Links from Gene
Items: 1 to 20 of 1106
2.
rs1489296397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:142202083
(GRCh38)
X:141289869
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202082:G:A
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487988702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:142205965
(GRCh38)
X:141293751
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142205964:C:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1487550957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:142205516
(GRCh38)
X:141293302
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142205515:G:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000064/17
(TOPMED)
...more- HGVS:
5.
rs1486120494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCC
[Show Flanks]
- Chromosome:
- X:142204373
(GRCh38)
X:141292160
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142204373:C:CCTCC
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCC=0./0
(
ALFA)
CCTC=0.00001/1
(GnomAD)
CCTC=0.000019/5
(TOPMED)
...more- HGVS:
6.
rs1485188691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:142203407
(GRCh38)
X:141291193
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142203406:C:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1485055563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:142202763
(GRCh38)
X:141290549
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202762:G:A
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.00001/1
(GnomAD)
...more- HGVS:
8.
rs1484021065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:142206206
(GRCh38)
X:141293992
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142206205:C:A
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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)
...more- HGVS:
10.
rs1483669556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:142201914
(GRCh38)
X:141289700
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142201913:C:A,NC_000023.11:142201913:C:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1482909469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- X:142204175
(GRCh38)
X:141291961
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142204172:CTCCT:CT
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000026/7
(TOPMED)
...more- HGVS:
13.
rs1482858663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:142205327
(GRCh38)
X:141293113
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142205326:C:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000015/4
(TOPMED)
...more- HGVS:
14.
rs1481786583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:142204043
(GRCh38)
X:141291829
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142204042:A:C
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1481148179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:142202601
(GRCh38)
X:141290387
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202600:A:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
16.
rs1479500391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:142206920
(GRCh38)
X:141294706
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142206919:T:G
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000019/2
(GnomAD)
...more- HGVS:
17.
rs1478889746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:142202258
(GRCh38)
X:141290044
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202257:T:C
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000019/2
(GnomAD)
...more- HGVS:
18.
rs1478173702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:142205121
(GRCh38)
X:141292907
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142205120:G:A
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000023/6
(TOPMED)
...more- HGVS:
19.
rs1478138672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:142202652
(GRCh38)
X:141290438
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202651:C:T
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
T=0.000045/1
(TOMMO)
T=0.000342/1
(KOREAN)
...more- HGVS:
20.
rs1477523592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:142202300
(GRCh38)
X:141290086
(GRCh37)
- Canonical SPDI:
- NC_000023.11:142202299:T:C,NC_000023.11:142202299:T:G
- Gene:
- MAGEC2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: