Links from Gene
Items: 1 to 20 of 2143
1.
rs1490435844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:18481782
(GRCh38)
1:18808276
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18481781:C:A,NC_000001.11:18481781:C:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
2.
rs1490172618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:18480257
(GRCh38)
1:18806751
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18480256:G:A
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.00003/8
(TOPMED)
...more- HGVS:
3.
rs1489972211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:18481763
(GRCh38)
1:18808257
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18481762:C:G
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489899326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:18486375
(GRCh38)
1:18812869
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18486374:C:G
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
...more- HGVS:
5.
rs1489261657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:18483077
(GRCh38)
1:18809571
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18483076:C:G
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1489159229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:18484387
(GRCh38)
1:18810881
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18484386:C:G
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
...more- HGVS:
7.
rs1489128094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:18484803
(GRCh38)
1:18811297
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18484802:G:A
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
...more- HGVS:
8.
rs1487515069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:18479718
(GRCh38)
1:18806212
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18479717:C:G
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486433289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:18482008
(GRCh38)
1:18808502
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18482007:G:A
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
10.
rs1486038498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:18479603
(GRCh38)
1:18806097
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18479602:T:C
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
...more- HGVS:
11.
rs1485964913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:18485150
(GRCh38)
1:18811644
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18485149:G:A
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000216/4
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000893/4
(Estonian)
...more- HGVS:
12.
rs1485776911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:18481302
(GRCh38)
1:18807796
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18481301:C:A,NC_000001.11:18481301:C:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
...more- HGVS:
13.
rs1485101175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:18485308
(GRCh38)
1:18811802
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18485307:A:C
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
...more- HGVS:
14.
rs1484773876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:18485806
(GRCh38)
1:18812300
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18485805:G:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
...more- HGVS:
15.
rs1484434847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:18482924
(GRCh38)
1:18809418
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18482923:T:C
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
...more- HGVS:
17.
rs1483466293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:18480342
(GRCh38)
1:18806836
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18480341:G:A
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
...more- HGVS:
18.
rs1482962418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:18480514
(GRCh38)
1:18807008
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18480513:G:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
...more- HGVS:
19.
rs1482243670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:18481497
(GRCh38)
1:18807991
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18481496:C:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1482015439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:18479364
(GRCh38)
1:18805858
(GRCh37)
- Canonical SPDI:
- NC_000001.11:18479363:G:T
- Gene:
- KLHDC7A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
...more- HGVS: