Links from Gene
Items: 1 to 20 of 1435
1.
rs1490469935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:138946015
(GRCh38)
3:138664857
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138946014:G:A,NC_000003.12:138946014:G:C
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
NC_000003.12:g.138946015G>A, NC_000003.12:g.138946015G>C, NC_000003.11:g.138664857G>A, NC_000003.11:g.138664857G>C, NG_029796.1:g.3782G>A, NG_029796.1:g.3782G>C, NG_012454.1:g.6126C>T, NG_012454.1:g.6126C>G, NM_023067.4:c.708C>T, NM_023067.4:c.708C>G, NM_023067.3:c.708C>T, NM_023067.3:c.708C>G
2.
rs1490404701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:138947065
(GRCh38)
3:138665907
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138947064:C:T
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489606118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:138945958
(GRCh38)
3:138664800
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138945957:G:A
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489059671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:138949032
(GRCh38)
3:138667874
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138949031:T:C
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488648712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:138945192
(GRCh38)
3:138664034
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138945191:G:T
- Gene:
- FOXL2 (Varview), LINC01391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1487913229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:138946990
(GRCh38)
3:138665832
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138946989:C:A,NC_000003.12:138946989:C:T
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.138946990C>A, NC_000003.12:g.138946990C>T, NC_000003.11:g.138665832C>A, NC_000003.11:g.138665832C>T, NG_029796.1:g.4757C>A, NG_029796.1:g.4757C>T, NG_012454.1:g.5151G>T, NG_012454.1:g.5151G>A, NM_023067.4:c.-268G>T, NM_023067.4:c.-268G>A, NM_023067.3:c.-268G>T, NM_023067.3:c.-268G>A
7.
rs1487840393 has merged into rs1057516173 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGCTGCAGCCGCAGCTGCTGCAGCCGC>-,GGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC
[Show Flanks]
- Chromosome:
- 3:138946024
(GRCh38)
3:138664866
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138946019:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC:CCGC,NC_000003.12:138946019:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
- Functional Consequence:
- inframe_deletion,upstream_transcript_variant,inframe_insertion,coding_sequence_variant,2KB_upstream_variant
- Clinical significance:
- pathogenic
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000003.12:g.138946024_138946050del, NC_000003.12:g.138946021_138946050dup, NC_000003.11:g.138664866_138664892del, NC_000003.11:g.138664863_138664892dup, NG_029796.1:g.3791_3817del, NG_029796.1:g.3788_3817dup, NG_012454.1:g.6095_6121del, NG_012454.1:g.6092_6121dup, NM_023067.4:c.677_703del, NM_023067.4:c.674_703dup, NM_023067.3:c.677_703del, NM_023067.3:c.674_703dup, NP_075555.1:p.Ala226_Ala234del, NP_075555.1:p.Ala225_Ala234dup
8.
rs1487527950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:138946465
(GRCh38)
3:138665307
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138946464:C:G,NC_000003.12:138946464:C:T
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000003.12:g.138946465C>G, NC_000003.12:g.138946465C>T, NC_000003.11:g.138665307C>G, NC_000003.11:g.138665307C>T, NG_029796.1:g.4232C>G, NG_029796.1:g.4232C>T, NG_012454.1:g.5676G>C, NG_012454.1:g.5676G>A, NM_023067.4:c.258G>C, NM_023067.4:c.258G>A, NM_023067.3:c.258G>C, NM_023067.3:c.258G>A
9.
rs1487412397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:138948261
(GRCh38)
3:138667103
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138948260:C:G
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
10.
rs1487216057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:138944528
(GRCh38)
3:138663370
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138944527:C:T
- Gene:
- FOXL2 (Varview), LINC01391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487037472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:138947371
(GRCh38)
3:138666213
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138947370:A:G
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- HGVS:
NC_000003.12:g.138947371A>G, NC_000003.11:g.138666213A>G, NG_029796.1:g.5138A>G, NM_001040061.3:c.7A>G, NM_001040061.2:c.7A>G, NG_012454.1:g.4770T>C, XM_005247443.4:c.-154A>G, XM_005247443.3:c.-154A>G, XM_024453517.2:c.-253A>G, XM_024453517.1:c.-253A>G, XM_024453518.2:c.-336A>G, XM_024453518.1:c.-336A>G, NP_001035150.1:p.Arg3Gly
13.
rs1486990862 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCAGCTATTGCACTAACACAGGCGGG>-
[Show Flanks]
- Chromosome:
- 3:138947855
(GRCh38)
3:138666697
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138947854:TCAGCTATTGCACTAACACAGGCGGG:
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000253/3
(
ALFA)
-=0.000242/34
(GnomAD)
- HGVS:
14.
rs1486225463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAA>-
[Show Flanks]
- Chromosome:
- 3:138944059
(GRCh38)
3:138662901
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138944052:AAACAAACAA:AAACAA
- Gene:
- FOXL2 (Varview), LINC01391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAACAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1484383823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:138948828
(GRCh38)
3:138667671
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138948828:A:AA
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484350767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 3:138948137
(GRCh38)
3:138666979
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138948134:CTCCT:CT
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
17.
rs1483713798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:138945019
(GRCh38)
3:138663861
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138945018:C:A,NC_000003.12:138945018:C:T
- Gene:
- FOXL2 (Varview), LINC01391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
NC_000003.12:g.138945019C>A, NC_000003.12:g.138945019C>T, NC_000003.11:g.138663861C>A, NC_000003.11:g.138663861C>T, NG_029796.1:g.2786C>A, NG_029796.1:g.2786C>T, NG_012454.1:g.7122G>T, NG_012454.1:g.7122G>A, NM_023067.4:c.*573G>T, NM_023067.4:c.*573G>A, NM_023067.3:c.*573G>T, NM_023067.3:c.*573G>A
18.
rs1483177689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:138947407
(GRCh38)
3:138666249
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138947406:C:A
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000028/1
(
ALFA)
A=0.000122/18
(GnomAD_exomes)
A=0.000291/77
(TOPMED)
A=0.000356/50
(GnomAD)
- HGVS:
NC_000003.12:g.138947407C>A, NC_000003.11:g.138666249C>A, NG_029796.1:g.5174C>A, NM_001040061.3:c.43C>A, NM_001040061.2:c.43C>A, NG_012454.1:g.4734G>T, XM_005247443.4:c.-118C>A, XM_005247443.3:c.-118C>A, XM_024453517.2:c.-217C>A, XM_024453517.1:c.-217C>A, XM_024453518.2:c.-300C>A, XM_024453518.1:c.-300C>A, NP_001035150.1:p.Pro15Thr
19.
rs1483061317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:138944199
(GRCh38)
3:138663041
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138944198:A:G
- Gene:
- FOXL2 (Varview), LINC01391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1482488190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:138946442
(GRCh38)
3:138665284
(GRCh37)
- Canonical SPDI:
- NC_000003.12:138946441:T:C
- Gene:
- FOXL2 (Varview), FOXL2NB (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS: