Links from Gene
Items: 1 to 20 of 1000
1.
rs1491588606 has merged into rs5891670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAATTTTCAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:58149727
(GRCh38)
8:59062286
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTACAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAATTTTCAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.4319/2163
(1000Genomes)
- HGVS:
NC_000008.11:g.58149727_58149739del, NC_000008.11:g.58149728_58149739del, NC_000008.11:g.58149729_58149739del, NC_000008.11:g.58149730_58149739del, NC_000008.11:g.58149731_58149739del, NC_000008.11:g.58149732_58149739del, NC_000008.11:g.58149733_58149739del, NC_000008.11:g.58149734_58149739del, NC_000008.11:g.58149735_58149739del, NC_000008.11:g.58149736_58149739del, NC_000008.11:g.58149737_58149739del, NC_000008.11:g.58149738_58149739del, NC_000008.11:g.58149739del, NC_000008.11:g.58149739dup, NC_000008.11:g.58149738_58149739dup, NC_000008.11:g.58149737_58149739dup, NC_000008.11:g.58149736_58149739dup, NC_000008.11:g.58149734_58149739dup, NC_000008.11:g.58149732_58149739dup, NC_000008.11:g.58149722_58149739dup, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149719_58149739A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[30]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[29]T[5]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]T[4]A[22], NC_000008.11:g.58149719_58149739A[28]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]T[5]A[23], NC_000008.11:g.58149719_58149739A[28]T[6]A[22], NC_000008.11:g.58149719_58149739A[27]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]TTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]TTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]A[22], NC_000008.11:g.58149719_58149739A[27]T[4]ACAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[5]A[22], NC_000008.11:g.58149719_58149739A[27]T[5]A[23], NC_000008.11:g.58149719_58149739A[27]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[5]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[6]A[22], NC_000008.11:g.58149719_58149739A[27]T[6]A[23], NC_000008.11:g.58149719_58149739A[27]T[6]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[8]A[22], NC_000008.11:g.58149719_58149739A[26]TTTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[5]A[22], NC_000008.11:g.58149719_58149739A[26]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[25]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[25]T[5]A[22], NC_000008.11:g.58149719_58149739A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[21]CAAAATTTTCAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062286_59062298del, NC_000008.10:g.59062287_59062298del, NC_000008.10:g.59062288_59062298del, NC_000008.10:g.59062289_59062298del, NC_000008.10:g.59062290_59062298del, NC_000008.10:g.59062291_59062298del, NC_000008.10:g.59062292_59062298del, NC_000008.10:g.59062293_59062298del, NC_000008.10:g.59062294_59062298del, NC_000008.10:g.59062295_59062298del, NC_000008.10:g.59062296_59062298del, NC_000008.10:g.59062297_59062298del, NC_000008.10:g.59062298del, NC_000008.10:g.59062298dup, NC_000008.10:g.59062297_59062298dup, NC_000008.10:g.59062296_59062298dup, NC_000008.10:g.59062295_59062298dup, NC_000008.10:g.59062293_59062298dup, NC_000008.10:g.59062291_59062298dup, NC_000008.10:g.59062281_59062298dup, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062278_59062298A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[30]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[29]T[5]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]T[4]A[22], NC_000008.10:g.59062278_59062298A[28]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]T[5]A[23], NC_000008.10:g.59062278_59062298A[28]T[6]A[22], NC_000008.10:g.59062278_59062298A[27]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]TTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]TTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]A[22], NC_000008.10:g.59062278_59062298A[27]T[4]ACAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[5]A[22], NC_000008.10:g.59062278_59062298A[27]T[5]A[23], NC_000008.10:g.59062278_59062298A[27]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[5]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[6]A[22], NC_000008.10:g.59062278_59062298A[27]T[6]A[23], NC_000008.10:g.59062278_59062298A[27]T[6]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[8]A[22], NC_000008.10:g.59062278_59062298A[26]TTTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[5]A[22], NC_000008.10:g.59062278_59062298A[26]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[25]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[25]T[5]A[22], NC_000008.10:g.59062278_59062298A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[21]CAAAATTTTCAAAAAAAAAAAAAAAAAAAAA[1]
2.
rs1491575428 has merged into rs5891669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:58136015
(GRCh38)
8:59048574
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58136003:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.3802/1904
(1000Genomes)
- HGVS:
NC_000008.11:g.58136015_58136029del, NC_000008.11:g.58136016_58136029del, NC_000008.11:g.58136020_58136029del, NC_000008.11:g.58136021_58136029del, NC_000008.11:g.58136022_58136029del, NC_000008.11:g.58136023_58136029del, NC_000008.11:g.58136024_58136029del, NC_000008.11:g.58136025_58136029del, NC_000008.11:g.58136026_58136029del, NC_000008.11:g.58136027_58136029del, NC_000008.11:g.58136028_58136029del, NC_000008.11:g.58136029del, NC_000008.11:g.58136029dup, NC_000008.11:g.58136028_58136029dup, NC_000008.11:g.58136027_58136029dup, NC_000008.11:g.58136026_58136029dup, NC_000008.10:g.59048574_59048588del, NC_000008.10:g.59048575_59048588del, NC_000008.10:g.59048579_59048588del, NC_000008.10:g.59048580_59048588del, NC_000008.10:g.59048581_59048588del, NC_000008.10:g.59048582_59048588del, NC_000008.10:g.59048583_59048588del, NC_000008.10:g.59048584_59048588del, NC_000008.10:g.59048585_59048588del, NC_000008.10:g.59048586_59048588del, NC_000008.10:g.59048587_59048588del, NC_000008.10:g.59048588del, NC_000008.10:g.59048588dup, NC_000008.10:g.59048587_59048588dup, NC_000008.10:g.59048586_59048588dup, NC_000008.10:g.59048585_59048588dup
3.
rs1491570646 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 8:58001375
(GRCh38)
8:58913934
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58001374:GG:
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000019/2
(GnomAD)
- HGVS:
4.
rs1491568073 has merged into rs5891670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATTTTTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAATTTTCAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:58149727
(GRCh38)
8:59062286
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTACAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTTTTCAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTTTTAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58149718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAATTTTCAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.4319/2163
(1000Genomes)
- HGVS:
NC_000008.11:g.58149727_58149739del, NC_000008.11:g.58149728_58149739del, NC_000008.11:g.58149729_58149739del, NC_000008.11:g.58149730_58149739del, NC_000008.11:g.58149731_58149739del, NC_000008.11:g.58149732_58149739del, NC_000008.11:g.58149733_58149739del, NC_000008.11:g.58149734_58149739del, NC_000008.11:g.58149735_58149739del, NC_000008.11:g.58149736_58149739del, NC_000008.11:g.58149737_58149739del, NC_000008.11:g.58149738_58149739del, NC_000008.11:g.58149739del, NC_000008.11:g.58149739dup, NC_000008.11:g.58149738_58149739dup, NC_000008.11:g.58149737_58149739dup, NC_000008.11:g.58149736_58149739dup, NC_000008.11:g.58149734_58149739dup, NC_000008.11:g.58149732_58149739dup, NC_000008.11:g.58149722_58149739dup, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149739_58149740insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58149719_58149739A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[30]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[29]T[5]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]T[4]A[22], NC_000008.11:g.58149719_58149739A[28]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[28]T[5]A[23], NC_000008.11:g.58149719_58149739A[28]T[6]A[22], NC_000008.11:g.58149719_58149739A[27]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]TTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]TTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]A[22], NC_000008.11:g.58149719_58149739A[27]T[4]ACAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[5]A[22], NC_000008.11:g.58149719_58149739A[27]T[5]A[23], NC_000008.11:g.58149719_58149739A[27]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[5]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[6]A[22], NC_000008.11:g.58149719_58149739A[27]T[6]A[23], NC_000008.11:g.58149719_58149739A[27]T[6]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[27]T[8]A[22], NC_000008.11:g.58149719_58149739A[26]TTTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[26]T[5]A[22], NC_000008.11:g.58149719_58149739A[26]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[25]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[25]T[5]A[22], NC_000008.11:g.58149719_58149739A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.11:g.58149719_58149739A[21]CAAAATTTTCAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062286_59062298del, NC_000008.10:g.59062287_59062298del, NC_000008.10:g.59062288_59062298del, NC_000008.10:g.59062289_59062298del, NC_000008.10:g.59062290_59062298del, NC_000008.10:g.59062291_59062298del, NC_000008.10:g.59062292_59062298del, NC_000008.10:g.59062293_59062298del, NC_000008.10:g.59062294_59062298del, NC_000008.10:g.59062295_59062298del, NC_000008.10:g.59062296_59062298del, NC_000008.10:g.59062297_59062298del, NC_000008.10:g.59062298del, NC_000008.10:g.59062298dup, NC_000008.10:g.59062297_59062298dup, NC_000008.10:g.59062296_59062298dup, NC_000008.10:g.59062295_59062298dup, NC_000008.10:g.59062293_59062298dup, NC_000008.10:g.59062291_59062298dup, NC_000008.10:g.59062281_59062298dup, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062298_59062299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.59062278_59062298A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[30]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[29]T[5]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]T[4]A[22], NC_000008.10:g.59062278_59062298A[28]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[28]T[5]A[23], NC_000008.10:g.59062278_59062298A[28]T[6]A[22], NC_000008.10:g.59062278_59062298A[27]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]TTAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]TTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]A[22], NC_000008.10:g.59062278_59062298A[27]T[4]ACAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[5]A[22], NC_000008.10:g.59062278_59062298A[27]T[5]A[23], NC_000008.10:g.59062278_59062298A[27]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[5]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[6]A[22], NC_000008.10:g.59062278_59062298A[27]T[6]A[23], NC_000008.10:g.59062278_59062298A[27]T[6]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[27]T[8]A[22], NC_000008.10:g.59062278_59062298A[26]TTTAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[4]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[4]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[26]T[5]A[22], NC_000008.10:g.59062278_59062298A[26]T[5]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[25]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[25]T[5]A[22], NC_000008.10:g.59062278_59062298A[22]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.59062278_59062298A[21]CAAAATTTTCAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491538818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAAATTTTTTAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:58149719
(GRCh38)
8:59062279
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58149719:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTTTTTAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency
- MAF:
AAAAAAAAAAAAAAAAAAAAAAAAATTTTTT=0.00011/3
(TOMMO)
- HGVS:
6.
rs1491494422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 8:58148166
(GRCh38)
8:59060725
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58148164:TGT:T
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000008.11:g.58148166_58148167del, NC_000008.10:g.59060725_59060726del, NM_147189.4:c.*823_*824del, NM_147189.3:c.*823_*824del, NM_147189.2:c.*823_*824del, XM_017013948.2:c.*823_*824del, XM_017013948.1:c.*823_*824del, XM_047422400.1:c.*823_*824del, NM_001377989.1:c.*823_*824del, NM_001377997.1:c.*823_*824del, NM_001377998.1:c.*823_*824del
7.
rs1491470293 has merged into rs142262404 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAAGAAA>-,GAAA,GAAAGAAAGAAA
[Show Flanks]
- Chromosome:
- 8:58019374
(GRCh38)
8:58931933
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58019361:GAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAA,NC_000008.11:58019361:GAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAA,NC_000008.11:58019361:GAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAA
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAAAGAAAGAAAGAAA=0.00008/1
(
ALFA)
-=0.11905/70
(NorthernSweden)
-=0.175/7
(GENOME_DK)
- HGVS:
8.
rs1491448340 has merged into rs10586422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 8:58001389
(GRCh38)
8:58913948
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58001375:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000008.11:58001375:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000008.11:58001375:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000008.11:58001375:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.003892/15
(ALSPAC)
-=0.325/13
(GENOME_DK)
-=0.375752/375
(GoNL)
GT=0.40393/740
(Korea1K)
GT=0.468145/2344
(1000Genomes)
-=0.485001/128375
(TOPMED)
- HGVS:
9.
rs1491425244 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:58136003
(GRCh38)
8:59048562
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58136002:CT:
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
11.
rs1491397493 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:58008126
(GRCh38)
8:58920685
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58008125:AT:
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.00011/12
(GnomAD)
- HGVS:
12.
rs1491342111 has merged into rs60027491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:58103013
(GRCh38)
8:59015572
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58103002:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2498/1251
(1000Genomes)
- HGVS:
NC_000008.11:g.58103013_58103024del, NC_000008.11:g.58103015_58103024del, NC_000008.11:g.58103016_58103024del, NC_000008.11:g.58103017_58103024del, NC_000008.11:g.58103018_58103024del, NC_000008.11:g.58103019_58103024del, NC_000008.11:g.58103020_58103024del, NC_000008.11:g.58103021_58103024del, NC_000008.11:g.58103022_58103024del, NC_000008.11:g.58103023_58103024del, NC_000008.11:g.58103024del, NC_000008.11:g.58103024dup, NC_000008.11:g.58103023_58103024dup, NC_000008.11:g.58103022_58103024dup, NC_000008.11:g.58103021_58103024dup, NC_000008.11:g.58103020_58103024dup, NC_000008.11:g.58103015_58103024dup, NC_000008.10:g.59015572_59015583del, NC_000008.10:g.59015574_59015583del, NC_000008.10:g.59015575_59015583del, NC_000008.10:g.59015576_59015583del, NC_000008.10:g.59015577_59015583del, NC_000008.10:g.59015578_59015583del, NC_000008.10:g.59015579_59015583del, NC_000008.10:g.59015580_59015583del, NC_000008.10:g.59015581_59015583del, NC_000008.10:g.59015582_59015583del, NC_000008.10:g.59015583del, NC_000008.10:g.59015583dup, NC_000008.10:g.59015582_59015583dup, NC_000008.10:g.59015581_59015583dup, NC_000008.10:g.59015580_59015583dup, NC_000008.10:g.59015579_59015583dup, NC_000008.10:g.59015574_59015583dup
13.
rs1491324813 has merged into rs61622368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:58019347
(GRCh38)
8:58931906
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:58019336:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.58019347_58019360del, NC_000008.11:g.58019349_58019360del, NC_000008.11:g.58019350_58019360del, NC_000008.11:g.58019351_58019360del, NC_000008.11:g.58019352_58019360del, NC_000008.11:g.58019353_58019360del, NC_000008.11:g.58019354_58019360del, NC_000008.11:g.58019355_58019360del, NC_000008.11:g.58019356_58019360del, NC_000008.11:g.58019357_58019360del, NC_000008.11:g.58019358_58019360del, NC_000008.11:g.58019359_58019360del, NC_000008.11:g.58019360del, NC_000008.11:g.58019360dup, NC_000008.11:g.58019359_58019360dup, NC_000008.11:g.58019358_58019360dup, NC_000008.11:g.58019357_58019360dup, NC_000008.11:g.58019356_58019360dup, NC_000008.11:g.58019355_58019360dup, NC_000008.11:g.58019353_58019360dup, NC_000008.11:g.58019352_58019360dup, NC_000008.11:g.58019349_58019360dup, NC_000008.11:g.58019348_58019360dup, NC_000008.11:g.58019339_58019360dup, NC_000008.11:g.58019360_58019361insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.58019337_58019360A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.58931906_58931919del, NC_000008.10:g.58931908_58931919del, NC_000008.10:g.58931909_58931919del, NC_000008.10:g.58931910_58931919del, NC_000008.10:g.58931911_58931919del, NC_000008.10:g.58931912_58931919del, NC_000008.10:g.58931913_58931919del, NC_000008.10:g.58931914_58931919del, NC_000008.10:g.58931915_58931919del, NC_000008.10:g.58931916_58931919del, NC_000008.10:g.58931917_58931919del, NC_000008.10:g.58931918_58931919del, NC_000008.10:g.58931919del, NC_000008.10:g.58931919dup, NC_000008.10:g.58931918_58931919dup, NC_000008.10:g.58931917_58931919dup, NC_000008.10:g.58931916_58931919dup, NC_000008.10:g.58931915_58931919dup, NC_000008.10:g.58931914_58931919dup, NC_000008.10:g.58931912_58931919dup, NC_000008.10:g.58931911_58931919dup, NC_000008.10:g.58931908_58931919dup, NC_000008.10:g.58931907_58931919dup, NC_000008.10:g.58931898_58931919dup, NC_000008.10:g.58931919_58931920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.58931896_58931919A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
14.
rs1491315809 has merged into rs71248160 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:58008139
(GRCh38)
8:58920698
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58008126:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000008.11:g.58008139_58008149del, NC_000008.11:g.58008140_58008149del, NC_000008.11:g.58008142_58008149del, NC_000008.11:g.58008143_58008149del, NC_000008.11:g.58008144_58008149del, NC_000008.11:g.58008145_58008149del, NC_000008.11:g.58008147_58008149del, NC_000008.11:g.58008148_58008149del, NC_000008.11:g.58008149del, NC_000008.11:g.58008149dup, NC_000008.11:g.58008148_58008149dup, NC_000008.11:g.58008147_58008149dup, NC_000008.11:g.58008146_58008149dup, NC_000008.11:g.58008145_58008149dup, NC_000008.11:g.58008142_58008149dup, NC_000008.11:g.58008129_58008149dup, NC_000008.10:g.58920698_58920708del, NC_000008.10:g.58920699_58920708del, NC_000008.10:g.58920701_58920708del, NC_000008.10:g.58920702_58920708del, NC_000008.10:g.58920703_58920708del, NC_000008.10:g.58920704_58920708del, NC_000008.10:g.58920706_58920708del, NC_000008.10:g.58920707_58920708del, NC_000008.10:g.58920708del, NC_000008.10:g.58920708dup, NC_000008.10:g.58920707_58920708dup, NC_000008.10:g.58920706_58920708dup, NC_000008.10:g.58920705_58920708dup, NC_000008.10:g.58920704_58920708dup, NC_000008.10:g.58920701_58920708dup, NC_000008.10:g.58920688_58920708dup
15.
rs1491246224 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 8:58103002
(GRCh38)
8:59015561
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58103001:GA:
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
16.
rs1491196150 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 8:58031089
(GRCh38)
8:58943649
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58031089:TGTGT:TGTGTGT
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
- HGVS:
19.
rs1491165466 has merged into rs60228265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:58040948
(GRCh38)
8:58953507
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:58040935:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.259/1297
(1000Genomes)
- HGVS:
NC_000008.11:g.58040948_58040958del, NC_000008.11:g.58040949_58040958del, NC_000008.11:g.58040951_58040958del, NC_000008.11:g.58040952_58040958del, NC_000008.11:g.58040953_58040958del, NC_000008.11:g.58040954_58040958del, NC_000008.11:g.58040955_58040958del, NC_000008.11:g.58040956_58040958del, NC_000008.11:g.58040957_58040958del, NC_000008.11:g.58040958del, NC_000008.11:g.58040958dup, NC_000008.11:g.58040957_58040958dup, NC_000008.11:g.58040956_58040958dup, NC_000008.11:g.58040955_58040958dup, NC_000008.11:g.58040954_58040958dup, NC_000008.11:g.58040953_58040958dup, NC_000008.11:g.58040952_58040958dup, NC_000008.11:g.58040951_58040958dup, NC_000008.11:g.58040950_58040958dup, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.58040958_58040959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953507_58953517del, NC_000008.10:g.58953508_58953517del, NC_000008.10:g.58953510_58953517del, NC_000008.10:g.58953511_58953517del, NC_000008.10:g.58953512_58953517del, NC_000008.10:g.58953513_58953517del, NC_000008.10:g.58953514_58953517del, NC_000008.10:g.58953515_58953517del, NC_000008.10:g.58953516_58953517del, NC_000008.10:g.58953517del, NC_000008.10:g.58953517dup, NC_000008.10:g.58953516_58953517dup, NC_000008.10:g.58953515_58953517dup, NC_000008.10:g.58953514_58953517dup, NC_000008.10:g.58953513_58953517dup, NC_000008.10:g.58953512_58953517dup, NC_000008.10:g.58953511_58953517dup, NC_000008.10:g.58953510_58953517dup, NC_000008.10:g.58953509_58953517dup, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.58953517_58953518insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1491132429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:58148165
(GRCh38)
8:59060725
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58148165:G:GG
- Gene:
- FAM110B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000055/6
(GnomAD)
- HGVS:
NC_000008.11:g.58148166dup, NC_000008.10:g.59060725dup, NM_147189.4:c.*823dup, NM_147189.3:c.*823dup, NM_147189.2:c.*823dup, XM_017013948.2:c.*823dup, XM_017013948.1:c.*823dup, XM_047422400.1:c.*823dup, NM_001377989.1:c.*823dup, NM_001377997.1:c.*823dup, NM_001377998.1:c.*823dup