Links from Gene
Items: 1 to 20 of 1000
1.
rs1491561647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:29318984
(GRCh38)
12:29471918
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29318984:C:CC
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491534082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:29310315
(GRCh38)
12:29463248
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29310313:ATA:A
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491506453 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TT
[Show Flanks]
- Chromosome:
- 12:29310314
(GRCh38)
12:29463248
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29310314:T:TT,NC_000012.12:29310314:T:TTT
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TT=0.000007/1
(GnomAD)
TT=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491430688 has merged into rs71042981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:29299222
(GRCh38)
12:29452155
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.29299222_29299235del, NC_000012.12:g.29299223_29299235del, NC_000012.12:g.29299224_29299235del, NC_000012.12:g.29299225_29299235del, NC_000012.12:g.29299226_29299235del, NC_000012.12:g.29299227_29299235del, NC_000012.12:g.29299228_29299235del, NC_000012.12:g.29299229_29299235del, NC_000012.12:g.29299230_29299235del, NC_000012.12:g.29299231_29299235del, NC_000012.12:g.29299232_29299235del, NC_000012.12:g.29299233_29299235del, NC_000012.12:g.29299234_29299235del, NC_000012.12:g.29299235del, NC_000012.12:g.29299235dup, NC_000012.12:g.29299234_29299235dup, NC_000012.12:g.29299233_29299235dup, NC_000012.12:g.29299232_29299235dup, NC_000012.12:g.29299231_29299235dup, NC_000012.12:g.29299230_29299235dup, NC_000012.12:g.29299229_29299235dup, NC_000012.12:g.29299228_29299235dup, NC_000012.12:g.29299227_29299235dup, NC_000012.12:g.29299226_29299235dup, NC_000012.12:g.29299225_29299235dup, NC_000012.12:g.29299224_29299235dup, NC_000012.12:g.29299223_29299235dup, NC_000012.12:g.29299222_29299235dup, NC_000012.12:g.29299221_29299235dup, NC_000012.12:g.29299220_29299235dup, NC_000012.12:g.29299219_29299235dup, NC_000012.12:g.29299218_29299235dup, NC_000012.12:g.29299217_29299235dup, NC_000012.12:g.29299216_29299235dup, NC_000012.12:g.29299215_29299235dup, NC_000012.12:g.29299214_29299235dup, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452155_29452168del, NC_000012.11:g.29452156_29452168del, NC_000012.11:g.29452157_29452168del, NC_000012.11:g.29452158_29452168del, NC_000012.11:g.29452159_29452168del, NC_000012.11:g.29452160_29452168del, NC_000012.11:g.29452161_29452168del, NC_000012.11:g.29452162_29452168del, NC_000012.11:g.29452163_29452168del, NC_000012.11:g.29452164_29452168del, NC_000012.11:g.29452165_29452168del, NC_000012.11:g.29452166_29452168del, NC_000012.11:g.29452167_29452168del, NC_000012.11:g.29452168del, NC_000012.11:g.29452168dup, NC_000012.11:g.29452167_29452168dup, NC_000012.11:g.29452166_29452168dup, NC_000012.11:g.29452165_29452168dup, NC_000012.11:g.29452164_29452168dup, NC_000012.11:g.29452163_29452168dup, NC_000012.11:g.29452162_29452168dup, NC_000012.11:g.29452161_29452168dup, NC_000012.11:g.29452160_29452168dup, NC_000012.11:g.29452159_29452168dup, NC_000012.11:g.29452158_29452168dup, NC_000012.11:g.29452157_29452168dup, NC_000012.11:g.29452156_29452168dup, NC_000012.11:g.29452155_29452168dup, NC_000012.11:g.29452154_29452168dup, NC_000012.11:g.29452153_29452168dup, NC_000012.11:g.29452152_29452168dup, NC_000012.11:g.29452151_29452168dup, NC_000012.11:g.29452150_29452168dup, NC_000012.11:g.29452149_29452168dup, NC_000012.11:g.29452148_29452168dup, NC_000012.11:g.29452147_29452168dup, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491413957 has merged into rs61236613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:29311681
(GRCh38)
12:29464614
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29311666:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
CACA=0.09493/352
(TWINSUK)
CACA=0.09886/381
(ALSPAC)
- HGVS:
NC_000012.12:g.29311667CA[7], NC_000012.12:g.29311667CA[9], NC_000012.12:g.29311667CA[10], NC_000012.12:g.29311667CA[11], NC_000012.12:g.29311667CA[12], NC_000012.12:g.29311667CA[13], NC_000012.12:g.29311667CA[15], NC_000012.12:g.29311667CA[16], NC_000012.12:g.29311667CA[17], NC_000012.12:g.29311667CA[18], NC_000012.12:g.29311667CA[19], NC_000012.12:g.29311667CA[20], NC_000012.12:g.29311667CA[21], NC_000012.12:g.29311667CA[22], NC_000012.12:g.29311667CA[23], NC_000012.12:g.29311667CA[24], NC_000012.12:g.29311667CA[25], NC_000012.11:g.29464600CA[7], NC_000012.11:g.29464600CA[9], NC_000012.11:g.29464600CA[10], NC_000012.11:g.29464600CA[11], NC_000012.11:g.29464600CA[12], NC_000012.11:g.29464600CA[13], NC_000012.11:g.29464600CA[15], NC_000012.11:g.29464600CA[16], NC_000012.11:g.29464600CA[17], NC_000012.11:g.29464600CA[18], NC_000012.11:g.29464600CA[19], NC_000012.11:g.29464600CA[20], NC_000012.11:g.29464600CA[21], NC_000012.11:g.29464600CA[22], NC_000012.11:g.29464600CA[23], NC_000012.11:g.29464600CA[24], NC_000012.11:g.29464600CA[25]
6.
rs1491378951 has merged into rs71042981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:29299222
(GRCh38)
12:29452155
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:29299213:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.29299222_29299235del, NC_000012.12:g.29299223_29299235del, NC_000012.12:g.29299224_29299235del, NC_000012.12:g.29299225_29299235del, NC_000012.12:g.29299226_29299235del, NC_000012.12:g.29299227_29299235del, NC_000012.12:g.29299228_29299235del, NC_000012.12:g.29299229_29299235del, NC_000012.12:g.29299230_29299235del, NC_000012.12:g.29299231_29299235del, NC_000012.12:g.29299232_29299235del, NC_000012.12:g.29299233_29299235del, NC_000012.12:g.29299234_29299235del, NC_000012.12:g.29299235del, NC_000012.12:g.29299235dup, NC_000012.12:g.29299234_29299235dup, NC_000012.12:g.29299233_29299235dup, NC_000012.12:g.29299232_29299235dup, NC_000012.12:g.29299231_29299235dup, NC_000012.12:g.29299230_29299235dup, NC_000012.12:g.29299229_29299235dup, NC_000012.12:g.29299228_29299235dup, NC_000012.12:g.29299227_29299235dup, NC_000012.12:g.29299226_29299235dup, NC_000012.12:g.29299225_29299235dup, NC_000012.12:g.29299224_29299235dup, NC_000012.12:g.29299223_29299235dup, NC_000012.12:g.29299222_29299235dup, NC_000012.12:g.29299221_29299235dup, NC_000012.12:g.29299220_29299235dup, NC_000012.12:g.29299219_29299235dup, NC_000012.12:g.29299218_29299235dup, NC_000012.12:g.29299217_29299235dup, NC_000012.12:g.29299216_29299235dup, NC_000012.12:g.29299215_29299235dup, NC_000012.12:g.29299214_29299235dup, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.29299235_29299236insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452155_29452168del, NC_000012.11:g.29452156_29452168del, NC_000012.11:g.29452157_29452168del, NC_000012.11:g.29452158_29452168del, NC_000012.11:g.29452159_29452168del, NC_000012.11:g.29452160_29452168del, NC_000012.11:g.29452161_29452168del, NC_000012.11:g.29452162_29452168del, NC_000012.11:g.29452163_29452168del, NC_000012.11:g.29452164_29452168del, NC_000012.11:g.29452165_29452168del, NC_000012.11:g.29452166_29452168del, NC_000012.11:g.29452167_29452168del, NC_000012.11:g.29452168del, NC_000012.11:g.29452168dup, NC_000012.11:g.29452167_29452168dup, NC_000012.11:g.29452166_29452168dup, NC_000012.11:g.29452165_29452168dup, NC_000012.11:g.29452164_29452168dup, NC_000012.11:g.29452163_29452168dup, NC_000012.11:g.29452162_29452168dup, NC_000012.11:g.29452161_29452168dup, NC_000012.11:g.29452160_29452168dup, NC_000012.11:g.29452159_29452168dup, NC_000012.11:g.29452158_29452168dup, NC_000012.11:g.29452157_29452168dup, NC_000012.11:g.29452156_29452168dup, NC_000012.11:g.29452155_29452168dup, NC_000012.11:g.29452154_29452168dup, NC_000012.11:g.29452153_29452168dup, NC_000012.11:g.29452152_29452168dup, NC_000012.11:g.29452151_29452168dup, NC_000012.11:g.29452150_29452168dup, NC_000012.11:g.29452149_29452168dup, NC_000012.11:g.29452148_29452168dup, NC_000012.11:g.29452147_29452168dup, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.29452168_29452169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1491274013 has merged into rs34069202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 12:29295599
(GRCh38)
12:29448532
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29295596:ATAT:AT,NC_000012.12:29295596:ATAT:ATATAT
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATAT=0.078038/1066
(
ALFA)
-=0.196667/118
(NorthernSweden)
-=0.212425/212
(GoNL)
-=0.251728/66630
(TOPMED)
-=0.265176/1328
(1000Genomes)
-=0.275/11
(GENOME_DK)
-=0.306059/5130
(TOMMO)
-=0.339806/70
(Vietnamese)
- HGVS:
9.
rs1491224646 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:29299213
(GRCh38)
12:29452146
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29299212:CA:
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00209/35
(TOMMO)
- HGVS:
10.
rs1491150398 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:29299214
(GRCh38)
12:29452148
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29299214::G
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00051/6
(
ALFA)
G=0.00043/7
(TOMMO)
G=0.00077/53
(GnomAD)
- HGVS:
11.
rs1491141502 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:29311694
(GRCh38)
12:29464627
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29311693:AT:
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000367/6
(
ALFA)
-=0.000546/1
(Korea1K)
-=0.000839/117
(GnomAD)
-=0.003291/55
(TOMMO)
- HGVS:
12.
rs1491055572 has merged into rs61390530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:29295769
(GRCh38)
12:29448702
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29295756:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.29295769_29295779del, NC_000012.12:g.29295770_29295779del, NC_000012.12:g.29295771_29295779del, NC_000012.12:g.29295773_29295779del, NC_000012.12:g.29295774_29295779del, NC_000012.12:g.29295775_29295779del, NC_000012.12:g.29295776_29295779del, NC_000012.12:g.29295777_29295779del, NC_000012.12:g.29295778_29295779del, NC_000012.12:g.29295779del, NC_000012.12:g.29295779dup, NC_000012.12:g.29295778_29295779dup, NC_000012.12:g.29295777_29295779dup, NC_000012.12:g.29295776_29295779dup, NC_000012.12:g.29295775_29295779dup, NC_000012.12:g.29295774_29295779dup, NC_000012.12:g.29295773_29295779dup, NC_000012.12:g.29295772_29295779dup, NC_000012.12:g.29295771_29295779dup, NC_000012.12:g.29295770_29295779dup, NC_000012.12:g.29295761_29295779dup, NC_000012.12:g.29295779_29295780insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.29448702_29448712del, NC_000012.11:g.29448703_29448712del, NC_000012.11:g.29448704_29448712del, NC_000012.11:g.29448706_29448712del, NC_000012.11:g.29448707_29448712del, NC_000012.11:g.29448708_29448712del, NC_000012.11:g.29448709_29448712del, NC_000012.11:g.29448710_29448712del, NC_000012.11:g.29448711_29448712del, NC_000012.11:g.29448712del, NC_000012.11:g.29448712dup, NC_000012.11:g.29448711_29448712dup, NC_000012.11:g.29448710_29448712dup, NC_000012.11:g.29448709_29448712dup, NC_000012.11:g.29448708_29448712dup, NC_000012.11:g.29448707_29448712dup, NC_000012.11:g.29448706_29448712dup, NC_000012.11:g.29448705_29448712dup, NC_000012.11:g.29448704_29448712dup, NC_000012.11:g.29448703_29448712dup, NC_000012.11:g.29448694_29448712dup, NC_000012.11:g.29448712_29448713insTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1490810299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:29318933
(GRCh38)
12:29471866
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29318932:C:G,NC_000012.12:29318932:C:T
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490766560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:29306571
(GRCh38)
12:29459504
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29306570:T:G
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490668358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:29296590
(GRCh38)
12:29449523
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29296589:T:C
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490616620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:29298857
(GRCh38)
12:29451790
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29298856:C:G,NC_000012.12:29298856:C:T
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490602152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:29305993
(GRCh38)
12:29458926
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29305992:T:G
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490428908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:29315863
(GRCh38)
12:29468796
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29315862:T:C
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490391375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:29314531
(GRCh38)
12:29467464
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29314530:A:G
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1490374740 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:29299213
(GRCh38)
12:29452146
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29299212:C:
- Gene:
- FAR2 (Varview), LOC100506606 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0018/30
(TOMMO)
- HGVS: