Links from Gene
Items: 1 to 20 of 8385
2.
rs1491498048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 9:128437809
(GRCh38)
9:131200089
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128437809::CG
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CG=0.00017/2
(
ALFA)
CG=0.00008/4
(GnomAD)
- HGVS:
4.
rs1491426870 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:128424766
(GRCh38)
9:131187046
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128424766::C
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000223/26
(GnomAD)
- HGVS:
5.
rs1491422443 has merged into rs60806898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:128415982
(GRCh38)
9:131178261
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128415973:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.128415982_128415997del, NC_000009.12:g.128415984_128415997del, NC_000009.12:g.128415986_128415997del, NC_000009.12:g.128415987_128415997del, NC_000009.12:g.128415988_128415997del, NC_000009.12:g.128415989_128415997del, NC_000009.12:g.128415990_128415997del, NC_000009.12:g.128415991_128415997del, NC_000009.12:g.128415992_128415997del, NC_000009.12:g.128415994_128415997del, NC_000009.12:g.128415995_128415997del, NC_000009.12:g.128415996_128415997del, NC_000009.12:g.128415997del, NC_000009.12:g.128415997dup, NC_000009.12:g.128415996_128415997dup, NC_000009.12:g.128415995_128415997dup, NC_000009.12:g.128415994_128415997dup, NC_000009.12:g.128415993_128415997dup, NC_000009.12:g.128415992_128415997dup, NC_000009.12:g.128415991_128415997dup, NC_000009.12:g.128415988_128415997dup, NC_000009.12:g.128415997_128415998insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.131178261_131178276del, NC_000009.11:g.131178263_131178276del, NC_000009.11:g.131178265_131178276del, NC_000009.11:g.131178266_131178276del, NC_000009.11:g.131178267_131178276del, NC_000009.11:g.131178268_131178276del, NC_000009.11:g.131178269_131178276del, NC_000009.11:g.131178270_131178276del, NC_000009.11:g.131178271_131178276del, NC_000009.11:g.131178273_131178276del, NC_000009.11:g.131178274_131178276del, NC_000009.11:g.131178275_131178276del, NC_000009.11:g.131178276del, NC_000009.11:g.131178276dup, NC_000009.11:g.131178275_131178276dup, NC_000009.11:g.131178274_131178276dup, NC_000009.11:g.131178273_131178276dup, NC_000009.11:g.131178272_131178276dup, NC_000009.11:g.131178271_131178276dup, NC_000009.11:g.131178270_131178276dup, NC_000009.11:g.131178267_131178276dup, NC_000009.11:g.131178276_131178277insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491390290 has merged into rs767789425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:128424774
(GRCh38)
9:131187053
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128424765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.005/3
(NorthernSweden)
T=0.25/10
(GENOME_DK)
- HGVS:
NC_000009.12:g.128424774_128424780del, NC_000009.12:g.128424776_128424780del, NC_000009.12:g.128424777_128424780del, NC_000009.12:g.128424778_128424780del, NC_000009.12:g.128424779_128424780del, NC_000009.12:g.128424780del, NC_000009.12:g.128424780dup, NC_000009.12:g.128424779_128424780dup, NC_000009.12:g.128424778_128424780dup, NC_000009.11:g.131187053_131187059del, NC_000009.11:g.131187055_131187059del, NC_000009.11:g.131187056_131187059del, NC_000009.11:g.131187057_131187059del, NC_000009.11:g.131187058_131187059del, NC_000009.11:g.131187059del, NC_000009.11:g.131187059dup, NC_000009.11:g.131187058_131187059dup, NC_000009.11:g.131187057_131187059dup
7.
rs1491367807 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 9:128437816
(GRCh38)
9:131200095
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128437815:CG:
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.0004/9
(GnomAD)
- HGVS:
8.
rs1491357883 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT
[Show Flanks]
- Chromosome:
- 9:128437844
(GRCh38)
9:131200124
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128437844:GT:GTGT,NC_000009.12:128437844:GT:GTGTGT
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGT=0./0
(
ALFA)
GT=0.0003/19
(GnomAD)
- HGVS:
9.
rs1491315887 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:128412801
(GRCh38)
9:131175081
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128412801:G:GG
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
10.
rs1491251146 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 9:128437844
(GRCh38)
9:131200123
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128437843:CG:
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00004/0
(TOMMO)
-=0.0003/10
(GnomAD)
- HGVS:
12.
rs1491229087 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 9:128437816
(GRCh38)
9:131200096
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128437816::AT
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AT=0.02967/352
(
ALFA)
AT=0.00005/2
(GnomAD)
- HGVS:
13.
rs1491175483 has merged into rs199678681 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAAAA
[Show Flanks]
- Chromosome:
- 9:128408077
(GRCh38)
9:131170356
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128408075:AAA:A,NC_000009.12:128408075:AAA:AA,NC_000009.12:128408075:AAA:AAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0.00005/1
(
ALFA)
-=0.00439/22
(1000Genomes)
-=0.04336/79
(Korea1K)
-=0.04639/778
(TOMMO)
- HGVS:
14.
rs1491005706 has merged into rs72060189 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:128406465
(GRCh38)
9:131168744
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128406452:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.225/9
(GENOME_DK)
A=0.254593/1275
(1000Genomes)
- HGVS:
NC_000009.12:g.128406465_128406469del, NC_000009.12:g.128406466_128406469del, NC_000009.12:g.128406467_128406469del, NC_000009.12:g.128406468_128406469del, NC_000009.12:g.128406469del, NC_000009.12:g.128406469dup, NC_000009.12:g.128406468_128406469dup, NC_000009.12:g.128406467_128406469dup, NC_000009.12:g.128406466_128406469dup, NC_000009.12:g.128406464_128406469dup, NC_000009.12:g.128406463_128406469dup, NC_000009.11:g.131168744_131168748del, NC_000009.11:g.131168745_131168748del, NC_000009.11:g.131168746_131168748del, NC_000009.11:g.131168747_131168748del, NC_000009.11:g.131168748del, NC_000009.11:g.131168748dup, NC_000009.11:g.131168747_131168748dup, NC_000009.11:g.131168746_131168748dup, NC_000009.11:g.131168745_131168748dup, NC_000009.11:g.131168743_131168748dup, NC_000009.11:g.131168742_131168748dup
16.
rs1490934107 has merged into rs756133661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:128413085
(GRCh38)
9:131175364
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128413076:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000009.12:g.128413085_128413096del, NC_000009.12:g.128413090_128413096del, NC_000009.12:g.128413092_128413096del, NC_000009.12:g.128413093_128413096del, NC_000009.12:g.128413094_128413096del, NC_000009.12:g.128413095_128413096del, NC_000009.12:g.128413096del, NC_000009.12:g.128413096dup, NC_000009.12:g.128413095_128413096dup, NC_000009.12:g.128413094_128413096dup, NC_000009.12:g.128413093_128413096dup, NC_000009.12:g.128413092_128413096dup, NC_000009.12:g.128413091_128413096dup, NC_000009.11:g.131175364_131175375del, NC_000009.11:g.131175369_131175375del, NC_000009.11:g.131175371_131175375del, NC_000009.11:g.131175372_131175375del, NC_000009.11:g.131175373_131175375del, NC_000009.11:g.131175374_131175375del, NC_000009.11:g.131175375del, NC_000009.11:g.131175375dup, NC_000009.11:g.131175374_131175375dup, NC_000009.11:g.131175373_131175375dup, NC_000009.11:g.131175372_131175375dup, NC_000009.11:g.131175371_131175375dup, NC_000009.11:g.131175370_131175375dup
17.
rs1490840022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128418917
(GRCh38)
9:131181196
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128418916:C:T
- Gene:
- CERCAM (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490731021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:128404880
(GRCh38)
9:131167159
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128404879:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490617784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:128408099
(GRCh38)
9:131170378
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128408098:CC:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000068/18
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS: