Links from Gene
Items: 1 to 20 of 2397
1.
rs1491542088 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:12397713
(GRCh38)
8:12255223
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397713::C
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.01875/3
(GnomAD)
- HGVS:
2.
rs1491445450 has merged into rs142981919 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:12397720
(GRCh38)
8:12255229
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:12397712:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(ALSPAC)
-=0./0
(TWINSUK)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000008.11:g.12397720_12397726del, NC_000008.11:g.12397724_12397726del, NC_000008.11:g.12397725_12397726del, NC_000008.11:g.12397726del, NC_000008.11:g.12397726dup, NC_000008.11:g.12397725_12397726dup, NC_000008.11:g.12397724_12397726dup, NC_000008.11:g.12397722_12397726dup, NC_000008.10:g.12255229_12255235del, NC_000008.10:g.12255233_12255235del, NC_000008.10:g.12255234_12255235del, NC_000008.10:g.12255235del, NC_000008.10:g.12255235dup, NC_000008.10:g.12255234_12255235dup, NC_000008.10:g.12255233_12255235dup, NC_000008.10:g.12255231_12255235dup
3.
rs1491444553 has merged into rs58242926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTCTCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:12393914
(GRCh38)
8:12251423
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:12393904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.2353/8
(GENOME_DK)
- HGVS:
NC_000008.11:g.12393914_12393926del, NC_000008.11:g.12393915_12393926del, NC_000008.11:g.12393916_12393926del, NC_000008.11:g.12393917_12393926del, NC_000008.11:g.12393918_12393926del, NC_000008.11:g.12393919_12393926del, NC_000008.11:g.12393920_12393926del, NC_000008.11:g.12393921_12393926del, NC_000008.11:g.12393922_12393926del, NC_000008.11:g.12393923_12393926del, NC_000008.11:g.12393924_12393926del, NC_000008.11:g.12393925_12393926del, NC_000008.11:g.12393926del, NC_000008.11:g.12393926dup, NC_000008.11:g.12393925_12393926dup, NC_000008.11:g.12393924_12393926dup, NC_000008.11:g.12393923_12393926dup, NC_000008.11:g.12393922_12393926dup, NC_000008.11:g.12393921_12393926dup, NC_000008.11:g.12393920_12393926dup, NC_000008.11:g.12393905_12393926T[29]CATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[29]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393919_12393926dup, NC_000008.11:g.12393905_12393926T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393918_12393926dup, NC_000008.11:g.12393905_12393926T[31]CTTTCTCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[31]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393905_12393926T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393917_12393926dup, NC_000008.11:g.12393916_12393926dup, NC_000008.11:g.12393915_12393926dup, NC_000008.11:g.12393914_12393926dup, NC_000008.11:g.12393913_12393926dup, NC_000008.11:g.12393912_12393926dup, NC_000008.11:g.12393911_12393926dup, NC_000008.11:g.12393910_12393926dup, NC_000008.11:g.12393909_12393926dup, NC_000008.11:g.12393905_12393926T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.12393908_12393926dup, NC_000008.11:g.12393907_12393926dup, NC_000008.11:g.12393906_12393926dup, NC_000008.11:g.12393905_12393926dup, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.12393926_12393927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251423_12251435del, NC_000008.10:g.12251424_12251435del, NC_000008.10:g.12251425_12251435del, NC_000008.10:g.12251426_12251435del, NC_000008.10:g.12251427_12251435del, NC_000008.10:g.12251428_12251435del, NC_000008.10:g.12251429_12251435del, NC_000008.10:g.12251430_12251435del, NC_000008.10:g.12251431_12251435del, NC_000008.10:g.12251432_12251435del, NC_000008.10:g.12251433_12251435del, NC_000008.10:g.12251434_12251435del, NC_000008.10:g.12251435del, NC_000008.10:g.12251435dup, NC_000008.10:g.12251434_12251435dup, NC_000008.10:g.12251433_12251435dup, NC_000008.10:g.12251432_12251435dup, NC_000008.10:g.12251431_12251435dup, NC_000008.10:g.12251430_12251435dup, NC_000008.10:g.12251429_12251435dup, NC_000008.10:g.12251414_12251435T[29]CATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[29]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251428_12251435dup, NC_000008.10:g.12251414_12251435T[30]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251427_12251435dup, NC_000008.10:g.12251414_12251435T[31]CTTTCTCTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[31]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251414_12251435T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251426_12251435dup, NC_000008.10:g.12251425_12251435dup, NC_000008.10:g.12251424_12251435dup, NC_000008.10:g.12251423_12251435dup, NC_000008.10:g.12251422_12251435dup, NC_000008.10:g.12251421_12251435dup, NC_000008.10:g.12251420_12251435dup, NC_000008.10:g.12251419_12251435dup, NC_000008.10:g.12251418_12251435dup, NC_000008.10:g.12251414_12251435T[40]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.12251417_12251435dup, NC_000008.10:g.12251416_12251435dup, NC_000008.10:g.12251415_12251435dup, NC_000008.10:g.12251414_12251435dup, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.12251435_12251436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491354716 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ATC,C
[Show Flanks]
- Chromosome:
- 8:12393905
(GRCh38)
8:12251415
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12393905::ATC,NC_000008.11:12393905::C
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00014/3
(TOMMO)
- HGVS:
5.
rs1491344807 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CA
[Show Flanks]
- Chromosome:
- 8:12397628
(GRCh38)
8:12255138
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397628::C,NC_000008.11:12397628::CA
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
C=0.00004/0
(TOMMO)
- HGVS:
6.
rs1491218306 has merged into rs373130099 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTTT
[Show Flanks]
- Chromosome:
- 8:12397625
(GRCh38)
8:12255134
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397623:TTT:T,NC_000008.11:12397623:TTT:TT,NC_000008.11:12397623:TTT:TTTTT
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.02352/279
(
ALFA)
-=0.00043/7
(TOMMO)
-=0.00117/2
(Korea1K)
-=0.01726/64
(TWINSUK)
-=0.01979/1429
(GnomAD)
-=0.02231/86
(ALSPAC)
-=0.025/1
(GENOME_DK)
-=0.03846/21
(NorthernSweden)
- HGVS:
7.
rs1491203294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 8:12397629
(GRCh38)
8:12255138
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397627:TTT:T
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
8.
rs1490846163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 8:12400320
(GRCh38)
8:12257829
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12400319:G:C,NC_000008.11:12400319:G:T
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00004/2
(GnomAD)
T=0.00351/97
(TOMMO)
T=0.01792/52
(KOREAN)
- HGVS:
9.
rs1490280228 has merged into rs1554507411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTCT>-,CTTTCTCTTTCT
[Show Flanks]
- Chromosome:
- 8:12397639
(GRCh38)
8:12255148
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12397625:TCTTTCTCTTTCTCTTTCT:TCTTTCTCTTTCT,NC_000008.11:12397625:TCTTTCTCTTTCTCTTTCT:TCTTTCTCTTTCTCTTTCTCTTTCT
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTTCTCTTTCTCTTTCTCTTTCT=0./0
(
ALFA)
- HGVS:
10.
rs1489756635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:12394070
(GRCh38)
8:12251579
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12394069:A:G
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00008/1
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
11.
rs1489686321 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TACT>-
[Show Flanks]
- Chromosome:
- 8:12402188
(GRCh38)
8:12259697
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12402184:ACTTACT:ACT
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
13.
rs1489276421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:12402136
(GRCh38)
8:12259645
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12402135:T:C
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
14.
rs1489159070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 8:12395812
(GRCh38)
8:12253321
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12395811:T:A,NC_000008.11:12395811:T:G
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000009/1
(GnomAD)
A=0.000036/1
(TOMMO)
- HGVS:
16.
rs1489049479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:12393433
(GRCh38)
8:12250942
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12393432:A:G
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
18.
rs1488878043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:12401963
(GRCh38)
8:12259472
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12401962:A:G
- Gene:
- DEFB109A (Varview), FAM66A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000022/3
(GnomAD)
- HGVS: