005.9:g.148770194AC[7]AG[3]A[1], NC_000005.9:g.148770194AC[7]AG[5]A[1], NC_000005.9:g.148770194AC[6]AGA[1], NC_000005.9:g.148770194AC[6]AG[2]A[1], NC_000005.9:g.148770194AC[6]AG[3]A[1], NC_000005.9:g.148770194AC[6]AG[5]A[1], NC_000005.9:g.148770194AC[5]AGA[1], NC_000005.9:g.148770194AC[5]AG[2]A[1], NC_000005.9:g.148770194AC[5]AG[5]A[1], NC_000005.9:g.148770194AC[4]AGA[1], NC_000005.9:g.148770194AC[4]AG[2]A[1], NC_000005.9:g.148770194AC[4]AG[3]A[1], NC_000005.9:g.148770194AC[4]AG[5]A[1], NC_000005.9:g.148770194AC[3]AGA[1], NC_000005.9:g.148770194AC[3]AG[2]A[1], NC_000005.9:g.148770194AC[3]AG[3]A[1], NC_000005.9:g.148770194AC[3]AG[5]A[1], NC_000005.9:g.148770194AC[3]GA[1], NC_000005.9:g.148770194AC[2]AGA[1], NC_000005.9:g.148770194AC[2]AG[2]A[1], NC_000005.9:g.148770194AC[2]AG[3]A[1], NC_000005.9:g.148770194AC[2]AG[5]A[1], NC_000005.9:g.148770194_148770195insCAGA, NC_000005.9:g.148770194_148770195insCAGAGA, NC_000005.9:g.148770194_148770195insCAGAGAGA, NC_000005.9:g.148770194_148770195insCAGAGAGAGA, NC_000005.9:g.148770194_148770195insCAGAGAGAGAGA, NC_000005.9:g.148770194_148770195insCAGAGAGAGAGAGA, NC_000005.9:g.148770194_148770195insCCCAGA
6.
rs1491169321 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC,CCCCC,CCCCCC
[Show Flanks]
- Chromosome:
- 5:149390231
(GRCh38)
5:148769795
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149390231::CC,NC_000005.10:149390231::CCCCC,NC_000005.10:149390231::CCCCCC
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
CC=0.000166/19
(GnomAD)
CC=0.000355/6
(TOMMO)
- HGVS:
7.
rs1491041074 has merged into rs531690396 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:149384922
(GRCh38)
5:148764485
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149384909:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0.00053/8
(
ALFA)
-=0.12041/603
(1000Genomes)
- HGVS:
NC_000005.10:g.149384922_149384926del, NC_000005.10:g.149384923_149384926del, NC_000005.10:g.149384924_149384926del, NC_000005.10:g.149384925_149384926del, NC_000005.10:g.149384926del, NC_000005.10:g.149384926dup, NC_000005.10:g.149384925_149384926dup, NC_000005.10:g.149384924_149384926dup, NC_000005.10:g.149384923_149384926dup, NC_000005.10:g.149384922_149384926dup, NC_000005.9:g.148764485_148764489del, NC_000005.9:g.148764486_148764489del, NC_000005.9:g.148764487_148764489del, NC_000005.9:g.148764488_148764489del, NC_000005.9:g.148764489del, NC_000005.9:g.148764489dup, NC_000005.9:g.148764488_148764489dup, NC_000005.9:g.148764487_148764489dup, NC_000005.9:g.148764486_148764489dup, NC_000005.9:g.148764485_148764489dup
8.
rs1491024824 has merged into rs370816490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:149402698
(GRCh38)
5:148782261
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:149402689:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IL17B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.0783/39
(NorthernSweden)
- HGVS:
NC_000005.10:g.149402698_149402708del, NC_000005.10:g.149402699_149402708del, NC_000005.10:g.149402700_149402708del, NC_000005.10:g.149402702_149402708del, NC_000005.10:g.149402703_149402708del, NC_000005.10:g.149402704_149402708del, NC_000005.10:g.149402706_149402708del, NC_000005.10:g.149402707_149402708del, NC_000005.10:g.149402708del, NC_000005.10:g.149402708dup, NC_000005.10:g.149402707_149402708dup, NC_000005.10:g.149402706_149402708dup, NC_000005.10:g.149402705_149402708dup, NC_000005.10:g.149402704_149402708dup, NC_000005.10:g.149402703_149402708dup, NC_000005.10:g.149402701_149402708dup, NC_000005.9:g.148782261_148782271del, NC_000005.9:g.148782262_148782271del, NC_000005.9:g.148782263_148782271del, NC_000005.9:g.148782265_148782271del, NC_000005.9:g.148782266_148782271del, NC_000005.9:g.148782267_148782271del, NC_000005.9:g.148782269_148782271del, NC_000005.9:g.148782270_148782271del, NC_000005.9:g.148782271del, NC_000005.9:g.148782271dup, NC_000005.9:g.148782270_148782271dup, NC_000005.9:g.148782269_148782271dup, NC_000005.9:g.148782268_148782271dup, NC_000005.9:g.148782267_148782271dup, NC_000005.9:g.148782266_148782271dup, NC_000005.9:g.148782264_148782271dup
9.
rs1490931482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:149381779
(GRCh38)
5:148761342
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149381778:T:C
- Gene:
- IL17B (Varview), LOC101927046 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490847563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:149389120
(GRCh38)
5:148768683
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149389119:C:T
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490637435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:149399800
(GRCh38)
5:148779363
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149399799:T:G
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490509345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:149379764
(GRCh38)
5:148759327
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149379763:C:T
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490360955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:149389088
(GRCh38)
5:148768651
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149389087:C:A
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0038/7
(Korea1K)
- HGVS:
15.
rs1490264038 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 5:149393841
(GRCh38)
5:148773404
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149393840:AA:
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490040522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:149395729
(GRCh38)
5:148775292
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149395728:A:G
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
17.
rs1489892338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGCACCTCCTG>-
[Show Flanks]
- Chromosome:
- 5:149387116
(GRCh38)
5:148766679
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149387110:TCCTGTGCACCTCCTG:TCCTG
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCCTG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489838341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:149378643
(GRCh38)
5:148758206
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149378642:C:G
- Gene:
- IL17B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489677271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:149379383
(GRCh38)
5:148758946
(GRCh37)
- Canonical SPDI:
- NC_000005.10:149379382:G:A
- Gene:
- IL17B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS: