Links from Gene
Items: 1 to 20 of 576
1.
rs1488650568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12725325
(GRCh38)
10:12767324
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725324:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488468030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12726221
(GRCh38)
10:12768220
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12726220:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1485779006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:12727183
(GRCh38)
10:12769182
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12727182:G:A,NC_000010.11:12727182:G:C
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
C=0.000342/1
(KOREAN)
- HGVS:
5.
rs1482351153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:12725912
(GRCh38)
10:12767911
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725911:A:G
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1481397609 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 10:12724934
(GRCh38)
10:12766933
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12724933:GAG:
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479573410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12727047
(GRCh38)
10:12769046
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12727046:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
9.
rs1478793975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:12725344
(GRCh38)
10:12767343
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725343:A:G
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1478646119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12725032
(GRCh38)
10:12767031
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725031:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
11.
rs1477671019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12725956
(GRCh38)
10:12767955
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725955:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1475982242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 10:12726240
(GRCh38)
10:12768239
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12726239:A:C,NC_000010.11:12726239:A:G
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1475386767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:12727018
(GRCh38)
10:12769017
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12727017:G:C
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1474453201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:12726790
(GRCh38)
10:12768789
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12726789:T:C
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1472901675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12724846
(GRCh38)
10:12766845
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12724845:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
17.
rs1472651714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:12725340
(GRCh38)
10:12767339
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725339:C:T
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.00007/1
(GnomAD_exomes)
- HGVS:
18.
rs1472209314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:12725246
(GRCh38)
10:12767245
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725245:T:C
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,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:
19.
rs1470312281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:12725093
(GRCh38)
10:12767092
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12725092:G:A
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1470156697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:12726717
(GRCh38)
10:12768716
(GRCh37)
- Canonical SPDI:
- NC_000010.11:12726716:T:C
- Gene:
- CAMK1D (Varview), MIR548Q (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: