Links from Gene
Items: 1 to 20 of 1000
2.
rs1491348229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:117826035
(GRCh38)
2:118583612
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117826035:TTTTTTTT:TTTTTTTTCTTTTTTTT
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTCTTTTTTTT=0./0
(
ALFA)
TTTTTTTTC=0.000004/1
(TOPMED)
TTTTTTTTC=0.000249/3
(GnomAD)
- HGVS:
3.
rs1491280847 has merged into rs59119058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:117826044
(GRCh38)
2:118583620
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.117826044_117826062del, NC_000002.12:g.117826045_117826062del, NC_000002.12:g.117826046_117826062del, NC_000002.12:g.117826047_117826062del, NC_000002.12:g.117826048_117826062del, NC_000002.12:g.117826049_117826062del, NC_000002.12:g.117826050_117826062del, NC_000002.12:g.117826051_117826062del, NC_000002.12:g.117826052_117826062del, NC_000002.12:g.117826053_117826062del, NC_000002.12:g.117826054_117826062del, NC_000002.12:g.117826055_117826062del, NC_000002.12:g.117826056_117826062del, NC_000002.12:g.117826057_117826062del, NC_000002.12:g.117826058_117826062del, NC_000002.12:g.117826059_117826062del, NC_000002.12:g.117826060_117826062del, NC_000002.12:g.117826061_117826062del, NC_000002.12:g.117826062del, NC_000002.12:g.117826062dup, NC_000002.12:g.117826061_117826062dup, NC_000002.12:g.117826060_117826062dup, NC_000002.12:g.117826059_117826062dup, NC_000002.12:g.117826058_117826062dup, NC_000002.12:g.117826057_117826062dup, NC_000002.12:g.117826056_117826062dup, NC_000002.12:g.117826055_117826062dup, NC_000002.12:g.117826054_117826062dup, NC_000002.12:g.117826053_117826062dup, NC_000002.12:g.117826052_117826062dup, NC_000002.12:g.117826051_117826062dup, NC_000002.12:g.117826050_117826062dup, NC_000002.12:g.117826049_117826062dup, NC_000002.12:g.117826048_117826062dup, NC_000002.12:g.117826047_117826062dup, NC_000002.12:g.117826046_117826062dup, NC_000002.12:g.117826045_117826062dup, NC_000002.12:g.117826044_117826062dup, NC_000002.12:g.117826043_117826062dup, NC_000002.12:g.117826042_117826062dup, NC_000002.12:g.117826062_117826063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.117826062_117826063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.118583620_118583638del, NC_000002.11:g.118583621_118583638del, NC_000002.11:g.118583622_118583638del, NC_000002.11:g.118583623_118583638del, NC_000002.11:g.118583624_118583638del, NC_000002.11:g.118583625_118583638del, NC_000002.11:g.118583626_118583638del, NC_000002.11:g.118583627_118583638del, NC_000002.11:g.118583628_118583638del, NC_000002.11:g.118583629_118583638del, NC_000002.11:g.118583630_118583638del, NC_000002.11:g.118583631_118583638del, NC_000002.11:g.118583632_118583638del, NC_000002.11:g.118583633_118583638del, NC_000002.11:g.118583634_118583638del, NC_000002.11:g.118583635_118583638del, NC_000002.11:g.118583636_118583638del, NC_000002.11:g.118583637_118583638del, NC_000002.11:g.118583638del, NC_000002.11:g.118583638dup, NC_000002.11:g.118583637_118583638dup, NC_000002.11:g.118583636_118583638dup, NC_000002.11:g.118583635_118583638dup, NC_000002.11:g.118583634_118583638dup, NC_000002.11:g.118583633_118583638dup, NC_000002.11:g.118583632_118583638dup, NC_000002.11:g.118583631_118583638dup, NC_000002.11:g.118583630_118583638dup, NC_000002.11:g.118583629_118583638dup, NC_000002.11:g.118583628_118583638dup, NC_000002.11:g.118583627_118583638dup, NC_000002.11:g.118583626_118583638dup, NC_000002.11:g.118583625_118583638dup, NC_000002.11:g.118583624_118583638dup, NC_000002.11:g.118583623_118583638dup, NC_000002.11:g.118583622_118583638dup, NC_000002.11:g.118583621_118583638dup, NC_000002.11:g.118583620_118583638dup, NC_000002.11:g.118583619_118583638dup, NC_000002.11:g.118583618_118583638dup, NC_000002.11:g.118583638_118583639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.118583638_118583639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491115611 has merged into rs59119058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:117826044
(GRCh38)
2:118583620
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:117826034:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.117826044_117826062del, NC_000002.12:g.117826045_117826062del, NC_000002.12:g.117826046_117826062del, NC_000002.12:g.117826047_117826062del, NC_000002.12:g.117826048_117826062del, NC_000002.12:g.117826049_117826062del, NC_000002.12:g.117826050_117826062del, NC_000002.12:g.117826051_117826062del, NC_000002.12:g.117826052_117826062del, NC_000002.12:g.117826053_117826062del, NC_000002.12:g.117826054_117826062del, NC_000002.12:g.117826055_117826062del, NC_000002.12:g.117826056_117826062del, NC_000002.12:g.117826057_117826062del, NC_000002.12:g.117826058_117826062del, NC_000002.12:g.117826059_117826062del, NC_000002.12:g.117826060_117826062del, NC_000002.12:g.117826061_117826062del, NC_000002.12:g.117826062del, NC_000002.12:g.117826062dup, NC_000002.12:g.117826061_117826062dup, NC_000002.12:g.117826060_117826062dup, NC_000002.12:g.117826059_117826062dup, NC_000002.12:g.117826058_117826062dup, NC_000002.12:g.117826057_117826062dup, NC_000002.12:g.117826056_117826062dup, NC_000002.12:g.117826055_117826062dup, NC_000002.12:g.117826054_117826062dup, NC_000002.12:g.117826053_117826062dup, NC_000002.12:g.117826052_117826062dup, NC_000002.12:g.117826051_117826062dup, NC_000002.12:g.117826050_117826062dup, NC_000002.12:g.117826049_117826062dup, NC_000002.12:g.117826048_117826062dup, NC_000002.12:g.117826047_117826062dup, NC_000002.12:g.117826046_117826062dup, NC_000002.12:g.117826045_117826062dup, NC_000002.12:g.117826044_117826062dup, NC_000002.12:g.117826043_117826062dup, NC_000002.12:g.117826042_117826062dup, NC_000002.12:g.117826062_117826063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.117826062_117826063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.118583620_118583638del, NC_000002.11:g.118583621_118583638del, NC_000002.11:g.118583622_118583638del, NC_000002.11:g.118583623_118583638del, NC_000002.11:g.118583624_118583638del, NC_000002.11:g.118583625_118583638del, NC_000002.11:g.118583626_118583638del, NC_000002.11:g.118583627_118583638del, NC_000002.11:g.118583628_118583638del, NC_000002.11:g.118583629_118583638del, NC_000002.11:g.118583630_118583638del, NC_000002.11:g.118583631_118583638del, NC_000002.11:g.118583632_118583638del, NC_000002.11:g.118583633_118583638del, NC_000002.11:g.118583634_118583638del, NC_000002.11:g.118583635_118583638del, NC_000002.11:g.118583636_118583638del, NC_000002.11:g.118583637_118583638del, NC_000002.11:g.118583638del, NC_000002.11:g.118583638dup, NC_000002.11:g.118583637_118583638dup, NC_000002.11:g.118583636_118583638dup, NC_000002.11:g.118583635_118583638dup, NC_000002.11:g.118583634_118583638dup, NC_000002.11:g.118583633_118583638dup, NC_000002.11:g.118583632_118583638dup, NC_000002.11:g.118583631_118583638dup, NC_000002.11:g.118583630_118583638dup, NC_000002.11:g.118583629_118583638dup, NC_000002.11:g.118583628_118583638dup, NC_000002.11:g.118583627_118583638dup, NC_000002.11:g.118583626_118583638dup, NC_000002.11:g.118583625_118583638dup, NC_000002.11:g.118583624_118583638dup, NC_000002.11:g.118583623_118583638dup, NC_000002.11:g.118583622_118583638dup, NC_000002.11:g.118583621_118583638dup, NC_000002.11:g.118583620_118583638dup, NC_000002.11:g.118583619_118583638dup, NC_000002.11:g.118583618_118583638dup, NC_000002.11:g.118583638_118583639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.118583638_118583639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491090189 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 2:117826062
(GRCh38)
2:118583638
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117826061:TG:
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.001265/15
(
ALFA)
-=0.000373/40
(GnomAD)
- HGVS:
6.
rs1490973358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:117830452
(GRCh38)
2:118588028
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117830451:C:A,NC_000002.12:117830451:C:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490683904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:117820878
(GRCh38)
2:118578454
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117820877:G:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490621743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:117828097
(GRCh38)
2:118585673
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117828096:A:C
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490131661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:117827666
(GRCh38)
2:118585242
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117827665:C:G,NC_000002.12:117827665:C:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490123133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:117824728
(GRCh38)
2:118582304
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117824727:G:A
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1490033657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:117814673
(GRCh38)
2:118572249
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117814672:C:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1489989413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:117832478
(GRCh38)
2:118590054
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117832477:T:A
- Gene:
- DDX18 (Varview), LOC107985939 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489717622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:117820934
(GRCh38)
2:118578510
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117820933:G:A
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489634554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:117823083
(GRCh38)
2:118580659
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117823082:C:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1489204068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAT>-
[Show Flanks]
- Chromosome:
- 2:117816263
(GRCh38)
2:118573839
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117816261:TAAAT:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488784088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:117823989
(GRCh38)
2:118581565
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117823988:T:A,NC_000002.12:117823988:T:C
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000057/15
(TOPMED)
- HGVS:
20.
rs1488142924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:117821694
(GRCh38)
2:118579270
(GRCh37)
- Canonical SPDI:
- NC_000002.12:117821693:C:T
- Gene:
- DDX18 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(GnomAD_exomes)
- HGVS: