Links from Gene
Items: 1 to 20 of 1000
2.
rs1491509507 has merged into rs59396679 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:26364087
(GRCh38)
2:26586955
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26364078:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000002.12:g.26364087_26364099del, NC_000002.12:g.26364088_26364099del, NC_000002.12:g.26364089_26364099del, NC_000002.12:g.26364090_26364099del, NC_000002.12:g.26364092_26364099del, NC_000002.12:g.26364093_26364099del, NC_000002.12:g.26364094_26364099del, NC_000002.12:g.26364095_26364099del, NC_000002.12:g.26364096_26364099del, NC_000002.12:g.26364097_26364099del, NC_000002.12:g.26364098_26364099del, NC_000002.12:g.26364099del, NC_000002.12:g.26364099dup, NC_000002.12:g.26364098_26364099dup, NC_000002.12:g.26364097_26364099dup, NC_000002.12:g.26364096_26364099dup, NC_000002.12:g.26364095_26364099dup, NC_000002.12:g.26364094_26364099dup, NC_000002.11:g.26586955_26586967del, NC_000002.11:g.26586956_26586967del, NC_000002.11:g.26586957_26586967del, NC_000002.11:g.26586958_26586967del, NC_000002.11:g.26586960_26586967del, NC_000002.11:g.26586961_26586967del, NC_000002.11:g.26586962_26586967del, NC_000002.11:g.26586963_26586967del, NC_000002.11:g.26586964_26586967del, NC_000002.11:g.26586965_26586967del, NC_000002.11:g.26586966_26586967del, NC_000002.11:g.26586967del, NC_000002.11:g.26586967dup, NC_000002.11:g.26586966_26586967dup, NC_000002.11:g.26586965_26586967dup, NC_000002.11:g.26586964_26586967dup, NC_000002.11:g.26586963_26586967dup, NC_000002.11:g.26586962_26586967dup
3.
rs1491416494 has merged into rs60220320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:26387704
(GRCh38)
2:26610572
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26387695:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.26387704_26387713del, NC_000002.12:g.26387708_26387713del, NC_000002.12:g.26387709_26387713del, NC_000002.12:g.26387710_26387713del, NC_000002.12:g.26387711_26387713del, NC_000002.12:g.26387712_26387713del, NC_000002.12:g.26387713del, NC_000002.12:g.26387713dup, NC_000002.12:g.26387709_26387713dup, NC_000002.12:g.26387703_26387713dup, NC_000002.12:g.26387697_26387713dup, NC_000002.11:g.26610572_26610581del, NC_000002.11:g.26610576_26610581del, NC_000002.11:g.26610577_26610581del, NC_000002.11:g.26610578_26610581del, NC_000002.11:g.26610579_26610581del, NC_000002.11:g.26610580_26610581del, NC_000002.11:g.26610581del, NC_000002.11:g.26610581dup, NC_000002.11:g.26610577_26610581dup, NC_000002.11:g.26610571_26610581dup, NC_000002.11:g.26610565_26610581dup
4.
rs1491392954 has merged into rs869073468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:26349006
(GRCh38)
2:26571874
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.26349006_26349031del, NC_000002.12:g.26349007_26349031del, NC_000002.12:g.26349008_26349031del, NC_000002.12:g.26349009_26349031del, NC_000002.12:g.26349010_26349031del, NC_000002.12:g.26349011_26349031del, NC_000002.12:g.26349012_26349031del, NC_000002.12:g.26349013_26349031del, NC_000002.12:g.26349014_26349031del, NC_000002.12:g.26349015_26349031del, NC_000002.12:g.26349016_26349031del, NC_000002.12:g.26349017_26349031del, NC_000002.12:g.26349018_26349031del, NC_000002.12:g.26349019_26349031del, NC_000002.12:g.26349020_26349031del, NC_000002.12:g.26349021_26349031del, NC_000002.12:g.26349022_26349031del, NC_000002.12:g.26349023_26349031del, NC_000002.12:g.26349024_26349031del, NC_000002.12:g.26349025_26349031del, NC_000002.12:g.26349026_26349031del, NC_000002.12:g.26349027_26349031del, NC_000002.12:g.26349028_26349031del, NC_000002.12:g.26349029_26349031del, NC_000002.12:g.26349030_26349031del, NC_000002.12:g.26349031del, NC_000002.12:g.26349031dup, NC_000002.12:g.26349030_26349031dup, NC_000002.12:g.26349029_26349031dup, NC_000002.12:g.26349028_26349031dup, NC_000002.12:g.26349027_26349031dup, NC_000002.12:g.26349026_26349031dup, NC_000002.12:g.26349025_26349031dup, NC_000002.12:g.26349024_26349031dup, NC_000002.12:g.26349023_26349031dup, NC_000002.12:g.26349022_26349031dup, NC_000002.12:g.26349021_26349031dup, NC_000002.12:g.26349020_26349031dup, NC_000002.12:g.26349019_26349031dup, NC_000002.12:g.26349018_26349031dup, NC_000002.12:g.26349017_26349031dup, NC_000002.12:g.26349016_26349031dup, NC_000002.12:g.26349015_26349031dup, NC_000002.12:g.26349014_26349031dup, NC_000002.12:g.26349012_26349031dup, NC_000002.12:g.26349011_26349031dup, NC_000002.12:g.26349009_26349031dup, NC_000002.12:g.26349005_26349031dup, NC_000002.12:g.26349004_26349031dup, NC_000002.12:g.26349031_26349032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26571874_26571899del, NC_000002.11:g.26571875_26571899del, NC_000002.11:g.26571876_26571899del, NC_000002.11:g.26571877_26571899del, NC_000002.11:g.26571878_26571899del, NC_000002.11:g.26571879_26571899del, NC_000002.11:g.26571880_26571899del, NC_000002.11:g.26571881_26571899del, NC_000002.11:g.26571882_26571899del, NC_000002.11:g.26571883_26571899del, NC_000002.11:g.26571884_26571899del, NC_000002.11:g.26571885_26571899del, NC_000002.11:g.26571886_26571899del, NC_000002.11:g.26571887_26571899del, NC_000002.11:g.26571888_26571899del, NC_000002.11:g.26571889_26571899del, NC_000002.11:g.26571890_26571899del, NC_000002.11:g.26571891_26571899del, NC_000002.11:g.26571892_26571899del, NC_000002.11:g.26571893_26571899del, NC_000002.11:g.26571894_26571899del, NC_000002.11:g.26571895_26571899del, NC_000002.11:g.26571896_26571899del, NC_000002.11:g.26571897_26571899del, NC_000002.11:g.26571898_26571899del, NC_000002.11:g.26571899del, NC_000002.11:g.26571899dup, NC_000002.11:g.26571898_26571899dup, NC_000002.11:g.26571897_26571899dup, NC_000002.11:g.26571896_26571899dup, NC_000002.11:g.26571895_26571899dup, NC_000002.11:g.26571894_26571899dup, NC_000002.11:g.26571893_26571899dup, NC_000002.11:g.26571892_26571899dup, NC_000002.11:g.26571891_26571899dup, NC_000002.11:g.26571890_26571899dup, NC_000002.11:g.26571889_26571899dup, NC_000002.11:g.26571888_26571899dup, NC_000002.11:g.26571887_26571899dup, NC_000002.11:g.26571886_26571899dup, NC_000002.11:g.26571885_26571899dup, NC_000002.11:g.26571884_26571899dup, NC_000002.11:g.26571883_26571899dup, NC_000002.11:g.26571882_26571899dup, NC_000002.11:g.26571880_26571899dup, NC_000002.11:g.26571879_26571899dup, NC_000002.11:g.26571877_26571899dup, NC_000002.11:g.26571873_26571899dup, NC_000002.11:g.26571872_26571899dup, NC_000002.11:g.26571899_26571900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491139964 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:26364078
(GRCh38)
2:26586946
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26364077:CT:
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
7.
rs1491035631 has merged into rs35795789 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:26352857
(GRCh38)
2:26575725
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26352843:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3099/1552
(1000Genomes)
- HGVS:
NC_000002.12:g.26352857_26352859del, NC_000002.12:g.26352858_26352859del, NC_000002.12:g.26352859del, NC_000002.12:g.26352859dup, NC_000002.12:g.26352858_26352859dup, NC_000002.12:g.26352857_26352859dup, NC_000002.12:g.26352856_26352859dup, NC_000002.12:g.26352855_26352859dup, NC_000002.12:g.26352853_26352859dup, NC_000002.11:g.26575725_26575727del, NC_000002.11:g.26575726_26575727del, NC_000002.11:g.26575727del, NC_000002.11:g.26575727dup, NC_000002.11:g.26575726_26575727dup, NC_000002.11:g.26575725_26575727dup, NC_000002.11:g.26575724_26575727dup, NC_000002.11:g.26575723_26575727dup, NC_000002.11:g.26575721_26575727dup
8.
rs1491025498 has merged into rs147570982 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC
[Show Flanks]
- Chromosome:
- 2:26356968
(GRCh38)
2:26579836
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26356956:CACACACACACACAC:CACACACACAC,NC_000002.12:26356956:CACACACACACACAC:CACACACACACAC,NC_000002.12:26356956:CACACACACACACAC:CACACACACACACACAC,NC_000002.12:26356956:CACACACACACACAC:CACACACACACACACACAC,NC_000002.12:26356956:CACACACACACACAC:CACACACACACACACACACAC
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACAC=0./0
(
ALFA)
CA=0.03095/155
(1000Genomes)
CA=0.03944/661
(TOMMO)
CA=0.04803/88
(Korea1K)
CA=0.09346/20
(Vietnamese)
- HGVS:
9.
rs1491004995 has merged into rs57146815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:26376101
(GRCh38)
2:26598969
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26376091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000002.12:g.26376101_26376109del, NC_000002.12:g.26376105_26376109del, NC_000002.12:g.26376106_26376109del, NC_000002.12:g.26376107_26376109del, NC_000002.12:g.26376108_26376109del, NC_000002.12:g.26376109del, NC_000002.12:g.26376109dup, NC_000002.12:g.26376108_26376109dup, NC_000002.12:g.26376107_26376109dup, NC_000002.12:g.26376106_26376109dup, NC_000002.11:g.26598969_26598977del, NC_000002.11:g.26598973_26598977del, NC_000002.11:g.26598974_26598977del, NC_000002.11:g.26598975_26598977del, NC_000002.11:g.26598976_26598977del, NC_000002.11:g.26598977del, NC_000002.11:g.26598977dup, NC_000002.11:g.26598976_26598977dup, NC_000002.11:g.26598975_26598977dup, NC_000002.11:g.26598974_26598977dup
10.
rs1491003810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:26388896
(GRCh38)
2:26611764
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26388895:G:T
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
11.
rs1490947323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:26392250
(GRCh38)
2:26615118
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26392249:A:T
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490944461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 2:26354496
(GRCh38)
2:26577364
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26354493:CTCCT:CT
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.00005/7
(GnomAD)
- HGVS:
13.
rs1490798463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:26386474
(GRCh38)
2:26609342
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26386473:A:G
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1490783537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 2:26365681
(GRCh38)
2:26588550
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26365681:TATA:TATATA
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
TA=0.000008/2
(TOPMED)
TA=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490690904 has merged into rs869073468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:26349006
(GRCh38)
2:26571874
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26348996:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.26349006_26349031del, NC_000002.12:g.26349007_26349031del, NC_000002.12:g.26349008_26349031del, NC_000002.12:g.26349009_26349031del, NC_000002.12:g.26349010_26349031del, NC_000002.12:g.26349011_26349031del, NC_000002.12:g.26349012_26349031del, NC_000002.12:g.26349013_26349031del, NC_000002.12:g.26349014_26349031del, NC_000002.12:g.26349015_26349031del, NC_000002.12:g.26349016_26349031del, NC_000002.12:g.26349017_26349031del, NC_000002.12:g.26349018_26349031del, NC_000002.12:g.26349019_26349031del, NC_000002.12:g.26349020_26349031del, NC_000002.12:g.26349021_26349031del, NC_000002.12:g.26349022_26349031del, NC_000002.12:g.26349023_26349031del, NC_000002.12:g.26349024_26349031del, NC_000002.12:g.26349025_26349031del, NC_000002.12:g.26349026_26349031del, NC_000002.12:g.26349027_26349031del, NC_000002.12:g.26349028_26349031del, NC_000002.12:g.26349029_26349031del, NC_000002.12:g.26349030_26349031del, NC_000002.12:g.26349031del, NC_000002.12:g.26349031dup, NC_000002.12:g.26349030_26349031dup, NC_000002.12:g.26349029_26349031dup, NC_000002.12:g.26349028_26349031dup, NC_000002.12:g.26349027_26349031dup, NC_000002.12:g.26349026_26349031dup, NC_000002.12:g.26349025_26349031dup, NC_000002.12:g.26349024_26349031dup, NC_000002.12:g.26349023_26349031dup, NC_000002.12:g.26349022_26349031dup, NC_000002.12:g.26349021_26349031dup, NC_000002.12:g.26349020_26349031dup, NC_000002.12:g.26349019_26349031dup, NC_000002.12:g.26349018_26349031dup, NC_000002.12:g.26349017_26349031dup, NC_000002.12:g.26349016_26349031dup, NC_000002.12:g.26349015_26349031dup, NC_000002.12:g.26349014_26349031dup, NC_000002.12:g.26349012_26349031dup, NC_000002.12:g.26349011_26349031dup, NC_000002.12:g.26349009_26349031dup, NC_000002.12:g.26349005_26349031dup, NC_000002.12:g.26349004_26349031dup, NC_000002.12:g.26349031_26349032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26571874_26571899del, NC_000002.11:g.26571875_26571899del, NC_000002.11:g.26571876_26571899del, NC_000002.11:g.26571877_26571899del, NC_000002.11:g.26571878_26571899del, NC_000002.11:g.26571879_26571899del, NC_000002.11:g.26571880_26571899del, NC_000002.11:g.26571881_26571899del, NC_000002.11:g.26571882_26571899del, NC_000002.11:g.26571883_26571899del, NC_000002.11:g.26571884_26571899del, NC_000002.11:g.26571885_26571899del, NC_000002.11:g.26571886_26571899del, NC_000002.11:g.26571887_26571899del, NC_000002.11:g.26571888_26571899del, NC_000002.11:g.26571889_26571899del, NC_000002.11:g.26571890_26571899del, NC_000002.11:g.26571891_26571899del, NC_000002.11:g.26571892_26571899del, NC_000002.11:g.26571893_26571899del, NC_000002.11:g.26571894_26571899del, NC_000002.11:g.26571895_26571899del, NC_000002.11:g.26571896_26571899del, NC_000002.11:g.26571897_26571899del, NC_000002.11:g.26571898_26571899del, NC_000002.11:g.26571899del, NC_000002.11:g.26571899dup, NC_000002.11:g.26571898_26571899dup, NC_000002.11:g.26571897_26571899dup, NC_000002.11:g.26571896_26571899dup, NC_000002.11:g.26571895_26571899dup, NC_000002.11:g.26571894_26571899dup, NC_000002.11:g.26571893_26571899dup, NC_000002.11:g.26571892_26571899dup, NC_000002.11:g.26571891_26571899dup, NC_000002.11:g.26571890_26571899dup, NC_000002.11:g.26571889_26571899dup, NC_000002.11:g.26571888_26571899dup, NC_000002.11:g.26571887_26571899dup, NC_000002.11:g.26571886_26571899dup, NC_000002.11:g.26571885_26571899dup, NC_000002.11:g.26571884_26571899dup, NC_000002.11:g.26571883_26571899dup, NC_000002.11:g.26571882_26571899dup, NC_000002.11:g.26571880_26571899dup, NC_000002.11:g.26571879_26571899dup, NC_000002.11:g.26571877_26571899dup, NC_000002.11:g.26571873_26571899dup, NC_000002.11:g.26571872_26571899dup, NC_000002.11:g.26571899_26571900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1490644366 has merged into rs5830006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:26350114
(GRCh38)
2:26572982
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAA,NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAAA,NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26350106:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.01653/277
(TOMMO)
-=0.02167/13
(NorthernSweden)
-=0.075/3
(GENOME_DK)
-=0.13099/656
(1000Genomes)
- HGVS:
NC_000002.12:g.26350114_26350117del, NC_000002.12:g.26350115_26350117del, NC_000002.12:g.26350116_26350117del, NC_000002.12:g.26350117del, NC_000002.12:g.26350117dup, NC_000002.12:g.26350112_26350117dup, NC_000002.11:g.26572982_26572985del, NC_000002.11:g.26572983_26572985del, NC_000002.11:g.26572984_26572985del, NC_000002.11:g.26572985del, NC_000002.11:g.26572985dup, NC_000002.11:g.26572980_26572985dup
17.
rs1490577704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:26390030
(GRCh38)
2:26612898
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26390029:T:C
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
19.
rs1490440328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:26388706
(GRCh38)
2:26611574
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26388705:T:C
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490408483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:26357059
(GRCh38)
2:26579927
(GRCh37)
- Canonical SPDI:
- NC_000002.12:26357058:T:A
- Gene:
- SELENOI (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: