Links from Gene
Items: 1 to 20 of 1000
1.
rs1491556088 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 10:22376635
(GRCh38)
10:22665564
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22376634:AT:
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0./0
(ALSPAC)
-=0.000057/8
(GnomAD)
-=0.00027/1
(TWINSUK)
- HGVS:
2.
rs1491381117 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCTTC,TCTTCTTC,TCTTCTTCTTC,TCTTCTTCTTCTTC,TCTTCTTCTTCTTCTTC,TCTTCTTCTTCTTCTTCTTC
[Show Flanks]
- Chromosome:
- 10:22346499
(GRCh38)
10:22635429
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22346499::TCTTC,NC_000010.11:22346499::TCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTCTTCTTC
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TCTTCTTCTTCTTC=0.00004/1
(TOMMO)
- HGVS:
NC_000010.11:g.22346499_22346500insTCTTC, NC_000010.11:g.22346499_22346500insTCTTCTTC, NC_000010.11:g.22346499_22346500insTCTTCTTCTTC, NC_000010.11:g.22346499_22346500insTCTTCTTCTTCTTC, NC_000010.11:g.22346499_22346500insTCTTCTTCTTCTTCTTC, NC_000010.11:g.22346499_22346500insTCTTCTTCTTCTTCTTCTTC, NC_000010.10:g.22635428_22635429insTCTTC, NC_000010.10:g.22635428_22635429insTCTTCTTC, NC_000010.10:g.22635428_22635429insTCTTCTTCTTC, NC_000010.10:g.22635428_22635429insTCTTCTTCTTCTTC, NC_000010.10:g.22635428_22635429insTCTTCTTCTTCTTCTTC, NC_000010.10:g.22635428_22635429insTCTTCTTCTTCTTCTTCTTC
3.
rs1491310263 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCTTC
[Show Flanks]
- Chromosome:
- 10:22346437
(GRCh38)
10:22635367
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22346437:TCTTC:TCTTCCTCTTC
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTTCCTCTTC=0./0
(
ALFA)
TCTTCC=0.000019/2
(GnomAD)
- HGVS:
4.
rs1491293007 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 10:22346437
(GRCh38)
10:22635366
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22346436:TT:
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000536/56
(GnomAD)
- HGVS:
7.
rs1490961782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22378391
(GRCh38)
10:22667320
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22378390:A:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
8.
rs1490951744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTCTTCTTCTTCTTCTTCT>-
[Show Flanks]
- Chromosome:
- 10:22346472
(GRCh38)
10:22635401
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22346470:TCTTCTTCTTCTTCTTCTTCT:T
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
9.
rs1490862555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22362448
(GRCh38)
10:22651377
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22362447:A:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
10.
rs1490850306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:22378965
(GRCh38)
10:22667894
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22378964:A:C
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1490758187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:22358112
(GRCh38)
10:22647041
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22358111:G:A
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000814/14
(TOMMO)
A=0.001369/4
(KOREAN)
A=0.002183/4
(Korea1K)
- HGVS:
12.
rs1490739982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 10:22405779
(GRCh38)
10:22694708
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22405778:G:C,NC_000010.11:22405778:G:T
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490730469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:22345705
(GRCh38)
10:22634634
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22345704:C:T
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1490694100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:22404894
(GRCh38)
10:22693823
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22404893:T:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490644638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:22387930
(GRCh38)
10:22676859
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22387929:C:T
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490641060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22400108
(GRCh38)
10:22689037
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22400107:A:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000447/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
17.
rs1490599803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 10:22355495
(GRCh38)
10:22644424
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22355494:T:C,NC_000010.11:22355494:T:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490538906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGAGTAAGTGA>-
[Show Flanks]
- Chromosome:
- 10:22361667
(GRCh38)
10:22650596
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22361662:GTGACAGAGTAAGTGA:GTGA
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGA=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
19.
rs1490506568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:22397856
(GRCh38)
10:22686785
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22397855:A:G
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
20.
rs1490386754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:22416316
(GRCh38)
10:22705245
(GRCh37)
- Canonical SPDI:
- NC_000010.11:22416315:G:C
- Gene:
- SPAG6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: