Links from Gene
Items: 1 to 20 of 3461
1.
rs1491563301 has merged into rs55912158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:176325066
(GRCh38)
4:177246217
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3/12
(GENOME_DK)
- HGVS:
NC_000004.12:g.176325066_176325068del, NC_000004.12:g.176325067_176325068del, NC_000004.12:g.176325068del, NC_000004.12:g.176325068dup, NC_000004.12:g.176325067_176325068dup, NC_000004.12:g.176325066_176325068dup, NC_000004.12:g.176325064_176325068dup, NC_000004.12:g.176325061_176325068dup, NC_000004.11:g.177246217_177246219del, NC_000004.11:g.177246218_177246219del, NC_000004.11:g.177246219del, NC_000004.11:g.177246219dup, NC_000004.11:g.177246218_177246219dup, NC_000004.11:g.177246217_177246219dup, NC_000004.11:g.177246215_177246219dup, NC_000004.11:g.177246212_177246219dup
2.
rs1491530136 has merged into rs55912158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:176325066
(GRCh38)
4:177246217
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176325052:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3/12
(GENOME_DK)
- HGVS:
NC_000004.12:g.176325066_176325068del, NC_000004.12:g.176325067_176325068del, NC_000004.12:g.176325068del, NC_000004.12:g.176325068dup, NC_000004.12:g.176325067_176325068dup, NC_000004.12:g.176325066_176325068dup, NC_000004.12:g.176325064_176325068dup, NC_000004.12:g.176325061_176325068dup, NC_000004.11:g.177246217_177246219del, NC_000004.11:g.177246218_177246219del, NC_000004.11:g.177246219del, NC_000004.11:g.177246219dup, NC_000004.11:g.177246218_177246219dup, NC_000004.11:g.177246217_177246219dup, NC_000004.11:g.177246215_177246219dup, NC_000004.11:g.177246212_177246219dup
3.
rs1491513198 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:176328437
(GRCh38)
4:177249589
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176328437::G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000016/1
(GnomAD)
- HGVS:
4.
rs1491446979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:176318649
(GRCh38)
4:177239800
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176318647:TCT:T
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.074439/883
(
ALFA)
-=0.001557/24
(TOMMO)
-=0.010033/6
(NorthernSweden)
-=0.106621/10902
(GnomAD)
- HGVS:
5.
rs1491314859 has merged into rs142182358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:176318647
(GRCh38)
4:177239798
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176318640:TTTTTTTT:TTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176318640:TTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0.00044/7
(
ALFA)
T=0.00573/80
(TOMMO)
T=0.0089/57
(1000Genomes)
T=0.05/2
(GENOME_DK)
-=0.17955/692
(ALSPAC)
- HGVS:
NC_000004.12:g.176318647_176318648del, NC_000004.12:g.176318648del, NC_000004.12:g.176318648dup, NC_000004.12:g.176318647_176318648dup, NC_000004.12:g.176318646_176318648dup, NC_000004.12:g.176318645_176318648dup, NC_000004.12:g.176318644_176318648dup, NC_000004.12:g.176318648_176318649insTTTTTTTTTT, NC_000004.12:g.176318648_176318649insTTTTTTTTTTT, NC_000004.11:g.177239798_177239799del, NC_000004.11:g.177239799del, NC_000004.11:g.177239799dup, NC_000004.11:g.177239798_177239799dup, NC_000004.11:g.177239797_177239799dup, NC_000004.11:g.177239796_177239799dup, NC_000004.11:g.177239795_177239799dup, NC_000004.11:g.177239799_177239800insTTTTTTTTTT, NC_000004.11:g.177239799_177239800insTTTTTTTTTTT
6.
rs1491095157 has merged into rs55821823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:176328448
(GRCh38)
4:177249599
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176328436:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.17173/860
(1000Genomes)
-=0.23586/909
(ALSPAC)
- HGVS:
NC_000004.12:g.176328448_176328455del, NC_000004.12:g.176328449_176328455del, NC_000004.12:g.176328450_176328455del, NC_000004.12:g.176328452_176328455del, NC_000004.12:g.176328453_176328455del, NC_000004.12:g.176328454_176328455del, NC_000004.12:g.176328455del, NC_000004.12:g.176328455dup, NC_000004.12:g.176328437_176328455T[20]GTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.176328454_176328455dup, NC_000004.12:g.176328453_176328455dup, NC_000004.12:g.176328452_176328455dup, NC_000004.12:g.176328451_176328455dup, NC_000004.12:g.176328450_176328455dup, NC_000004.12:g.176328438_176328455dup, NC_000004.11:g.177249599_177249606del, NC_000004.11:g.177249600_177249606del, NC_000004.11:g.177249601_177249606del, NC_000004.11:g.177249603_177249606del, NC_000004.11:g.177249604_177249606del, NC_000004.11:g.177249605_177249606del, NC_000004.11:g.177249606del, NC_000004.11:g.177249606dup, NC_000004.11:g.177249588_177249606T[20]GTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.177249605_177249606dup, NC_000004.11:g.177249604_177249606dup, NC_000004.11:g.177249603_177249606dup, NC_000004.11:g.177249602_177249606dup, NC_000004.11:g.177249601_177249606dup, NC_000004.11:g.177249589_177249606dup, NM_021928.4:c.*118_*125del, NM_021928.4:c.*119_*125del, NM_021928.4:c.*120_*125del, NM_021928.4:c.*122_*125del, NM_021928.4:c.*123_*125del, NM_021928.4:c.*124_*125del, NM_021928.4:c.*125del, NM_021928.4:c.*125dup, NM_021928.4:c.*107_*125T[20]GTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT[1], NM_021928.4:c.*124_*125dup, NM_021928.4:c.*123_*125dup, NM_021928.4:c.*122_*125dup, NM_021928.4:c.*121_*125dup, NM_021928.4:c.*120_*125dup, NM_021928.4:c.*108_*125dup, NM_021928.3:c.*118_*125del, NM_021928.3:c.*119_*125del, NM_021928.3:c.*120_*125del, NM_021928.3:c.*122_*125del, NM_021928.3:c.*123_*125del, NM_021928.3:c.*124_*125del, NM_021928.3:c.*125del, NM_021928.3:c.*125dup, NM_021928.3:c.*107_*125T[20]GTTTTTTTTTTTGGTTTTGGTTTTTTTTTTTTTTTTTTTT[1], NM_021928.3:c.*124_*125dup, NM_021928.3:c.*123_*125dup, NM_021928.3:c.*122_*125dup, NM_021928.3:c.*121_*125dup, NM_021928.3:c.*120_*125dup, NM_021928.3:c.*108_*125dup
7.
rs1491067013 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:176328442
(GRCh38)
4:177249594
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176328442::G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
8.
rs1491018691 has merged into rs71597446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:176325575
(GRCh38)
4:177246726
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:176325561:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.09291/55
(NorthernSweden)
- HGVS:
NC_000004.12:g.176325575_176325578del, NC_000004.12:g.176325576_176325578del, NC_000004.12:g.176325577_176325578del, NC_000004.12:g.176325578del, NC_000004.12:g.176325578dup, NC_000004.12:g.176325577_176325578dup, NC_000004.12:g.176325576_176325578dup, NC_000004.12:g.176325575_176325578dup, NC_000004.12:g.176325572_176325578dup, NC_000004.11:g.177246726_177246729del, NC_000004.11:g.177246727_177246729del, NC_000004.11:g.177246728_177246729del, NC_000004.11:g.177246729del, NC_000004.11:g.177246729dup, NC_000004.11:g.177246728_177246729dup, NC_000004.11:g.177246727_177246729dup, NC_000004.11:g.177246726_177246729dup, NC_000004.11:g.177246723_177246729dup
9.
rs1490936324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:176320745
(GRCh38)
4:177241896
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176320744:A:G,NC_000004.12:176320744:A:T
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490911076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:176324140
(GRCh38)
4:177245291
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176324139:A:G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.00001/1
(GnomAD_exomes)
- HGVS:
11.
rs1490835635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:176318125
(GRCh38)
4:177239276
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176318124:C:T
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490769626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:176319226
(GRCh38)
4:177240377
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176319225:G:A,NC_000004.12:176319225:G:C
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490554506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:176326080
(GRCh38)
4:177247231
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176326079:A:G
- Gene:
- SPCS3 (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:
15.
rs1490121561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:176321750
(GRCh38)
4:177242901
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176321749:C:G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000142/2
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490094481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:176328249
(GRCh38)
4:177249400
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176328248:T:G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000047/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1489957333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:176323128
(GRCh38)
4:177244279
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176323127:A:G
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489953739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:176318731
(GRCh38)
4:177239882
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176318730:A:G
- Gene:
- SPCS3 (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=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489926441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:176320715
(GRCh38)
4:177241866
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176320711:TGTGT:TGT
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
20.
rs1489771242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:176323492
(GRCh38)
4:177244643
(GRCh37)
- Canonical SPDI:
- NC_000004.12:176323491:A:T
- Gene:
- SPCS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: