Links from Gene
Items: 1 to 20 of 1752
1.
rs1491150798 has merged into rs201733165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT,CTCTCT
[Show Flanks]
- Chromosome:
- 8:55157859
(GRCh38)
8:56070419
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCT,NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCTCT,NC_000008.11:55157851:TCTCTCTCTCT:TCTCTCTCTCTCT
- Gene:
- XKR4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCT=0./0
(
ALFA)
-=0.00078/3
(ALSPAC)
-=0.00081/3
(TWINSUK)
-=0.00804/36
(Estonian)
-=0.01333/8
(NorthernSweden)
-=0.05606/281
(1000Genomes)
-=0.10178/1706
(TOMMO)
- HGVS:
2.
rs1488844751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:55159588
(GRCh38)
8:56072148
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55159587:G:T
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_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)
- HGVS:
3.
rs1487511075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:55157926
(GRCh38)
8:56070486
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55157925:A:T
- Gene:
- XKR4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
5.
rs1487346634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:55163853
(GRCh38)
8:56076413
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55163852:A:T
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- 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:
7.
rs1486597299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:55161174
(GRCh38)
8:56073734
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55161173:A:G
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
8.
rs1486470221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:55160642
(GRCh38)
8:56073202
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55160641:T:C
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1486374110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:55163502
(GRCh38)
8:56076062
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55163501:G:A
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
10.
rs1486266142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:55157376
(GRCh38)
8:56069936
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55157375:A:T
- Gene:
- XKR4 (Varview)
- Functional Consequence:
- 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:
11.
rs1486024433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 8:55164487
(GRCh38)
8:56077047
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55164486:G:A,NC_000008.11:55164486:G:C,NC_000008.11:55164486:G:T
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1485287226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:55162103
(GRCh38)
8:56074663
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55162102:C:A
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1484901394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:55162122
(GRCh38)
8:56074682
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55162121:A:G
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1484152927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:55158635
(GRCh38)
8:56071195
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55158634:A:G
- Gene:
- XKR4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1483353202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:55162946
(GRCh38)
8:56075506
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55162945:A:G
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
17.
rs1483046215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:55163367
(GRCh38)
8:56075927
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55163366:A:T
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
18.
rs1483040885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:55164144
(GRCh38)
8:56076704
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55164143:G:A
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1482931630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:55163049
(GRCh38)
8:56075609
(GRCh37)
- Canonical SPDI:
- NC_000008.11:55163048:T:C
- Gene:
- XKR4 (Varview), LOC105375844 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: