Links from Gene
Items: 1 to 20 of 22382
1.
rs1491583509 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:15350322
(GRCh38)
4:15351946
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15350321:AG:
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00004/2
(GnomAD)
- HGVS:
2.
rs1491583435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:15422200
(GRCh38)
4:15423825
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15422200:G:GG
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.00012/2
(
ALFA)
G=0.00045/2
(Estonian)
G=0.00059/37
(GnomAD)
- HGVS:
4.
rs1491449525 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:15422210
(GRCh38)
4:15423834
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15422209:TA:
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01602/190
(
ALFA)
-=0.00216/25
(TOMMO)
-=0.00512/6
(Korea1K)
-=0.05709/2771
(GnomAD)
- HGVS:
5.
rs1491409222 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TAA,TAAA,TTA
[Show Flanks]
- Chromosome:
- 4:15422210
(GRCh38)
4:15423835
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15422210::TA,NC_000004.12:15422210::TAA,NC_000004.12:15422210::TAAA,NC_000004.12:15422210::TTA
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
6.
rs1491394159 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGTGT,GTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:15339267
(GRCh38)
4:15340892
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15339267:T:TGT,NC_000004.12:15339267:T:TGTGTGT,NC_000004.12:15339267:T:TGTGTGTGT,NC_000004.12:15339267:T:TGTGTGTGTGTGTGT,NC_000004.12:15339267:T:TGTGTGTGTGTGTGTGTGT
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTG=0.000004/1
(TOPMED)
TGTGTGTGTGTGTGTGTG=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1491200621 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGGAGG
[Show Flanks]
- Chromosome:
- 4:15350322
(GRCh38)
4:15351947
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15350322:G:GAGGGAGG
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
GAGGGAG=0.00068/1
(Korea1K)
GAGGGAG=0.0037/46
(TOMMO)
GAGGGAG=0.01015/313
(GnomAD)
- HGVS:
11.
rs1491195396 has merged into rs577106584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 4:15422207
(GRCh38)
4:15423831
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15422201:TTTTTTTTT:TTTTT,NC_000004.12:15422201:TTTTTTTTT:TTTTTT,NC_000004.12:15422201:TTTTTTTTT:TTTTTTT,NC_000004.12:15422201:TTTTTTTTT:TTTTTTTT,NC_000004.12:15422201:TTTTTTTTT:TTTTTTTTTT,NC_000004.12:15422201:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
- HGVS:
NC_000004.12:g.15422207_15422210del, NC_000004.12:g.15422208_15422210del, NC_000004.12:g.15422209_15422210del, NC_000004.12:g.15422210del, NC_000004.12:g.15422210dup, NC_000004.12:g.15422209_15422210dup, NC_000004.11:g.15423831_15423834del, NC_000004.11:g.15423832_15423834del, NC_000004.11:g.15423833_15423834del, NC_000004.11:g.15423834del, NC_000004.11:g.15423834dup, NC_000004.11:g.15423833_15423834dup
12.
rs1491175655 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 4:15339266
(GRCh38)
4:15340890
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15339265:CC:
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
13.
rs1491155282 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTG
[Show Flanks]
- Chromosome:
- 4:15339270
(GRCh38)
4:15340895
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15339270:GTG:GTGCGTG
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGCGTG=0.00008/1
(
ALFA)
GTGC=0.00184/35
(GnomAD)
- HGVS:
14.
rs1491152874 has merged into rs58931762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:15440420
(GRCh38)
4:15442044
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:15440406:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C1QTNF7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4842/2425
(1000Genomes)
- HGVS:
NC_000004.12:g.15440420_15440425del, NC_000004.12:g.15440421_15440425del, NC_000004.12:g.15440422_15440425del, NC_000004.12:g.15440423_15440425del, NC_000004.12:g.15440424_15440425del, NC_000004.12:g.15440425del, NC_000004.12:g.15440425dup, NC_000004.12:g.15440424_15440425dup, NC_000004.12:g.15440423_15440425dup, NC_000004.12:g.15440422_15440425dup, NC_000004.12:g.15440416_15440425dup, NC_000004.11:g.15442044_15442049del, NC_000004.11:g.15442045_15442049del, NC_000004.11:g.15442046_15442049del, NC_000004.11:g.15442047_15442049del, NC_000004.11:g.15442048_15442049del, NC_000004.11:g.15442049del, NC_000004.11:g.15442049dup, NC_000004.11:g.15442048_15442049dup, NC_000004.11:g.15442047_15442049dup, NC_000004.11:g.15442046_15442049dup, NC_000004.11:g.15442040_15442049dup
15.
rs1491150081 has merged into rs71179625 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:15408289
(GRCh38)
4:15409913
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:15408275:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3888/1947
(1000Genomes)
- HGVS:
NC_000004.12:g.15408289_15408298del, NC_000004.12:g.15408290_15408298del, NC_000004.12:g.15408294_15408298del, NC_000004.12:g.15408295_15408298del, NC_000004.12:g.15408296_15408298del, NC_000004.12:g.15408297_15408298del, NC_000004.12:g.15408298del, NC_000004.12:g.15408298dup, NC_000004.12:g.15408297_15408298dup, NC_000004.12:g.15408296_15408298dup, NC_000004.12:g.15408295_15408298dup, NC_000004.12:g.15408294_15408298dup, NC_000004.12:g.15408292_15408298dup, NC_000004.11:g.15409913_15409922del, NC_000004.11:g.15409914_15409922del, NC_000004.11:g.15409918_15409922del, NC_000004.11:g.15409919_15409922del, NC_000004.11:g.15409920_15409922del, NC_000004.11:g.15409921_15409922del, NC_000004.11:g.15409922del, NC_000004.11:g.15409922dup, NC_000004.11:g.15409921_15409922dup, NC_000004.11:g.15409920_15409922dup, NC_000004.11:g.15409919_15409922dup, NC_000004.11:g.15409918_15409922dup, NC_000004.11:g.15409916_15409922dup
16.
rs1491131853 has merged into rs71179623 [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,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:15339292
(GRCh38)
4:15340916
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:15339269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.15339270TG[11], NC_000004.12:g.15339270TG[12], NC_000004.12:g.15339270TG[13], NC_000004.12:g.15339270TG[14], NC_000004.12:g.15339270TG[15], NC_000004.12:g.15339270TG[16], NC_000004.12:g.15339270TG[17], NC_000004.12:g.15339270TG[18], NC_000004.12:g.15339270TG[19], NC_000004.12:g.15339270TG[21], NC_000004.12:g.15339270TG[22], NC_000004.12:g.15339270TG[23], NC_000004.12:g.15339270TG[24], NC_000004.12:g.15339270TG[25], NC_000004.12:g.15339270TG[26], NC_000004.12:g.15339270TG[27], NC_000004.12:g.15339270TG[28], NC_000004.12:g.15339270TG[29], NC_000004.12:g.15339270TG[30], NC_000004.12:g.15339270TG[31], NC_000004.12:g.15339270TG[32], NC_000004.12:g.15339270TG[33], NC_000004.11:g.15340894TG[11], NC_000004.11:g.15340894TG[12], NC_000004.11:g.15340894TG[13], NC_000004.11:g.15340894TG[14], NC_000004.11:g.15340894TG[15], NC_000004.11:g.15340894TG[16], NC_000004.11:g.15340894TG[17], NC_000004.11:g.15340894TG[18], NC_000004.11:g.15340894TG[19], NC_000004.11:g.15340894TG[21], NC_000004.11:g.15340894TG[22], NC_000004.11:g.15340894TG[23], NC_000004.11:g.15340894TG[24], NC_000004.11:g.15340894TG[25], NC_000004.11:g.15340894TG[26], NC_000004.11:g.15340894TG[27], NC_000004.11:g.15340894TG[28], NC_000004.11:g.15340894TG[29], NC_000004.11:g.15340894TG[30], NC_000004.11:g.15340894TG[31], NC_000004.11:g.15340894TG[32], NC_000004.11:g.15340894TG[33]
17.
rs1491048737 has merged into rs11308911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:15381435
(GRCh38)
4:15383059
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:15381421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.15381435_15381436del, NC_000004.12:g.15381436del, NC_000004.12:g.15381436dup, NC_000004.12:g.15381435_15381436dup, NC_000004.12:g.15381434_15381436dup, NC_000004.12:g.15381433_15381436dup, NC_000004.12:g.15381432_15381436dup, NC_000004.12:g.15381426_15381436dup, NC_000004.11:g.15383059_15383060del, NC_000004.11:g.15383060del, NC_000004.11:g.15383060dup, NC_000004.11:g.15383059_15383060dup, NC_000004.11:g.15383058_15383060dup, NC_000004.11:g.15383057_15383060dup, NC_000004.11:g.15383056_15383060dup, NC_000004.11:g.15383050_15383060dup
18.
rs1490949222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:15371007
(GRCh38)
4:15372631
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15371006:T:G
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490933741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:15368140
(GRCh38)
4:15369764
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15368139:C:T
- Gene:
- C1QTNF7 (Varview), C1QTNF7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
20.
rs1490919694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
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- Chromosome:
- 4:15442852
(GRCh38)
4:15444476
(GRCh37)
- Canonical SPDI:
- NC_000004.12:15442851:A:C
- Gene:
- C1QTNF7 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000004.12:g.15442852A>C, NC_000004.11:g.15444476A>C, NM_031911.5:c.*53A>C, NM_031911.4:c.*53A>C, NM_001135171.2:c.*53A>C, NM_001135171.1:c.*53A>C, NM_001135170.2:c.*53A>C, NM_001135170.1:c.*53A>C, XM_011513773.2:c.*53A>C, XM_011513773.1:c.*53A>C, XM_011513772.2:c.*53A>C, XM_011513772.1:c.*53A>C, XM_047449566.1:c.*53A>C