Links from Gene
Items: 1 to 20 of 10495
1.
rs1491516738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 15:65412512
(GRCh38)
15:65704851
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65412512:AA:AACAA
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AACAA=0./0
(
ALFA)
AAC=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491431717 has merged into rs34659004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 15:65407299
(GRCh38)
15:65699637
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65407289:AAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:65407289:AAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:65407289:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:65407289:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:65407289:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.000142/2
(
ALFA)
-=0.175/7
(GENOME_DK)
-=0.201996/749
(TWINSUK)
-=0.203944/786
(ALSPAC)
-=0.204273/54069
(TOPMED)
-=0.286913/171
(NorthernSweden)
-=0.307907/1542
(1000Genomes)
- HGVS:
3.
rs1491418773 has merged into rs34355872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 15:65407813
(GRCh38)
15:65700151
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:65407801:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.47/2354
(1000Genomes)
- HGVS:
NC_000015.10:g.65407813_65407815del, NC_000015.10:g.65407814_65407815del, NC_000015.10:g.65407815del, NC_000015.10:g.65407815dup, NC_000015.10:g.65407814_65407815dup, NC_000015.10:g.65407813_65407815dup, NC_000015.9:g.65700151_65700153del, NC_000015.9:g.65700152_65700153del, NC_000015.9:g.65700153del, NC_000015.9:g.65700153dup, NC_000015.9:g.65700152_65700153dup, NC_000015.9:g.65700151_65700153dup
5.
rs1491331670 has merged into rs59690408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 15:65413043
(GRCh38)
15:65705381
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:65413024:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.0393/197
(1000Genomes)
- HGVS:
NC_000015.10:g.65413025TG[9], NC_000015.10:g.65413025TG[10], NC_000015.10:g.65413025TG[11], NC_000015.10:g.65413025TG[12], NC_000015.10:g.65413025TG[13], NC_000015.10:g.65413025TG[14], NC_000015.10:g.65413025TG[15], NC_000015.10:g.65413025TG[16], NC_000015.10:g.65413025TG[17], NC_000015.10:g.65413025TG[19], NC_000015.10:g.65413025TG[20], NC_000015.10:g.65413025TG[21], NC_000015.10:g.65413025TG[22], NC_000015.10:g.65413025TG[23], NC_000015.10:g.65413025TG[24], NC_000015.10:g.65413025TG[25], NC_000015.10:g.65413025TG[26], NC_000015.10:g.65413025TG[27], NC_000015.10:g.65413025TG[28], NC_000015.10:g.65413025TG[29], NC_000015.9:g.65705363TG[9], NC_000015.9:g.65705363TG[10], NC_000015.9:g.65705363TG[11], NC_000015.9:g.65705363TG[12], NC_000015.9:g.65705363TG[13], NC_000015.9:g.65705363TG[14], NC_000015.9:g.65705363TG[15], NC_000015.9:g.65705363TG[16], NC_000015.9:g.65705363TG[17], NC_000015.9:g.65705363TG[19], NC_000015.9:g.65705363TG[20], NC_000015.9:g.65705363TG[21], NC_000015.9:g.65705363TG[22], NC_000015.9:g.65705363TG[23], NC_000015.9:g.65705363TG[24], NC_000015.9:g.65705363TG[25], NC_000015.9:g.65705363TG[26], NC_000015.9:g.65705363TG[27], NC_000015.9:g.65705363TG[28], NC_000015.9:g.65705363TG[29]
6.
rs1491225800 has merged into rs397702487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:65408851
(GRCh38)
15:65701189
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65408838:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.65408851_65408857del, NC_000015.10:g.65408853_65408857del, NC_000015.10:g.65408855_65408857del, NC_000015.10:g.65408856_65408857del, NC_000015.10:g.65408857del, NC_000015.10:g.65408857dup, NC_000015.10:g.65408856_65408857dup, NC_000015.10:g.65408855_65408857dup, NC_000015.10:g.65408854_65408857dup, NC_000015.10:g.65408853_65408857dup, NC_000015.10:g.65408851_65408857dup, NC_000015.10:g.65408850_65408857dup, NC_000015.9:g.65701189_65701195del, NC_000015.9:g.65701191_65701195del, NC_000015.9:g.65701193_65701195del, NC_000015.9:g.65701194_65701195del, NC_000015.9:g.65701195del, NC_000015.9:g.65701195dup, NC_000015.9:g.65701194_65701195dup, NC_000015.9:g.65701193_65701195dup, NC_000015.9:g.65701192_65701195dup, NC_000015.9:g.65701191_65701195dup, NC_000015.9:g.65701189_65701195dup, NC_000015.9:g.65701188_65701195dup
7.
rs1491183953 has merged into rs3082805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:65412523
(GRCh38)
15:65704861
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65412511:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3275/1640
(1000Genomes)
- HGVS:
NC_000015.10:g.65412523_65412538del, NC_000015.10:g.65412524_65412538del, NC_000015.10:g.65412525_65412538del, NC_000015.10:g.65412526_65412538del, NC_000015.10:g.65412527_65412538del, NC_000015.10:g.65412528_65412538del, NC_000015.10:g.65412529_65412538del, NC_000015.10:g.65412530_65412538del, NC_000015.10:g.65412531_65412538del, NC_000015.10:g.65412532_65412538del, NC_000015.10:g.65412533_65412538del, NC_000015.10:g.65412534_65412538del, NC_000015.10:g.65412535_65412538del, NC_000015.10:g.65412536_65412538del, NC_000015.10:g.65412537_65412538del, NC_000015.10:g.65412538del, NC_000015.10:g.65412538dup, NC_000015.10:g.65412537_65412538dup, NC_000015.10:g.65412536_65412538dup, NC_000015.10:g.65412535_65412538dup, NC_000015.10:g.65412534_65412538dup, NC_000015.10:g.65412533_65412538dup, NC_000015.10:g.65412532_65412538dup, NC_000015.10:g.65412531_65412538dup, NC_000015.10:g.65412530_65412538dup, NC_000015.10:g.65412529_65412538dup, NC_000015.10:g.65412528_65412538dup, NC_000015.10:g.65412527_65412538dup, NC_000015.10:g.65412526_65412538dup, NC_000015.10:g.65412523_65412538dup, NC_000015.10:g.65412512_65412538dup, NC_000015.9:g.65704861_65704876del, NC_000015.9:g.65704862_65704876del, NC_000015.9:g.65704863_65704876del, NC_000015.9:g.65704864_65704876del, NC_000015.9:g.65704865_65704876del, NC_000015.9:g.65704866_65704876del, NC_000015.9:g.65704867_65704876del, NC_000015.9:g.65704868_65704876del, NC_000015.9:g.65704869_65704876del, NC_000015.9:g.65704870_65704876del, NC_000015.9:g.65704871_65704876del, NC_000015.9:g.65704872_65704876del, NC_000015.9:g.65704873_65704876del, NC_000015.9:g.65704874_65704876del, NC_000015.9:g.65704875_65704876del, NC_000015.9:g.65704876del, NC_000015.9:g.65704876dup, NC_000015.9:g.65704875_65704876dup, NC_000015.9:g.65704874_65704876dup, NC_000015.9:g.65704873_65704876dup, NC_000015.9:g.65704872_65704876dup, NC_000015.9:g.65704871_65704876dup, NC_000015.9:g.65704870_65704876dup, NC_000015.9:g.65704869_65704876dup, NC_000015.9:g.65704868_65704876dup, NC_000015.9:g.65704867_65704876dup, NC_000015.9:g.65704866_65704876dup, NC_000015.9:g.65704865_65704876dup, NC_000015.9:g.65704864_65704876dup, NC_000015.9:g.65704861_65704876dup, NC_000015.9:g.65704850_65704876dup
8.
rs1491173383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 15:65405130
(GRCh38)
15:65697469
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65405130:G:GCG
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0./0
(
ALFA)
GC=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491160671 has merged into rs112040935 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:65399458
(GRCh38)
15:65691796
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65399447:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0.2496/1250
(1000Genomes)
-=0.2748/1059
(ALSPAC)
- HGVS:
NC_000015.10:g.65399458_65399471del, NC_000015.10:g.65399459_65399471del, NC_000015.10:g.65399460_65399471del, NC_000015.10:g.65399461_65399471del, NC_000015.10:g.65399462_65399471del, NC_000015.10:g.65399463_65399471del, NC_000015.10:g.65399464_65399471del, NC_000015.10:g.65399465_65399471del, NC_000015.10:g.65399466_65399471del, NC_000015.10:g.65399467_65399471del, NC_000015.10:g.65399468_65399471del, NC_000015.10:g.65399469_65399471del, NC_000015.10:g.65399470_65399471del, NC_000015.10:g.65399471del, NC_000015.10:g.65399471dup, NC_000015.10:g.65399470_65399471dup, NC_000015.10:g.65399469_65399471dup, NC_000015.10:g.65399468_65399471dup, NC_000015.10:g.65399467_65399471dup, NC_000015.10:g.65399466_65399471dup, NC_000015.10:g.65399465_65399471dup, NC_000015.10:g.65399464_65399471dup, NC_000015.10:g.65399463_65399471dup, NC_000015.10:g.65399460_65399471dup, NC_000015.10:g.65399459_65399471dup, NC_000015.10:g.65399456_65399471dup, NC_000015.10:g.65399455_65399471dup, NC_000015.10:g.65399453_65399471dup, NC_000015.10:g.65399452_65399471dup, NC_000015.10:g.65399451_65399471dup, NC_000015.10:g.65399471_65399472insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.65691796_65691809del, NC_000015.9:g.65691797_65691809del, NC_000015.9:g.65691798_65691809del, NC_000015.9:g.65691799_65691809del, NC_000015.9:g.65691800_65691809del, NC_000015.9:g.65691801_65691809del, NC_000015.9:g.65691802_65691809del, NC_000015.9:g.65691803_65691809del, NC_000015.9:g.65691804_65691809del, NC_000015.9:g.65691805_65691809del, NC_000015.9:g.65691806_65691809del, NC_000015.9:g.65691807_65691809del, NC_000015.9:g.65691808_65691809del, NC_000015.9:g.65691809del, NC_000015.9:g.65691809dup, NC_000015.9:g.65691808_65691809dup, NC_000015.9:g.65691807_65691809dup, NC_000015.9:g.65691806_65691809dup, NC_000015.9:g.65691805_65691809dup, NC_000015.9:g.65691804_65691809dup, NC_000015.9:g.65691803_65691809dup, NC_000015.9:g.65691802_65691809dup, NC_000015.9:g.65691801_65691809dup, NC_000015.9:g.65691798_65691809dup, NC_000015.9:g.65691797_65691809dup, NC_000015.9:g.65691794_65691809dup, NC_000015.9:g.65691793_65691809dup, NC_000015.9:g.65691791_65691809dup, NC_000015.9:g.65691790_65691809dup, NC_000015.9:g.65691789_65691809dup, NC_000015.9:g.65691809_65691810insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
10.
rs1491125570 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:65407802
(GRCh38)
15:65700141
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65407802::A
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00007/1
(
ALFA)
A=0./0
(GnomAD)
A=0.00013/1
(TOMMO)
- HGVS:
12.
rs1490944345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:65416485
(GRCh38)
15:65708823
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65416484:T:C
- Gene:
- IGDCC4 (Varview), LOC124903510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490864401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65401943
(GRCh38)
15:65694281
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65401942:C:T
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000045/6
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
14.
rs1490783822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:65394288
(GRCh38)
15:65686626
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65394287:C:A
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490731040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65424262
(GRCh38)
15:65716600
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65424261:A:G
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490694410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCACAACTGTCCTGTGGC>-
[Show Flanks]
- Chromosome:
- 15:65409173
(GRCh38)
15:65701511
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65409171:CCTCACAACTGTCCTGTGGC:C
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
18.
rs1490681809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65423296
(GRCh38)
15:65715634
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65423295:C:T
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490669929 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:65386075
(GRCh38)
15:65678414
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65386075:AAAA:AAAAA
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490654806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:65385123
(GRCh38)
15:65677461
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65385122:G:A
- Gene:
- IGDCC4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: