Links from Gene
Items: 1 to 20 of 1000
2.
rs1490438524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:49871941
(GRCh38)
3:49909374
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49871940:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490438106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:49869581
(GRCh38)
3:49907014
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49869580:G:C
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489946681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49869927
(GRCh38)
3:49907360
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49869926:G:A
- Gene:
- CAMKV (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:
5.
rs1489913154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:49868994
(GRCh38)
3:49906427
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49868993:G:T
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1489808010 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTGA
[Show Flanks]
- Chromosome:
- 3:49866028
(GRCh38)
3:49903462
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49866028::TTGA
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTGA=0./0
(
ALFA)
TTGA=0.000011/3
(TOPMED)
TTGA=0.000021/3
(GnomAD)
- HGVS:
7.
rs1489792870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49860135
(GRCh38)
3:49897568
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49860134:G:A
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489779453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:49860167
(GRCh38)
3:49897600
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49860166:T:C
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489441591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:49858784
(GRCh38)
3:49896217
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49858783:C:A
- Gene:
- CAMKV (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=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489224709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49863428
(GRCh38)
3:49900861
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49863427:C:T
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488751093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:49868975
(GRCh38)
3:49906408
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49868974:A:C,NC_000003.12:49868974:A:G
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
12.
rs1488693401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49858485
(GRCh38)
3:49895918
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49858484:G:A
- Gene:
- TRAIP (Varview), CAMKV (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
13.
rs1488098613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:49871671
(GRCh38)
3:49909104
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49871670:G:C
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487991002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49858110
(GRCh38)
3:49895543
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49858109:C:T
- Gene:
- TRAIP (Varview), CAMKV (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487661609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:49864385
(GRCh38)
3:49901818
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49864384:G:C
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1487333966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49863775
(GRCh38)
3:49901208
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49863774:C:T
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487305798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:49857755
(GRCh38)
3:49895188
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49857754:C:A,NC_000003.12:49857754:C:T
- Gene:
- TRAIP (Varview), CAMKV (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487215480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49871584
(GRCh38)
3:49909017
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49871583:G:A
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486713562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:49863650
(GRCh38)
3:49901083
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49863649:C:A
- Gene:
- CAMKV (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: