Links from Gene
Items: 1 to 20 of 69921
1.
rs1491587477 has merged into rs34070479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 6:25338563
(GRCh38)
6:25338791
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.25338563_25338567del, NC_000006.12:g.25338564_25338567del, NC_000006.12:g.25338565_25338567del, NC_000006.12:g.25338566_25338567del, NC_000006.12:g.25338567del, NC_000006.12:g.25338567dup, NC_000006.12:g.25338566_25338567dup, NC_000006.12:g.25338565_25338567dup, NC_000006.11:g.25338791_25338795del, NC_000006.11:g.25338792_25338795del, NC_000006.11:g.25338793_25338795del, NC_000006.11:g.25338794_25338795del, NC_000006.11:g.25338795del, NC_000006.11:g.25338795dup, NC_000006.11:g.25338794_25338795dup, NC_000006.11:g.25338793_25338795dup
3.
rs1491567854 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:25403099
(GRCh38)
6:25403327
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25403098:TA:
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.000132/16
(GnomAD)
- HGVS:
5.
rs1491543819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCT
[Show Flanks]
- Chromosome:
- 6:25485020
(GRCh38)
6:25485249
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25485020:T:TCTCT
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
TCTC=0.000004/1
(TOPMED)
TCTC=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491523291 has merged into rs750169275 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:25458496
(GRCh38)
6:25458724
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25458485:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.25458496_25458508del, NC_000006.12:g.25458497_25458508del, NC_000006.12:g.25458498_25458508del, NC_000006.12:g.25458500_25458508del, NC_000006.12:g.25458505_25458508del, NC_000006.12:g.25458506_25458508del, NC_000006.12:g.25458507_25458508del, NC_000006.12:g.25458508del, NC_000006.12:g.25458508dup, NC_000006.12:g.25458507_25458508dup, NC_000006.12:g.25458506_25458508dup, NC_000006.12:g.25458505_25458508dup, NC_000006.12:g.25458504_25458508dup, NC_000006.12:g.25458503_25458508dup, NC_000006.12:g.25458502_25458508dup, NC_000006.12:g.25458500_25458508dup, NC_000006.12:g.25458486_25458508A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.25458724_25458736del, NC_000006.11:g.25458725_25458736del, NC_000006.11:g.25458726_25458736del, NC_000006.11:g.25458728_25458736del, NC_000006.11:g.25458733_25458736del, NC_000006.11:g.25458734_25458736del, NC_000006.11:g.25458735_25458736del, NC_000006.11:g.25458736del, NC_000006.11:g.25458736dup, NC_000006.11:g.25458735_25458736dup, NC_000006.11:g.25458734_25458736dup, NC_000006.11:g.25458733_25458736dup, NC_000006.11:g.25458732_25458736dup, NC_000006.11:g.25458731_25458736dup, NC_000006.11:g.25458730_25458736dup, NC_000006.11:g.25458728_25458736dup, NC_000006.11:g.25458714_25458736A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
8.
rs1491513072 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:25458485
(GRCh38)
6:25458713
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25458484:CA:
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00295/35
(
ALFA)
-=0.00492/82
(TOMMO)
- HGVS:
9.
rs1491512353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:25459266
(GRCh38)
6:25459494
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25459264:TCT:T
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.011297/134
(
ALFA)
-=0.000037/1
(TOMMO)
-=0.000158/18
(GnomAD)
- HGVS:
10.
rs1491503832 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:25357904
(GRCh38)
6:25358132
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25357903:CA:
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491500474 has merged into rs1554148590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 6:25281152
(GRCh38)
6:25281380
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:25281136:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.25281138AC[7], NC_000006.12:g.25281138AC[8], NC_000006.12:g.25281138AC[9], NC_000006.12:g.25281138AC[10], NC_000006.12:g.25281138AC[11], NC_000006.12:g.25281138AC[12], NC_000006.12:g.25281138AC[13], NC_000006.12:g.25281138AC[14], NC_000006.12:g.25281138AC[15], NC_000006.12:g.25281138AC[17], NC_000006.12:g.25281138AC[18], NC_000006.12:g.25281138AC[19], NC_000006.12:g.25281138AC[20], NC_000006.12:g.25281138AC[21], NC_000006.12:g.25281138AC[22], NC_000006.12:g.25281138AC[23], NC_000006.12:g.25281138AC[24], NC_000006.11:g.25281366AC[7], NC_000006.11:g.25281366AC[8], NC_000006.11:g.25281366AC[9], NC_000006.11:g.25281366AC[10], NC_000006.11:g.25281366AC[11], NC_000006.11:g.25281366AC[12], NC_000006.11:g.25281366AC[13], NC_000006.11:g.25281366AC[14], NC_000006.11:g.25281366AC[15], NC_000006.11:g.25281366AC[17], NC_000006.11:g.25281366AC[18], NC_000006.11:g.25281366AC[19], NC_000006.11:g.25281366AC[20], NC_000006.11:g.25281366AC[21], NC_000006.11:g.25281366AC[22], NC_000006.11:g.25281366AC[23], NC_000006.11:g.25281366AC[24]
13.
rs1491488337 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:25373590
(GRCh38)
6:25373819
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25373590::C
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00059/7
(
ALFA)
C=0.00069/70
(GnomAD)
- HGVS:
14.
rs1491486941 has merged into rs34070479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 6:25338563
(GRCh38)
6:25338791
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:25338551:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.25338563_25338567del, NC_000006.12:g.25338564_25338567del, NC_000006.12:g.25338565_25338567del, NC_000006.12:g.25338566_25338567del, NC_000006.12:g.25338567del, NC_000006.12:g.25338567dup, NC_000006.12:g.25338566_25338567dup, NC_000006.12:g.25338565_25338567dup, NC_000006.11:g.25338791_25338795del, NC_000006.11:g.25338792_25338795del, NC_000006.11:g.25338793_25338795del, NC_000006.11:g.25338794_25338795del, NC_000006.11:g.25338795del, NC_000006.11:g.25338795dup, NC_000006.11:g.25338794_25338795dup, NC_000006.11:g.25338793_25338795dup
15.
rs1491485047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA,CAACA,CAACAACA,CAACAACAACA,CAACAACAACAACA
[Show Flanks]
- Chromosome:
- 6:25546670
(GRCh38)
6:25546899
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25546670:A:ACA,NC_000006.12:25546670:A:ACAACA,NC_000006.12:25546670:A:ACAACAACA,NC_000006.12:25546670:A:ACAACAACAACA,NC_000006.12:25546670:A:ACAACAACAACAACA
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAACA=0./0
(
ALFA)
ACAACAAC=0.000004/1
(TOPMED)
- HGVS:
17.
rs1491479596 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:25340778
(GRCh38)
6:25341007
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25340778:TTTTTTTTT:TTTTTTTTTGTTTTTTTTT
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTGTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTG=0.000004/1
(TOPMED)
TTTTTTTTTG=0.000217/2
(GnomAD)
- HGVS:
18.
rs1491469076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGTGAACCAACCCA
[Show Flanks]
- Chromosome:
- 6:25421606
(GRCh38)
6:25421835
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25421606:A:ATTGTGAACCAACCCA
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATTGTGAACCAACCCA=0./0
(
ALFA)
ATTGTGAACCAACCC=0.000004/1
(TOPMED)
- HGVS:
19.
rs1491465065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTC
[Show Flanks]
- Chromosome:
- 6:25459215
(GRCh38)
6:25459444
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25459215:TTC:TTCCTTC
- Gene:
- CARMIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTCC=0.00002/1
(GnomAD)
- HGVS:
20.
rs1491464109 has merged into rs1441062522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 6:25332789
(GRCh38)
6:25333017
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25332775:CACACACACACACACAC:CACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000006.12:25332775:CACACACACACACACAC:CACACACACACACACACACACACACACACAC
- Gene:
- CARMIL1 (Varview), LOC124901281 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.25332777AC[6], NC_000006.12:g.25332777AC[7], NC_000006.12:g.25332777AC[9], NC_000006.12:g.25332777AC[10], NC_000006.12:g.25332777AC[11], NC_000006.12:g.25332777AC[12], NC_000006.12:g.25332777AC[13], NC_000006.12:g.25332777AC[14], NC_000006.12:g.25332777AC[15], NC_000006.11:g.25333005AC[6], NC_000006.11:g.25333005AC[7], NC_000006.11:g.25333005AC[9], NC_000006.11:g.25333005AC[10], NC_000006.11:g.25333005AC[11], NC_000006.11:g.25333005AC[12], NC_000006.11:g.25333005AC[13], NC_000006.11:g.25333005AC[14], NC_000006.11:g.25333005AC[15]