Links from Gene
Items: 1 to 20 of 2326
1.
rs1491477782 has merged into rs755725206 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:27770653
(GRCh38)
2:27993520
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27770641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.27770653_27770661del, NC_000002.12:g.27770654_27770661del, NC_000002.12:g.27770655_27770661del, NC_000002.12:g.27770656_27770661del, NC_000002.12:g.27770657_27770661del, NC_000002.12:g.27770658_27770661del, NC_000002.12:g.27770659_27770661del, NC_000002.12:g.27770660_27770661del, NC_000002.12:g.27770661del, NC_000002.12:g.27770661dup, NC_000002.12:g.27770660_27770661dup, NC_000002.12:g.27770659_27770661dup, NC_000002.12:g.27770658_27770661dup, NC_000002.12:g.27770657_27770661dup, NC_000002.12:g.27770656_27770661dup, NC_000002.12:g.27770655_27770661dup, NC_000002.12:g.27770642_27770661T[27]ATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.27770654_27770661dup, NC_000002.12:g.27770653_27770661dup, NC_000002.12:g.27770652_27770661dup, NC_000002.12:g.27770651_27770661dup, NC_000002.12:g.27770650_27770661dup, NC_000002.12:g.27770649_27770661dup, NC_000002.12:g.27770648_27770661dup, NC_000002.12:g.27770647_27770661dup, NC_000002.12:g.27770646_27770661dup, NC_000002.12:g.27770645_27770661dup, NC_000002.12:g.27770644_27770661dup, NC_000002.12:g.27770643_27770661dup, NC_000002.12:g.27770661_27770662insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.27770661_27770662insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27993520_27993528del, NC_000002.11:g.27993521_27993528del, NC_000002.11:g.27993522_27993528del, NC_000002.11:g.27993523_27993528del, NC_000002.11:g.27993524_27993528del, NC_000002.11:g.27993525_27993528del, NC_000002.11:g.27993526_27993528del, NC_000002.11:g.27993527_27993528del, NC_000002.11:g.27993528del, NC_000002.11:g.27993528dup, NC_000002.11:g.27993527_27993528dup, NC_000002.11:g.27993526_27993528dup, NC_000002.11:g.27993525_27993528dup, NC_000002.11:g.27993524_27993528dup, NC_000002.11:g.27993523_27993528dup, NC_000002.11:g.27993522_27993528dup, NC_000002.11:g.27993509_27993528T[27]ATACTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.27993521_27993528dup, NC_000002.11:g.27993520_27993528dup, NC_000002.11:g.27993519_27993528dup, NC_000002.11:g.27993518_27993528dup, NC_000002.11:g.27993517_27993528dup, NC_000002.11:g.27993516_27993528dup, NC_000002.11:g.27993515_27993528dup, NC_000002.11:g.27993514_27993528dup, NC_000002.11:g.27993513_27993528dup, NC_000002.11:g.27993512_27993528dup, NC_000002.11:g.27993511_27993528dup, NC_000002.11:g.27993510_27993528dup, NC_000002.11:g.27993528_27993529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27993528_27993529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491010055 has merged into rs67199907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:27775364
(GRCh38)
2:27998231
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27775350:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.27775364_27775369del, NC_000002.12:g.27775366_27775369del, NC_000002.12:g.27775367_27775369del, NC_000002.12:g.27775368_27775369del, NC_000002.12:g.27775369del, NC_000002.12:g.27775369dup, NC_000002.12:g.27775368_27775369dup, NC_000002.12:g.27775367_27775369dup, NC_000002.12:g.27775366_27775369dup, NC_000002.12:g.27775365_27775369dup, NC_000002.12:g.27775364_27775369dup, NC_000002.12:g.27775362_27775369dup, NC_000002.12:g.27775360_27775369dup, NC_000002.11:g.27998231_27998236del, NC_000002.11:g.27998233_27998236del, NC_000002.11:g.27998234_27998236del, NC_000002.11:g.27998235_27998236del, NC_000002.11:g.27998236del, NC_000002.11:g.27998236dup, NC_000002.11:g.27998235_27998236dup, NC_000002.11:g.27998234_27998236dup, NC_000002.11:g.27998233_27998236dup, NC_000002.11:g.27998232_27998236dup, NC_000002.11:g.27998231_27998236dup, NC_000002.11:g.27998229_27998236dup, NC_000002.11:g.27998227_27998236dup
4.
rs1490597904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27770473
(GRCh38)
2:27993340
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27770472:A:G
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490372243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:27776402
(GRCh38)
2:27999269
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27776401:T:C
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
6.
rs1490109681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27771644
(GRCh38)
2:27994511
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27771643:A:G
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1489756405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27770744
(GRCh38)
2:27993611
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27770743:G:A
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489413481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27778857
(GRCh38)
2:28001724
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27778856:C:T
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1489192473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:27771956
(GRCh38)
2:27994823
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27771955:C:G
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488827986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:27771258
(GRCh38)
2:27994125
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27771257:T:A
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1487867539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:27779493
(GRCh38)
2:28002360
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27779492:G:T
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- missense_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1487446959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27777929
(GRCh38)
2:28000796
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27777928:G:A
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1486703768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27774057
(GRCh38)
2:27996924
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27774056:G:A
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1485977002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27772685
(GRCh38)
2:27995552
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27772684:A:G
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1485816791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:27776238
(GRCh38)
2:27999105
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27776236:TTT:T
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
18.
rs1485689416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27770768
(GRCh38)
2:27993635
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27770767:G:A
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485592527 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:27772414
(GRCh38)
2:27995281
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27772413:G:
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1485526195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:27777228
(GRCh38)
2:28000095
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27777227:G:C
- Gene:
- MRPL33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS: