Links from Gene
Items: 1 to 20 of 23480
2.
rs1491559896 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:22985073
(GRCh38)
10:23274003
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22985073::C
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000029/3
(GnomAD)
- HGVS:
3.
rs1491494239 has merged into rs56405413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:22973761
(GRCh38)
10:23262690
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:22973753:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.22973761_22973776del, NC_000010.11:g.22973764_22973776del, NC_000010.11:g.22973765_22973776del, NC_000010.11:g.22973766_22973776del, NC_000010.11:g.22973767_22973776del, NC_000010.11:g.22973768_22973776del, NC_000010.11:g.22973769_22973776del, NC_000010.11:g.22973770_22973776del, NC_000010.11:g.22973771_22973776del, NC_000010.11:g.22973772_22973776del, NC_000010.11:g.22973773_22973776del, NC_000010.11:g.22973774_22973776del, NC_000010.11:g.22973775_22973776del, NC_000010.11:g.22973776del, NC_000010.11:g.22973776dup, NC_000010.11:g.22973775_22973776dup, NC_000010.11:g.22973774_22973776dup, NC_000010.11:g.22973773_22973776dup, NC_000010.11:g.22973754_22973776T[27]AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.22973772_22973776dup, NC_000010.11:g.22973771_22973776dup, NC_000010.11:g.22973770_22973776dup, NC_000010.11:g.22973769_22973776dup, NC_000010.11:g.22973768_22973776dup, NC_000010.11:g.22973766_22973776dup, NC_000010.11:g.22973765_22973776dup, NC_000010.11:g.22973764_22973776dup, NC_000010.11:g.22973762_22973776dup, NC_000010.11:g.22973761_22973776dup, NC_000010.11:g.22973760_22973776dup, NC_000010.11:g.22973759_22973776dup, NC_000010.11:g.22973757_22973776dup, NC_000010.11:g.22973754_22973776dup, NC_000010.11:g.22973776_22973777insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.22973776_22973777insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.22973776_22973777insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.22973776_22973777insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.23262690_23262705del, NC_000010.10:g.23262693_23262705del, NC_000010.10:g.23262694_23262705del, NC_000010.10:g.23262695_23262705del, NC_000010.10:g.23262696_23262705del, NC_000010.10:g.23262697_23262705del, NC_000010.10:g.23262698_23262705del, NC_000010.10:g.23262699_23262705del, NC_000010.10:g.23262700_23262705del, NC_000010.10:g.23262701_23262705del, NC_000010.10:g.23262702_23262705del, NC_000010.10:g.23262703_23262705del, NC_000010.10:g.23262704_23262705del, NC_000010.10:g.23262705del, NC_000010.10:g.23262705dup, NC_000010.10:g.23262704_23262705dup, NC_000010.10:g.23262703_23262705dup, NC_000010.10:g.23262702_23262705dup, NC_000010.10:g.23262683_23262705T[27]AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.23262701_23262705dup, NC_000010.10:g.23262700_23262705dup, NC_000010.10:g.23262699_23262705dup, NC_000010.10:g.23262698_23262705dup, NC_000010.10:g.23262697_23262705dup, NC_000010.10:g.23262695_23262705dup, NC_000010.10:g.23262694_23262705dup, NC_000010.10:g.23262693_23262705dup, NC_000010.10:g.23262691_23262705dup, NC_000010.10:g.23262690_23262705dup, NC_000010.10:g.23262689_23262705dup, NC_000010.10:g.23262688_23262705dup, NC_000010.10:g.23262686_23262705dup, NC_000010.10:g.23262683_23262705dup, NC_000010.10:g.23262705_23262706insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.23262705_23262706insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.23262705_23262706insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.23262705_23262706insTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491438041 has merged into rs553944945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 10:23012905
(GRCh38)
10:23301834
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:23012889:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.125/5
(GENOME_DK)
- HGVS:
NC_000010.11:g.23012905_23012907del, NC_000010.11:g.23012906_23012907del, NC_000010.11:g.23012907del, NC_000010.11:g.23012907dup, NC_000010.11:g.23012906_23012907dup, NC_000010.11:g.23012905_23012907dup, NC_000010.10:g.23301834_23301836del, NC_000010.10:g.23301835_23301836del, NC_000010.10:g.23301836del, NC_000010.10:g.23301836dup, NC_000010.10:g.23301835_23301836dup, NC_000010.10:g.23301834_23301836dup
8.
rs1491320345 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACACAC,CACACGC,CC
[Show Flanks]
- Chromosome:
- 10:22963923
(GRCh38)
10:23252853
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22963923::C,NC_000010.11:22963923::CAC,NC_000010.11:22963923::CACAC,NC_000010.11:22963923::CACACAC,NC_000010.11:22963923::CACACACAC,NC_000010.11:22963923::CACACACACAC,NC_000010.11:22963923::CACACACACACACAC,NC_000010.11:22963923::CACACGC,NC_000010.11:22963923::CC
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.22963923_22963924insC, NC_000010.11:g.22963923_22963924insCAC, NC_000010.11:g.22963923_22963924insCACAC, NC_000010.11:g.22963923_22963924insCACACAC, NC_000010.11:g.22963923_22963924insCACACACAC, NC_000010.11:g.22963923_22963924insCACACACACAC, NC_000010.11:g.22963923_22963924insCACACACACACACAC, NC_000010.11:g.22963923_22963924insCACACGC, NC_000010.11:g.22963923_22963924insCC, NC_000010.10:g.23252852_23252853insC, NC_000010.10:g.23252852_23252853insCAC, NC_000010.10:g.23252852_23252853insCACAC, NC_000010.10:g.23252852_23252853insCACACAC, NC_000010.10:g.23252852_23252853insCACACACAC, NC_000010.10:g.23252852_23252853insCACACACACAC, NC_000010.10:g.23252852_23252853insCACACACACACACAC, NC_000010.10:g.23252852_23252853insCACACGC, NC_000010.10:g.23252852_23252853insCC
9.
rs1491301227 has merged into rs35508443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:22963927
(GRCh38)
10:23252856
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:22963922:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.22963927_22963950del, NC_000010.11:g.22963929_22963950del, NC_000010.11:g.22963931_22963950del, NC_000010.11:g.22963932_22963950del, NC_000010.11:g.22963933_22963950del, NC_000010.11:g.22963934_22963950del, NC_000010.11:g.22963935_22963950del, NC_000010.11:g.22963936_22963950del, NC_000010.11:g.22963937_22963950del, NC_000010.11:g.22963938_22963950del, NC_000010.11:g.22963939_22963950del, NC_000010.11:g.22963940_22963950del, NC_000010.11:g.22963941_22963950del, NC_000010.11:g.22963942_22963950del, NC_000010.11:g.22963943_22963950del, NC_000010.11:g.22963944_22963950del, NC_000010.11:g.22963945_22963950del, NC_000010.11:g.22963946_22963950del, NC_000010.11:g.22963947_22963950del, NC_000010.11:g.22963948_22963950del, NC_000010.11:g.22963949_22963950del, NC_000010.11:g.22963950del, NC_000010.11:g.22963950dup, NC_000010.11:g.22963949_22963950dup, NC_000010.11:g.22963948_22963950dup, NC_000010.11:g.22963946_22963950dup, NC_000010.11:g.22963945_22963950dup, NC_000010.11:g.22963944_22963950dup, NC_000010.11:g.22963939_22963950dup, NC_000010.10:g.23252856_23252879del, NC_000010.10:g.23252858_23252879del, NC_000010.10:g.23252860_23252879del, NC_000010.10:g.23252861_23252879del, NC_000010.10:g.23252862_23252879del, NC_000010.10:g.23252863_23252879del, NC_000010.10:g.23252864_23252879del, NC_000010.10:g.23252865_23252879del, NC_000010.10:g.23252866_23252879del, NC_000010.10:g.23252867_23252879del, NC_000010.10:g.23252868_23252879del, NC_000010.10:g.23252869_23252879del, NC_000010.10:g.23252870_23252879del, NC_000010.10:g.23252871_23252879del, NC_000010.10:g.23252872_23252879del, NC_000010.10:g.23252873_23252879del, NC_000010.10:g.23252874_23252879del, NC_000010.10:g.23252875_23252879del, NC_000010.10:g.23252876_23252879del, NC_000010.10:g.23252877_23252879del, NC_000010.10:g.23252878_23252879del, NC_000010.10:g.23252879del, NC_000010.10:g.23252879dup, NC_000010.10:g.23252878_23252879dup, NC_000010.10:g.23252877_23252879dup, NC_000010.10:g.23252875_23252879dup, NC_000010.10:g.23252874_23252879dup, NC_000010.10:g.23252873_23252879dup, NC_000010.10:g.23252868_23252879dup
11.
rs1491223353 has merged into rs1188080079 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:23007711
(GRCh38)
10:23296640
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:23007698:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000064/17
(TOPMED)
AA=0.005435/3
(NorthernSweden)
- HGVS:
NC_000010.11:g.23007711_23007717del, NC_000010.11:g.23007713_23007717del, NC_000010.11:g.23007714_23007717del, NC_000010.11:g.23007715_23007717del, NC_000010.11:g.23007716_23007717del, NC_000010.11:g.23007717del, NC_000010.11:g.23007717dup, NC_000010.11:g.23007716_23007717dup, NC_000010.10:g.23296640_23296646del, NC_000010.10:g.23296642_23296646del, NC_000010.10:g.23296643_23296646del, NC_000010.10:g.23296644_23296646del, NC_000010.10:g.23296645_23296646del, NC_000010.10:g.23296646del, NC_000010.10:g.23296646dup, NC_000010.10:g.23296645_23296646dup
12.
rs1491167895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 10:22930935
(GRCh38)
10:23219864
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22930933:TCT:T
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000031/4
(GnomAD)
- HGVS:
13.
rs1491136569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 10:23012890
(GRCh38)
10:23301820
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23012890:T:TCT
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.00022/16
(GnomAD)
- HGVS:
14.
rs1491124466 has merged into rs35706584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:23005222
(GRCh38)
10:23294151
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.23005222_23005233del, NC_000010.11:g.23005224_23005233del, NC_000010.11:g.23005225_23005233del, NC_000010.11:g.23005226_23005233del, NC_000010.11:g.23005228_23005233del, NC_000010.11:g.23005229_23005233del, NC_000010.11:g.23005230_23005233del, NC_000010.11:g.23005231_23005233del, NC_000010.11:g.23005232_23005233del, NC_000010.11:g.23005233del, NC_000010.11:g.23005233dup, NC_000010.11:g.23005232_23005233dup, NC_000010.11:g.23005231_23005233dup, NC_000010.11:g.23005230_23005233dup, NC_000010.11:g.23005229_23005233dup, NC_000010.11:g.23005228_23005233dup, NC_000010.11:g.23005227_23005233dup, NC_000010.11:g.23005223_23005233dup, NC_000010.11:g.23005222_23005233dup, NC_000010.11:g.23005219_23005233dup, NC_000010.10:g.23294151_23294162del, NC_000010.10:g.23294153_23294162del, NC_000010.10:g.23294154_23294162del, NC_000010.10:g.23294155_23294162del, NC_000010.10:g.23294157_23294162del, NC_000010.10:g.23294158_23294162del, NC_000010.10:g.23294159_23294162del, NC_000010.10:g.23294160_23294162del, NC_000010.10:g.23294161_23294162del, NC_000010.10:g.23294162del, NC_000010.10:g.23294162dup, NC_000010.10:g.23294161_23294162dup, NC_000010.10:g.23294160_23294162dup, NC_000010.10:g.23294159_23294162dup, NC_000010.10:g.23294158_23294162dup, NC_000010.10:g.23294157_23294162dup, NC_000010.10:g.23294156_23294162dup, NC_000010.10:g.23294152_23294162dup, NC_000010.10:g.23294151_23294162dup, NC_000010.10:g.23294148_23294162dup
15.
rs1491100301 has merged into rs776143888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:23002619
(GRCh38)
10:23291548
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:23002609:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.00833/5
(NorthernSweden)
- HGVS:
NC_000010.11:g.23002619_23002620del, NC_000010.11:g.23002620del, NC_000010.11:g.23002620dup, NC_000010.11:g.23002619_23002620dup, NC_000010.11:g.23002618_23002620dup, NC_000010.11:g.23002614_23002620dup, NC_000010.10:g.23291548_23291549del, NC_000010.10:g.23291549del, NC_000010.10:g.23291549dup, NC_000010.10:g.23291548_23291549dup, NC_000010.10:g.23291547_23291549dup, NC_000010.10:g.23291543_23291549dup
16.
rs1491092886 has merged into rs35706584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:23005222
(GRCh38)
10:23294151
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:23005211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.23005222_23005233del, NC_000010.11:g.23005224_23005233del, NC_000010.11:g.23005225_23005233del, NC_000010.11:g.23005226_23005233del, NC_000010.11:g.23005228_23005233del, NC_000010.11:g.23005229_23005233del, NC_000010.11:g.23005230_23005233del, NC_000010.11:g.23005231_23005233del, NC_000010.11:g.23005232_23005233del, NC_000010.11:g.23005233del, NC_000010.11:g.23005233dup, NC_000010.11:g.23005232_23005233dup, NC_000010.11:g.23005231_23005233dup, NC_000010.11:g.23005230_23005233dup, NC_000010.11:g.23005229_23005233dup, NC_000010.11:g.23005228_23005233dup, NC_000010.11:g.23005227_23005233dup, NC_000010.11:g.23005223_23005233dup, NC_000010.11:g.23005222_23005233dup, NC_000010.11:g.23005219_23005233dup, NC_000010.10:g.23294151_23294162del, NC_000010.10:g.23294153_23294162del, NC_000010.10:g.23294154_23294162del, NC_000010.10:g.23294155_23294162del, NC_000010.10:g.23294157_23294162del, NC_000010.10:g.23294158_23294162del, NC_000010.10:g.23294159_23294162del, NC_000010.10:g.23294160_23294162del, NC_000010.10:g.23294161_23294162del, NC_000010.10:g.23294162del, NC_000010.10:g.23294162dup, NC_000010.10:g.23294161_23294162dup, NC_000010.10:g.23294160_23294162dup, NC_000010.10:g.23294159_23294162dup, NC_000010.10:g.23294158_23294162dup, NC_000010.10:g.23294157_23294162dup, NC_000010.10:g.23294156_23294162dup, NC_000010.10:g.23294152_23294162dup, NC_000010.10:g.23294151_23294162dup, NC_000010.10:g.23294148_23294162dup
17.
rs1491061414 has merged into rs66842579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAG>-,AG,AGAG,AGAGAGAG
[Show Flanks]
- Chromosome:
- 10:23007721
(GRCh38)
10:23296650
(GRCh37)
- Canonical SPDI:
- NC_000010.11:23007716:AGAGAGAGAG:AGAG,NC_000010.11:23007716:AGAGAGAGAG:AGAGAG,NC_000010.11:23007716:AGAGAGAGAG:AGAGAGAG,NC_000010.11:23007716:AGAGAGAGAG:AGAGAGAGAGAG
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAG=0./0
(
ALFA)
AGAG=0.29073/1456
(1000Genomes)
-=0.35/14
(GENOME_DK)
-=0.46137/7381
(TOMMO)
- HGVS:
18.
rs1491044174 has merged into rs375932608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 10:22996934
(GRCh38)
10:23285863
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22996924:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:22996924:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:22996924:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:22996924:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0.00089/9
(
ALFA)
-=0.16203/722
(1000Genomes)
- HGVS:
19.
rs1491002185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22979315
(GRCh38)
10:23268244
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22979314:A:G
- Gene:
- ARMC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490912898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22996362
(GRCh38)
10:23285291
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22996361:A:G
- Gene:
- ARMC3 (Varview), LOC107984215 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS: