Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575224 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:42468954
(GRCh38)
2:42696094
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42468953:CA:
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.0001/4
(GnomAD)
- HGVS:
2.
rs1491559721 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 2:42452244
(GRCh38)
2:42679385
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42452244::A,NC_000002.12:42452244::ATA,NC_000002.12:42452244::ATATA,NC_000002.12:42452244::ATATATA,NC_000002.12:42452244::ATATATATA,NC_000002.12:42452244::ATATATATATA,NC_000002.12:42452244::ATATATATATATA,NC_000002.12:42452244::ATATATATATATATA,NC_000002.12:42452244::ATATATATATATATATA,NC_000002.12:42452244::ATATATATATATATATATA,NC_000002.12:42452244::ATATATATATATATATATATATA,NC_000002.12:42452244::ATATATATATATATATATATATATA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.42452244_42452245insA, NC_000002.12:g.42452244_42452245insATA, NC_000002.12:g.42452244_42452245insATATA, NC_000002.12:g.42452244_42452245insATATATA, NC_000002.12:g.42452244_42452245insATATATATA, NC_000002.12:g.42452244_42452245insATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATATATATATATA, NC_000002.12:g.42452244_42452245insATATATATATATATATATATATATA, NC_000002.11:g.42679384_42679385insA, NC_000002.11:g.42679384_42679385insATA, NC_000002.11:g.42679384_42679385insATATA, NC_000002.11:g.42679384_42679385insATATATA, NC_000002.11:g.42679384_42679385insATATATATA, NC_000002.11:g.42679384_42679385insATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATATATATATATA, NC_000002.11:g.42679384_42679385insATATATATATATATATATATATATA
3.
rs1491505157 has merged into rs67651134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:42451215
(GRCh38)
2:42678355
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42451204:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.42451215_42451229del, NC_000002.12:g.42451216_42451229del, NC_000002.12:g.42451217_42451229del, NC_000002.12:g.42451218_42451229del, NC_000002.12:g.42451219_42451229del, NC_000002.12:g.42451220_42451229del, NC_000002.12:g.42451221_42451229del, NC_000002.12:g.42451222_42451229del, NC_000002.12:g.42451223_42451229del, NC_000002.12:g.42451224_42451229del, NC_000002.12:g.42451225_42451229del, NC_000002.12:g.42451226_42451229del, NC_000002.12:g.42451227_42451229del, NC_000002.12:g.42451228_42451229del, NC_000002.12:g.42451229del, NC_000002.12:g.42451229dup, NC_000002.12:g.42451228_42451229dup, NC_000002.12:g.42451227_42451229dup, NC_000002.12:g.42451226_42451229dup, NC_000002.12:g.42451225_42451229dup, NC_000002.12:g.42451224_42451229dup, NC_000002.12:g.42451223_42451229dup, NC_000002.12:g.42451222_42451229dup, NC_000002.12:g.42451221_42451229dup, NC_000002.12:g.42451220_42451229dup, NC_000002.12:g.42451219_42451229dup, NC_000002.12:g.42451216_42451229dup, NC_000002.12:g.42451208_42451229dup, NC_000002.11:g.42678355_42678369del, NC_000002.11:g.42678356_42678369del, NC_000002.11:g.42678357_42678369del, NC_000002.11:g.42678358_42678369del, NC_000002.11:g.42678359_42678369del, NC_000002.11:g.42678360_42678369del, NC_000002.11:g.42678361_42678369del, NC_000002.11:g.42678362_42678369del, NC_000002.11:g.42678363_42678369del, NC_000002.11:g.42678364_42678369del, NC_000002.11:g.42678365_42678369del, NC_000002.11:g.42678366_42678369del, NC_000002.11:g.42678367_42678369del, NC_000002.11:g.42678368_42678369del, NC_000002.11:g.42678369del, NC_000002.11:g.42678369dup, NC_000002.11:g.42678368_42678369dup, NC_000002.11:g.42678367_42678369dup, NC_000002.11:g.42678366_42678369dup, NC_000002.11:g.42678365_42678369dup, NC_000002.11:g.42678364_42678369dup, NC_000002.11:g.42678363_42678369dup, NC_000002.11:g.42678362_42678369dup, NC_000002.11:g.42678361_42678369dup, NC_000002.11:g.42678360_42678369dup, NC_000002.11:g.42678359_42678369dup, NC_000002.11:g.42678356_42678369dup, NC_000002.11:g.42678348_42678369dup
4.
rs1491484012 has merged into rs34199989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:42461194
(GRCh38)
2:42688334
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42461182:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0./0
(GENOME_DK)
-=0.4229/1568
(TWINSUK)
-=0.4403/1697
(ALSPAC)
- HGVS:
NC_000002.12:g.42461194_42461205del, NC_000002.12:g.42461195_42461205del, NC_000002.12:g.42461196_42461205del, NC_000002.12:g.42461197_42461205del, NC_000002.12:g.42461198_42461205del, NC_000002.12:g.42461199_42461205del, NC_000002.12:g.42461200_42461205del, NC_000002.12:g.42461201_42461205del, NC_000002.12:g.42461202_42461205del, NC_000002.12:g.42461203_42461205del, NC_000002.12:g.42461204_42461205del, NC_000002.12:g.42461205del, NC_000002.12:g.42461205dup, NC_000002.12:g.42461204_42461205dup, NC_000002.12:g.42461203_42461205dup, NC_000002.12:g.42461202_42461205dup, NC_000002.12:g.42461201_42461205dup, NC_000002.12:g.42461200_42461205dup, NC_000002.12:g.42461199_42461205dup, NC_000002.12:g.42461198_42461205dup, NC_000002.12:g.42461197_42461205dup, NC_000002.12:g.42461196_42461205dup, NC_000002.12:g.42461195_42461205dup, NC_000002.12:g.42461194_42461205dup, NC_000002.12:g.42461193_42461205dup, NC_000002.12:g.42461192_42461205dup, NC_000002.12:g.42461191_42461205dup, NC_000002.12:g.42461190_42461205dup, NC_000002.12:g.42461189_42461205dup, NC_000002.12:g.42461188_42461205dup, NC_000002.12:g.42461187_42461205dup, NC_000002.12:g.42461186_42461205dup, NC_000002.12:g.42461185_42461205dup, NC_000002.12:g.42461184_42461205dup, NC_000002.12:g.42461183_42461205dup, NC_000002.12:g.42461205_42461206insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.42461205_42461206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.42461205_42461206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.42688334_42688345del, NC_000002.11:g.42688335_42688345del, NC_000002.11:g.42688336_42688345del, NC_000002.11:g.42688337_42688345del, NC_000002.11:g.42688338_42688345del, NC_000002.11:g.42688339_42688345del, NC_000002.11:g.42688340_42688345del, NC_000002.11:g.42688341_42688345del, NC_000002.11:g.42688342_42688345del, NC_000002.11:g.42688343_42688345del, NC_000002.11:g.42688344_42688345del, NC_000002.11:g.42688345del, NC_000002.11:g.42688345dup, NC_000002.11:g.42688344_42688345dup, NC_000002.11:g.42688343_42688345dup, NC_000002.11:g.42688342_42688345dup, NC_000002.11:g.42688341_42688345dup, NC_000002.11:g.42688340_42688345dup, NC_000002.11:g.42688339_42688345dup, NC_000002.11:g.42688338_42688345dup, NC_000002.11:g.42688337_42688345dup, NC_000002.11:g.42688336_42688345dup, NC_000002.11:g.42688335_42688345dup, NC_000002.11:g.42688334_42688345dup, NC_000002.11:g.42688333_42688345dup, NC_000002.11:g.42688332_42688345dup, NC_000002.11:g.42688331_42688345dup, NC_000002.11:g.42688330_42688345dup, NC_000002.11:g.42688329_42688345dup, NC_000002.11:g.42688328_42688345dup, NC_000002.11:g.42688327_42688345dup, NC_000002.11:g.42688326_42688345dup, NC_000002.11:g.42688325_42688345dup, NC_000002.11:g.42688324_42688345dup, NC_000002.11:g.42688323_42688345dup, NC_000002.11:g.42688345_42688346insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.42688345_42688346insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.42688345_42688346insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491472583 has merged into rs771771721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:42452253
(GRCh38)
2:42679393
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:42452243:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.42452253_42452259del, NC_000002.12:g.42452254_42452259del, NC_000002.12:g.42452255_42452259del, NC_000002.12:g.42452256_42452259del, NC_000002.12:g.42452257_42452259del, NC_000002.12:g.42452258_42452259del, NC_000002.12:g.42452259del, NC_000002.12:g.42452259dup, NC_000002.12:g.42452258_42452259dup, NC_000002.12:g.42452257_42452259dup, NC_000002.12:g.42452256_42452259dup, NC_000002.12:g.42452255_42452259dup, NC_000002.12:g.42452254_42452259dup, NC_000002.12:g.42452253_42452259dup, NC_000002.12:g.42452252_42452259dup, NC_000002.12:g.42452251_42452259dup, NC_000002.12:g.42452250_42452259dup, NC_000002.11:g.42679393_42679399del, NC_000002.11:g.42679394_42679399del, NC_000002.11:g.42679395_42679399del, NC_000002.11:g.42679396_42679399del, NC_000002.11:g.42679397_42679399del, NC_000002.11:g.42679398_42679399del, NC_000002.11:g.42679399del, NC_000002.11:g.42679399dup, NC_000002.11:g.42679398_42679399dup, NC_000002.11:g.42679397_42679399dup, NC_000002.11:g.42679396_42679399dup, NC_000002.11:g.42679395_42679399dup, NC_000002.11:g.42679394_42679399dup, NC_000002.11:g.42679393_42679399dup, NC_000002.11:g.42679392_42679399dup, NC_000002.11:g.42679391_42679399dup, NC_000002.11:g.42679390_42679399dup
6.
rs1491470655 has merged into rs202109255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 2:42476503
(GRCh38)
2:42703643
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42476499:TTTTT:TTT,NC_000002.12:42476499:TTTTT:TTTT,NC_000002.12:42476499:TTTTT:TTTTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000045/12
(TOPMED)
-=0.00092/15
(TOMMO)
- HGVS:
7.
rs1491426694 has merged into rs35812622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT
[Show Flanks]
- Chromosome:
- 2:42472899
(GRCh38)
2:42700039
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42472890:ATATATATATATAT:ATATATAT,NC_000002.12:42472890:ATATATATATATAT:ATATATATAT,NC_000002.12:42472890:ATATATATATATAT:ATATATATATAT,NC_000002.12:42472890:ATATATATATATAT:ATATATATATATATAT,NC_000002.12:42472890:ATATATATATATAT:ATATATATATATATATAT,NC_000002.12:42472890:ATATATATATATAT:ATATATATATATATATATAT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
AT=0.25685/150
(NorthernSweden)
- HGVS:
NC_000002.12:g.42472891AT[4], NC_000002.12:g.42472891AT[5], NC_000002.12:g.42472891AT[6], NC_000002.12:g.42472891AT[8], NC_000002.12:g.42472891AT[9], NC_000002.12:g.42472891AT[10], NC_000002.11:g.42700031AT[4], NC_000002.11:g.42700031AT[5], NC_000002.11:g.42700031AT[6], NC_000002.11:g.42700031AT[8], NC_000002.11:g.42700031AT[9], NC_000002.11:g.42700031AT[10]
8.
rs1491418220 has merged into rs35392805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 2:42445091
(GRCh38)
2:42672231
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4085/2046
(1000Genomes)
- HGVS:
NC_000002.12:g.42445091_42445093del, NC_000002.12:g.42445092_42445093del, NC_000002.12:g.42445093del, NC_000002.12:g.42445093dup, NC_000002.12:g.42445092_42445093dup, NC_000002.12:g.42445091_42445093dup, NC_000002.12:g.42445090_42445093dup, NC_000002.12:g.42445089_42445093dup, NC_000002.11:g.42672231_42672233del, NC_000002.11:g.42672232_42672233del, NC_000002.11:g.42672233del, NC_000002.11:g.42672233dup, NC_000002.11:g.42672232_42672233dup, NC_000002.11:g.42672231_42672233dup, NC_000002.11:g.42672230_42672233dup, NC_000002.11:g.42672229_42672233dup
9.
rs1491409946 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 2:42441793
(GRCh38)
2:42668933
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42441792:GG:
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00016/22
(GnomAD)
-=0.001982/33
(TOMMO)
- HGVS:
10.
rs1491406136 has merged into rs61287684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:42468965
(GRCh38)
2:42696105
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42468954:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000002.12:g.42468965_42468981del, NC_000002.12:g.42468967_42468981del, NC_000002.12:g.42468968_42468981del, NC_000002.12:g.42468969_42468981del, NC_000002.12:g.42468970_42468981del, NC_000002.12:g.42468971_42468981del, NC_000002.12:g.42468972_42468981del, NC_000002.12:g.42468973_42468981del, NC_000002.12:g.42468974_42468981del, NC_000002.12:g.42468975_42468981del, NC_000002.12:g.42468976_42468981del, NC_000002.12:g.42468977_42468981del, NC_000002.12:g.42468978_42468981del, NC_000002.12:g.42468979_42468981del, NC_000002.12:g.42468980_42468981del, NC_000002.12:g.42468981del, NC_000002.12:g.42468981dup, NC_000002.12:g.42468980_42468981dup, NC_000002.12:g.42468979_42468981dup, NC_000002.12:g.42468978_42468981dup, NC_000002.12:g.42468973_42468981dup, NC_000002.12:g.42468981_42468982insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.42696105_42696121del, NC_000002.11:g.42696107_42696121del, NC_000002.11:g.42696108_42696121del, NC_000002.11:g.42696109_42696121del, NC_000002.11:g.42696110_42696121del, NC_000002.11:g.42696111_42696121del, NC_000002.11:g.42696112_42696121del, NC_000002.11:g.42696113_42696121del, NC_000002.11:g.42696114_42696121del, NC_000002.11:g.42696115_42696121del, NC_000002.11:g.42696116_42696121del, NC_000002.11:g.42696117_42696121del, NC_000002.11:g.42696118_42696121del, NC_000002.11:g.42696119_42696121del, NC_000002.11:g.42696120_42696121del, NC_000002.11:g.42696121del, NC_000002.11:g.42696121dup, NC_000002.11:g.42696120_42696121dup, NC_000002.11:g.42696119_42696121dup, NC_000002.11:g.42696118_42696121dup, NC_000002.11:g.42696113_42696121dup, NC_000002.11:g.42696121_42696122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
12.
rs1491333025 has merged into rs768215543 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:42477436
(GRCh38)
2:42704576
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:42477427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.42477436_42477445del, NC_000002.12:g.42477438_42477445del, NC_000002.12:g.42477439_42477445del, NC_000002.12:g.42477440_42477445del, NC_000002.12:g.42477441_42477445del, NC_000002.12:g.42477442_42477445del, NC_000002.12:g.42477443_42477445del, NC_000002.12:g.42477444_42477445del, NC_000002.12:g.42477445del, NC_000002.12:g.42477445dup, NC_000002.12:g.42477444_42477445dup, NC_000002.11:g.42704576_42704585del, NC_000002.11:g.42704578_42704585del, NC_000002.11:g.42704579_42704585del, NC_000002.11:g.42704580_42704585del, NC_000002.11:g.42704581_42704585del, NC_000002.11:g.42704582_42704585del, NC_000002.11:g.42704583_42704585del, NC_000002.11:g.42704584_42704585del, NC_000002.11:g.42704585del, NC_000002.11:g.42704585dup, NC_000002.11:g.42704584_42704585dup
13.
rs1491142499 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:42476499
(GRCh38)
2:42703639
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42476498:AT:
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000758/106
(GnomAD)
- HGVS:
14.
rs1491112157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAA,CAAAACAAA
[Show Flanks]
- Chromosome:
- 2:42461183
(GRCh38)
2:42688324
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42461183:AAA:AAACAAA,NC_000002.12:42461183:AAA:AAACAAAACAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAACAAA=0.00051/6
(
ALFA)
AAAC=0.00243/65
(TOMMO)
AAAC=0.02565/746
(GnomAD)
- HGVS:
15.
rs1491104495 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 2:42441802
(GRCh38)
2:42668942
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42441793:GTGTGTGTGT:GTGTGTGT,NC_000002.12:42441793:GTGTGTGTGT:GTGTGTGTGTGT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGT=0.00008/1
(
ALFA)
- HGVS:
16.
rs1491078281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTT
[Show Flanks]
- Chromosome:
- 2:42452795
(GRCh38)
2:42679936
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42452795:T:TGTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTTT=0./0
(
ALFA)
TGTT=0.000004/1
(TOPMED)
TGTT=0.000007/1
(GnomAD)
- HGVS:
17.
rs1491063476 has merged into rs111727996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:42488559
(GRCh38)
2:42715699
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:42488552:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000317/84
(TOPMED)
T=0.075/3
(GENOME_DK)
- HGVS:
NC_000002.12:g.42488559_42488567del, NC_000002.12:g.42488565_42488567del, NC_000002.12:g.42488566_42488567del, NC_000002.12:g.42488567del, NC_000002.12:g.42488567dup, NC_000002.12:g.42488566_42488567dup, NC_000002.12:g.42488565_42488567dup, NC_000002.11:g.42715699_42715707del, NC_000002.11:g.42715705_42715707del, NC_000002.11:g.42715706_42715707del, NC_000002.11:g.42715707del, NC_000002.11:g.42715707dup, NC_000002.11:g.42715706_42715707dup, NC_000002.11:g.42715705_42715707dup
19.
rs1491021360 has merged into rs35392805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 2:42445091
(GRCh38)
2:42672231
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:42445073:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4085/2046
(1000Genomes)
- HGVS:
NC_000002.12:g.42445091_42445093del, NC_000002.12:g.42445092_42445093del, NC_000002.12:g.42445093del, NC_000002.12:g.42445093dup, NC_000002.12:g.42445092_42445093dup, NC_000002.12:g.42445091_42445093dup, NC_000002.12:g.42445090_42445093dup, NC_000002.12:g.42445089_42445093dup, NC_000002.11:g.42672231_42672233del, NC_000002.11:g.42672232_42672233del, NC_000002.11:g.42672233del, NC_000002.11:g.42672233dup, NC_000002.11:g.42672232_42672233dup, NC_000002.11:g.42672231_42672233dup, NC_000002.11:g.42672230_42672233dup, NC_000002.11:g.42672229_42672233dup
20.
rs1491004903 has merged into rs11427289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:42485459
(GRCh38)
2:42712599
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:42485449:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KCNG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1589/551
(1000Genomes)
- HGVS:
NC_000002.12:g.42485459_42485462del, NC_000002.12:g.42485461_42485462del, NC_000002.12:g.42485462del, NC_000002.12:g.42485462dup, NC_000002.12:g.42485461_42485462dup, NC_000002.12:g.42485453_42485462dup, NC_000002.11:g.42712599_42712602del, NC_000002.11:g.42712601_42712602del, NC_000002.11:g.42712602del, NC_000002.11:g.42712602dup, NC_000002.11:g.42712601_42712602dup, NC_000002.11:g.42712593_42712602dup