Links from Gene
Items: 1 to 20 of 798
1.
rs1489454366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:30244265
(GRCh38)
X:30262382
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30244264:C:G
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/3
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
2.
rs1487985036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:30244085
(GRCh38)
X:30262202
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30244084:C:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1486121812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:30240501
(GRCh38)
X:30258618
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30240500:T:G
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1485987762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:30241029
(GRCh38)
X:30259146
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241028:A:G
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1485522989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:30241393
(GRCh38)
X:30259510
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241392:T:C
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1483520127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:30243610
(GRCh38)
X:30261727
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30243609:C:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
7.
rs1482928934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:30244434
(GRCh38)
X:30262551
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30244433:C:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000048/5
(GnomAD)
- HGVS:
8.
rs1481572910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:30242238
(GRCh38)
X:30260355
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30242237:A:C
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
9.
rs1480257712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:30242809
(GRCh38)
X:30260926
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30242808:A:G
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
10.
rs1477144475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30243430
(GRCh38)
X:30261547
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30243429:G:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
A=0.00018/2
(TOMMO)
A=0.000684/2
(KOREAN)
- HGVS:
11.
rs1477054714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:30241828
(GRCh38)
X:30259945
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241827:A:G
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1476432996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:30242689
(GRCh38)
X:30260806
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30242688:A:G
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000005/1
(GnomAD_exomes)
G=0.000015/4
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
13.
rs1475982501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- X:30241390
(GRCh38)
X:30259507
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241389:A:G,NC_000023.11:30241389:A:T
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1475718368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:30241348
(GRCh38)
X:30259465
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241347:T:C
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(KOREAN)
C=0.000015/4
(TOPMED)
C=0.000405/5
(TOMMO)
- HGVS:
15.
rs1475208519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30242007
(GRCh38)
X:30260124
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30242006:G:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
16.
rs1474454440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30241551
(GRCh38)
X:30259668
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30241550:G:A
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
17.
rs1474321717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:30242797
(GRCh38)
X:30260914
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30242796:G:T
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
19.
rs1473445879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:30240120
(GRCh38)
X:30258237
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30240119:G:T
- Gene:
- MAGEB4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000224/1
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
20.
rs1471127739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30243796
(GRCh38)
X:30261913
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30243795:G:A
- Gene:
- MAGEB1 (Varview), MAGEB4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000048/5
(GnomAD)
A=0.000053/14
(TOPMED)
- HGVS: