Links from Gene
Items: 1 to 20 of 79120
4.
rs1491539469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTC
[Show Flanks]
- Chromosome:
- X:113133823
(GRCh38)
X:112377052
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113133823:CTC:CTCCCTC
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
CTCC=0.0009/1
(GnomAD)
- HGVS:
6.
rs1491526433 has merged into rs58824230 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:113307741
(GRCh38)
X:112550968
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:113307731:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0.0006/4
(
ALFA)
A=0.2283/862
(1000Genomes)
-=0.411/1524
(TWINSUK)
-=0.425/17
(GENOME_DK)
-=0.4251/1228
(ALSPAC)
- HGVS:
NC_000023.11:g.113307741_113307746del, NC_000023.11:g.113307745_113307746del, NC_000023.11:g.113307746del, NC_000023.11:g.113307746dup, NC_000023.11:g.113307745_113307746dup, NC_000023.11:g.113307744_113307746dup, NC_000023.11:g.113307743_113307746dup, NC_000023.11:g.113307742_113307746dup, NC_000023.11:g.113307741_113307746dup, NC_000023.11:g.113307739_113307746dup, NC_000023.11:g.113307737_113307746dup, NC_000023.11:g.113307735_113307746dup, NC_000023.10:g.112550968_112550973del, NC_000023.10:g.112550972_112550973del, NC_000023.10:g.112550973del, NC_000023.10:g.112550973dup, NC_000023.10:g.112550972_112550973dup, NC_000023.10:g.112550971_112550973dup, NC_000023.10:g.112550970_112550973dup, NC_000023.10:g.112550969_112550973dup, NC_000023.10:g.112550968_112550973dup, NC_000023.10:g.112550966_112550973dup, NC_000023.10:g.112550964_112550973dup, NC_000023.10:g.112550962_112550973dup
8.
rs1491523374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- X:113297481
(GRCh38)
X:112540708
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113297479:AAA:A,NC_000023.11:113297479:AAA:AA
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0011/18
(
ALFA)
-=0.00106/4
(1000Genomes)
-=0.00436/432
(GnomAD)
- HGVS:
9.
rs1491490527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:113173072
(GRCh38)
X:112416299
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113173063:ATATATATAT:ATATATAT
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATAT=0.00126/15
(
ALFA)
- HGVS:
10.
rs1491487924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTTTT
[Show Flanks]
- Chromosome:
- X:113169248
(GRCh38)
X:112412476
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113169248:TTTTTTT:TTTTTTTCTTTTTTT
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTTCTTTTTTT=0./0
(
ALFA)
- HGVS:
11.
rs1491487374 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- X:113273246
(GRCh38)
X:112516473
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113273245:CA:
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01197/142
(
ALFA)
-=0.00125/20
(GnomAD)
-=0.00451/100
(TOMMO)
- HGVS:
12.
rs1491478768 has merged into rs1159455878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- X:113438349
(GRCh38)
X:112681604
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113438339:ATATATATATA:ATATATATA,NC_000023.11:113438339:ATATATATATA:ATATATATATATA,NC_000023.11:113438339:ATATATATATA:ATATATATATATATA
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATA=0./0
(
ALFA)
AT=0.00005/1
(TOMMO)
- HGVS:
13.
rs1491473535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:113103095
(GRCh38)
X:112346324
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113103095:G:GG
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00009/9
(GnomAD)
- HGVS:
14.
rs1491473439 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- X:113046249
(GRCh38)
X:112289477
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113046248:GG:
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1491450557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATATATATATTATATATAT
[Show Flanks]
- Chromosome:
- X:113438340
(GRCh38)
X:112681596
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113438340:TATATATATAATATATATATTATATATAT:TATATATATAATATATATATTATATATATAATATATATATTATATATAT
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATAATATATATATTATATATATAATATATATATTATATATAT=0.00008/1
(
ALFA)
TATATATATAATATATATAT=0.00378/340
(GnomAD)
- HGVS:
17.
rs1491431213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTATATA
[Show Flanks]
- Chromosome:
- X:113093784
(GRCh38)
X:112337013
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113093784:GTATATA:GTATATACGTATATA
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTATATACGTATATA=0./0
(
ALFA)
- HGVS:
18.
rs1491426606 has merged into rs34928584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:113068126
(GRCh38)
X:112311354
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:113068114:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000023.11:g.113068126_113068139del, NC_000023.11:g.113068127_113068139del, NC_000023.11:g.113068130_113068139del, NC_000023.11:g.113068131_113068139del, NC_000023.11:g.113068132_113068139del, NC_000023.11:g.113068133_113068139del, NC_000023.11:g.113068134_113068139del, NC_000023.11:g.113068135_113068139del, NC_000023.11:g.113068136_113068139del, NC_000023.11:g.113068137_113068139del, NC_000023.11:g.113068138_113068139del, NC_000023.11:g.113068139del, NC_000023.11:g.113068139dup, NC_000023.11:g.113068138_113068139dup, NC_000023.11:g.113068137_113068139dup, NC_000023.11:g.113068135_113068139dup, NC_000023.11:g.113068134_113068139dup, NC_000023.11:g.113068133_113068139dup, NC_000023.11:g.113068126_113068139dup, NC_000023.10:g.112311354_112311367del, NC_000023.10:g.112311355_112311367del, NC_000023.10:g.112311358_112311367del, NC_000023.10:g.112311359_112311367del, NC_000023.10:g.112311360_112311367del, NC_000023.10:g.112311361_112311367del, NC_000023.10:g.112311362_112311367del, NC_000023.10:g.112311363_112311367del, NC_000023.10:g.112311364_112311367del, NC_000023.10:g.112311365_112311367del, NC_000023.10:g.112311366_112311367del, NC_000023.10:g.112311367del, NC_000023.10:g.112311367dup, NC_000023.10:g.112311366_112311367dup, NC_000023.10:g.112311365_112311367dup, NC_000023.10:g.112311363_112311367dup, NC_000023.10:g.112311362_112311367dup, NC_000023.10:g.112311361_112311367dup, NC_000023.10:g.112311354_112311367dup
19.
rs1491400555 has merged into rs111692853 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- X:113390125
(GRCh38)
X:112633352
(GRCh37)
- Canonical SPDI:
- NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:113390114:TTTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC101928437 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
-=0.427455/113143
(TOPMED)
-=0.430253/1243
(ALSPAC)
-=0.45658/1693
(TWINSUK)
-=0.481589/1818
(1000Genomes)
- HGVS: