Links from Gene
Items: 1 to 20 of 1000
1.
rs1491396371 has merged into rs201227589 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 17:48612725
(GRCh38)
17:46690087
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48612723:GCG:G
- Gene:
- HOXB7 (Varview), HOXB8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000061/1
(
ALFA)
-=0.000106/2
(TOMMO)
-=0.000121/16
(GnomAD)
- HGVS:
2.
rs1491323817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:48611624
(GRCh38)
17:46688986
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48611622:AGA:A
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002023/24
(
ALFA)
-=0.002292/306
(GnomAD)
- HGVS:
3.
rs1490409754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48609711
(GRCh38)
17:46687073
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48609710:C:T
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
4.
rs1490358192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 17:48609680
(GRCh38)
17:46687042
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48609675:AGAGAG:AGAG
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
5.
rs1490357835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48607836
(GRCh38)
17:46685198
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48607835:C:T
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490028244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:48609558
(GRCh38)
17:46686920
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48609557:C:A
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489644498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:48610450
(GRCh38)
17:46687812
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48610449:G:C
- Gene:
- HOXB7 (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:
11.
rs1488782068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:48607787
(GRCh38)
17:46685149
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48607786:G:A,NC_000017.11:48607786:G:C
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488148968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:48610964
(GRCh38)
17:46688326
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48610963:T:G
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1487750188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:48607407
(GRCh38)
17:46684769
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48607406:G:T
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487087146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 17:48608195
(GRCh38)
17:46685557
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48608194:G:A,NC_000017.11:48608194:G:C,NC_000017.11:48608194:G:T
- Gene:
- HOXB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486400442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:48611850
(GRCh38)
17:46689212
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48611849:G:A
- Gene:
- HOXB7 (Varview), HOXB8 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: