Links from Gene
Items: 1 to 20 of 18259
1.
rs1491496004 has merged into rs5788033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 10:113621330
(GRCh38)
10:115381089
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
ACAC=0.4079/2043
(1000Genomes)
- HGVS:
NC_000010.11:g.113621316CA[7], NC_000010.11:g.113621316CA[8], NC_000010.11:g.113621316CA[9], NC_000010.11:g.113621316CA[10], NC_000010.11:g.113621316CA[11], NC_000010.11:g.113621316CA[12], NC_000010.11:g.113621316CA[14], NC_000010.11:g.113621316CA[15], NC_000010.11:g.113621316CA[16], NC_000010.11:g.113621316CA[17], NC_000010.11:g.113621316CA[18], NC_000010.10:g.115381075CA[7], NC_000010.10:g.115381075CA[8], NC_000010.10:g.115381075CA[9], NC_000010.10:g.115381075CA[10], NC_000010.10:g.115381075CA[11], NC_000010.10:g.115381075CA[12], NC_000010.10:g.115381075CA[14], NC_000010.10:g.115381075CA[15], NC_000010.10:g.115381075CA[16], NC_000010.10:g.115381075CA[17], NC_000010.10:g.115381075CA[18]
2.
rs1491492120 has merged into rs1554870758 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 10:113655465
(GRCh38)
10:115415224
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:113655452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1698/311
(Korea1K)
T=0.275/1377
(1000Genomes)
- HGVS:
NC_000010.11:g.113655465_113655468del, NC_000010.11:g.113655467_113655468del, NC_000010.11:g.113655468del, NC_000010.11:g.113655468dup, NC_000010.11:g.113655467_113655468dup, NC_000010.11:g.113655466_113655468dup, NC_000010.10:g.115415224_115415227del, NC_000010.10:g.115415226_115415227del, NC_000010.10:g.115415227del, NC_000010.10:g.115415227dup, NC_000010.10:g.115415226_115415227dup, NC_000010.10:g.115415225_115415227dup
3.
rs1491458469 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 10:113660051
(GRCh38)
10:115419810
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113660050:AA:
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0035/13
(TWINSUK)
-=0.0047/18
(ALSPAC)
- HGVS:
5.
rs1491357591 has merged into rs33990694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 10:113619633
(GRCh38)
10:115379392
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113619619:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1809/697
(ALSPAC)
- HGVS:
NC_000010.11:g.113619633_113619635del, NC_000010.11:g.113619634_113619635del, NC_000010.11:g.113619635del, NC_000010.11:g.113619635dup, NC_000010.11:g.113619634_113619635dup, NC_000010.11:g.113619633_113619635dup, NC_000010.11:g.113619631_113619635dup, NC_000010.10:g.115379392_115379394del, NC_000010.10:g.115379393_115379394del, NC_000010.10:g.115379394del, NC_000010.10:g.115379394dup, NC_000010.10:g.115379393_115379394dup, NC_000010.10:g.115379392_115379394dup, NC_000010.10:g.115379390_115379394dup
9.
rs1491255206 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 10:113663520
(GRCh38)
10:115423279
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113663519:TA:
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
10.
rs1491244214 has merged into rs59937257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:113637019
(GRCh38)
10:115396778
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113637006:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.2857/1431
(1000Genomes)
- HGVS:
NC_000010.11:g.113637019_113637029del, NC_000010.11:g.113637020_113637029del, NC_000010.11:g.113637021_113637029del, NC_000010.11:g.113637022_113637029del, NC_000010.11:g.113637023_113637029del, NC_000010.11:g.113637025_113637029del, NC_000010.11:g.113637026_113637029del, NC_000010.11:g.113637027_113637029del, NC_000010.11:g.113637028_113637029del, NC_000010.11:g.113637029del, NC_000010.11:g.113637029dup, NC_000010.11:g.113637028_113637029dup, NC_000010.11:g.113637027_113637029dup, NC_000010.11:g.113637025_113637029dup, NC_000010.10:g.115396778_115396788del, NC_000010.10:g.115396779_115396788del, NC_000010.10:g.115396780_115396788del, NC_000010.10:g.115396781_115396788del, NC_000010.10:g.115396782_115396788del, NC_000010.10:g.115396784_115396788del, NC_000010.10:g.115396785_115396788del, NC_000010.10:g.115396786_115396788del, NC_000010.10:g.115396787_115396788del, NC_000010.10:g.115396788del, NC_000010.10:g.115396788dup, NC_000010.10:g.115396787_115396788dup, NC_000010.10:g.115396786_115396788dup, NC_000010.10:g.115396784_115396788dup
12.
rs1491160074 has merged into rs60015356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:113644159
(GRCh38)
10:115403918
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113644147:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000010.11:g.113644159_113644169del, NC_000010.11:g.113644160_113644169del, NC_000010.11:g.113644161_113644169del, NC_000010.11:g.113644162_113644169del, NC_000010.11:g.113644163_113644169del, NC_000010.11:g.113644164_113644169del, NC_000010.11:g.113644165_113644169del, NC_000010.11:g.113644166_113644169del, NC_000010.11:g.113644167_113644169del, NC_000010.11:g.113644168_113644169del, NC_000010.11:g.113644169del, NC_000010.11:g.113644169dup, NC_000010.11:g.113644168_113644169dup, NC_000010.11:g.113644167_113644169dup, NC_000010.11:g.113644166_113644169dup, NC_000010.11:g.113644165_113644169dup, NC_000010.11:g.113644164_113644169dup, NC_000010.11:g.113644163_113644169dup, NC_000010.11:g.113644162_113644169dup, NC_000010.11:g.113644161_113644169dup, NC_000010.11:g.113644160_113644169dup, NC_000010.11:g.113644159_113644169dup, NC_000010.11:g.113644158_113644169dup, NC_000010.11:g.113644157_113644169dup, NC_000010.11:g.113644155_113644169dup, NC_000010.11:g.113644154_113644169dup, NC_000010.11:g.113644169_113644170insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113644169_113644170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113644169_113644170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113644169_113644170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115403918_115403928del, NC_000010.10:g.115403919_115403928del, NC_000010.10:g.115403920_115403928del, NC_000010.10:g.115403921_115403928del, NC_000010.10:g.115403922_115403928del, NC_000010.10:g.115403923_115403928del, NC_000010.10:g.115403924_115403928del, NC_000010.10:g.115403925_115403928del, NC_000010.10:g.115403926_115403928del, NC_000010.10:g.115403927_115403928del, NC_000010.10:g.115403928del, NC_000010.10:g.115403928dup, NC_000010.10:g.115403927_115403928dup, NC_000010.10:g.115403926_115403928dup, NC_000010.10:g.115403925_115403928dup, NC_000010.10:g.115403924_115403928dup, NC_000010.10:g.115403923_115403928dup, NC_000010.10:g.115403922_115403928dup, NC_000010.10:g.115403921_115403928dup, NC_000010.10:g.115403920_115403928dup, NC_000010.10:g.115403919_115403928dup, NC_000010.10:g.115403918_115403928dup, NC_000010.10:g.115403917_115403928dup, NC_000010.10:g.115403916_115403928dup, NC_000010.10:g.115403914_115403928dup, NC_000010.10:g.115403913_115403928dup, NC_000010.10:g.115403928_115403929insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115403928_115403929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115403928_115403929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115403928_115403929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491136280 has merged into rs5788033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 10:113621330
(GRCh38)
10:115381089
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:113621314:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
ACAC=0.4079/2043
(1000Genomes)
- HGVS:
NC_000010.11:g.113621316CA[7], NC_000010.11:g.113621316CA[8], NC_000010.11:g.113621316CA[9], NC_000010.11:g.113621316CA[10], NC_000010.11:g.113621316CA[11], NC_000010.11:g.113621316CA[12], NC_000010.11:g.113621316CA[14], NC_000010.11:g.113621316CA[15], NC_000010.11:g.113621316CA[16], NC_000010.11:g.113621316CA[17], NC_000010.11:g.113621316CA[18], NC_000010.10:g.115381075CA[7], NC_000010.10:g.115381075CA[8], NC_000010.10:g.115381075CA[9], NC_000010.10:g.115381075CA[10], NC_000010.10:g.115381075CA[11], NC_000010.10:g.115381075CA[12], NC_000010.10:g.115381075CA[14], NC_000010.10:g.115381075CA[15], NC_000010.10:g.115381075CA[16], NC_000010.10:g.115381075CA[17], NC_000010.10:g.115381075CA[18]
14.
rs1491133413 has merged into rs60509891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:113639101
(GRCh38)
10:115398860
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113639091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAA=0.0431/216
(1000Genomes)
- HGVS:
NC_000010.11:g.113639101_113639116del, NC_000010.11:g.113639103_113639116del, NC_000010.11:g.113639104_113639116del, NC_000010.11:g.113639105_113639116del, NC_000010.11:g.113639106_113639116del, NC_000010.11:g.113639107_113639116del, NC_000010.11:g.113639108_113639116del, NC_000010.11:g.113639109_113639116del, NC_000010.11:g.113639110_113639116del, NC_000010.11:g.113639111_113639116del, NC_000010.11:g.113639112_113639116del, NC_000010.11:g.113639113_113639116del, NC_000010.11:g.113639114_113639116del, NC_000010.11:g.113639115_113639116del, NC_000010.11:g.113639116del, NC_000010.11:g.113639116dup, NC_000010.11:g.113639115_113639116dup, NC_000010.11:g.113639114_113639116dup, NC_000010.11:g.113639113_113639116dup, NC_000010.11:g.113639112_113639116dup, NC_000010.11:g.113639111_113639116dup, NC_000010.11:g.113639110_113639116dup, NC_000010.11:g.113639107_113639116dup, NC_000010.11:g.113639101_113639116dup, NC_000010.11:g.113639100_113639116dup, NC_000010.11:g.113639099_113639116dup, NC_000010.11:g.113639097_113639116dup, NC_000010.10:g.115398860_115398875del, NC_000010.10:g.115398862_115398875del, NC_000010.10:g.115398863_115398875del, NC_000010.10:g.115398864_115398875del, NC_000010.10:g.115398865_115398875del, NC_000010.10:g.115398866_115398875del, NC_000010.10:g.115398867_115398875del, NC_000010.10:g.115398868_115398875del, NC_000010.10:g.115398869_115398875del, NC_000010.10:g.115398870_115398875del, NC_000010.10:g.115398871_115398875del, NC_000010.10:g.115398872_115398875del, NC_000010.10:g.115398873_115398875del, NC_000010.10:g.115398874_115398875del, NC_000010.10:g.115398875del, NC_000010.10:g.115398875dup, NC_000010.10:g.115398874_115398875dup, NC_000010.10:g.115398873_115398875dup, NC_000010.10:g.115398872_115398875dup, NC_000010.10:g.115398871_115398875dup, NC_000010.10:g.115398870_115398875dup, NC_000010.10:g.115398869_115398875dup, NC_000010.10:g.115398866_115398875dup, NC_000010.10:g.115398860_115398875dup, NC_000010.10:g.115398859_115398875dup, NC_000010.10:g.115398858_115398875dup, NC_000010.10:g.115398856_115398875dup
15.
rs1491089878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 10:113588961
(GRCh38)
10:115348721
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113588961:GGG:GGGG
- Gene:
- HABP2 (Varview), NRAP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000010.11:g.113588964dup, NC_000010.10:g.115348723dup, NG_008956.1:g.40946dup, NM_004132.5:c.*595dup, NM_004132.4:c.*595dup, NM_004132.3:c.*595dup, NM_001177660.3:c.*595dup, NM_001177660.2:c.*595dup, NM_001177660.1:c.*595dup, NM_006175.5:c.*13dup, NM_006175.4:c.*13dup, NM_198060.4:c.*13dup, NM_198060.3:c.*13dup, XM_006717870.3:c.*13dup, XM_006717870.2:c.*13dup, XM_006717870.1:c.*13dup, XM_005269864.3:c.*13dup, XM_005269864.2:c.*13dup, XM_005269864.1:c.*13dup, XM_011539832.3:c.*13dup, XM_011539832.2:c.*13dup, XM_011539832.1:c.*13dup, XM_005269865.3:c.*13dup, XM_005269865.2:c.*13dup, XM_005269865.1:c.*13dup, XM_005269867.3:c.*13dup, XM_005269867.2:c.*13dup, XM_005269867.1:c.*13dup, NM_001322945.2:c.*13dup, NM_001322945.1:c.*13dup, NM_001261463.2:c.*13dup, NM_001261463.1:c.*13dup, XM_024448029.2:c.*13dup, XM_024448029.1:c.*13dup, XM_047425253.1:c.*13dup
16.
rs1491056967 has merged into rs56238053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAGAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:113654519
(GRCh38)
10:115414278
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:113654507:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.113654519_113654525del, NC_000010.11:g.113654520_113654525del, NC_000010.11:g.113654521_113654525del, NC_000010.11:g.113654522_113654525del, NC_000010.11:g.113654523_113654525del, NC_000010.11:g.113654524_113654525del, NC_000010.11:g.113654525del, NC_000010.11:g.113654525dup, NC_000010.11:g.113654524_113654525dup, NC_000010.11:g.113654523_113654525dup, NC_000010.11:g.113654522_113654525dup, NC_000010.11:g.113654521_113654525dup, NC_000010.11:g.113654520_113654525dup, NC_000010.11:g.113654519_113654525dup, NC_000010.11:g.113654518_113654525dup, NC_000010.11:g.113654517_113654525dup, NC_000010.11:g.113654516_113654525dup, NC_000010.11:g.113654515_113654525dup, NC_000010.11:g.113654514_113654525dup, NC_000010.11:g.113654513_113654525dup, NC_000010.11:g.113654510_113654525dup, NC_000010.11:g.113654525_113654526insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113654525_113654526insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113654525_113654526insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113654525_113654526insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.113654508_113654525A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.11:g.113654508_113654525A[19]GAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.115414278_115414284del, NC_000010.10:g.115414279_115414284del, NC_000010.10:g.115414280_115414284del, NC_000010.10:g.115414281_115414284del, NC_000010.10:g.115414282_115414284del, NC_000010.10:g.115414283_115414284del, NC_000010.10:g.115414284del, NC_000010.10:g.115414284dup, NC_000010.10:g.115414283_115414284dup, NC_000010.10:g.115414282_115414284dup, NC_000010.10:g.115414281_115414284dup, NC_000010.10:g.115414280_115414284dup, NC_000010.10:g.115414279_115414284dup, NC_000010.10:g.115414278_115414284dup, NC_000010.10:g.115414277_115414284dup, NC_000010.10:g.115414276_115414284dup, NC_000010.10:g.115414275_115414284dup, NC_000010.10:g.115414274_115414284dup, NC_000010.10:g.115414273_115414284dup, NC_000010.10:g.115414272_115414284dup, NC_000010.10:g.115414269_115414284dup, NC_000010.10:g.115414284_115414285insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115414284_115414285insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115414284_115414285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115414284_115414285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.115414267_115414284A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.115414267_115414284A[19]GAAAAAAAAAAAAAAAAAAA[1]
17.
rs1491012688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 10:113632847
(GRCh38)
10:115392606
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113632834:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000010.11:113632834:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0.000071/1
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
18.
rs1490948247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:113653732
(GRCh38)
10:115413491
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113653731:G:A
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490909048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:113645452
(GRCh38)
10:115405211
(GRCh37)
- Canonical SPDI:
- NC_000010.11:113645451:T:C
- Gene:
- NRAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: