Links from Gene
Items: 1 to 20 of 992
1.
rs1490904935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:57212687
(GRCh38)
20:55787743
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57212686:G:A,NC_000020.11:57212686:G:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000106/2
(TOMMO)
A=0.000312/2
(1000Genomes)
- HGVS:
3.
rs1490071239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57211723
(GRCh38)
20:55786779
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57211722:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489699343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57214962
(GRCh38)
20:55790018
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57214961:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (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:
5.
rs1488000481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57215241
(GRCh38)
20:55790297
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57215240:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000283/5
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
6.
rs1487635431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:57215776
(GRCh38)
20:55790832
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57215775:C:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
7.
rs1484289897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:57211983
(GRCh38)
20:55787039
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57211982:G:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1483718638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:57215443
(GRCh38)
20:55790499
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57215442:G:C
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1483580063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:57214691
(GRCh38)
20:55789747
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57214690:A:C
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1483478376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:57212295
(GRCh38)
20:55787351
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57212294:C:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1482659482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:57212389
(GRCh38)
20:55787445
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57212388:G:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
T=0.000318/5
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
12.
rs1482333479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:57212717
(GRCh38)
20:55787773
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57212716:C:G,NC_000020.11:57212716:C:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480380383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:57213189
(GRCh38)
20:55788245
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57213188:C:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1480379523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57214674
(GRCh38)
20:55789730
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57214673:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1480013843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:57213229
(GRCh38)
20:55788285
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57213228:C:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
16.
rs1478930680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:57211704
(GRCh38)
20:55786760
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57211703:G:A,NC_000020.11:57211703:G:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1478754116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:57215396
(GRCh38)
20:55790452
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57215395:C:T
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1478335599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57213615
(GRCh38)
20:55788671
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57213614:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
19.
rs1477673881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:57215884
(GRCh38)
20:55790940
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57215883:T:C
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
20.
rs1477673618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:57216186
(GRCh38)
20:55791242
(GRCh37)
- Canonical SPDI:
- NC_000020.11:57216185:G:A
- Gene:
- BMP7 (Varview), BMP7-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: