Links from Gene
Items: 1 to 20 of 2801
1.
rs1490917130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68873034
(GRCh38)
2:69100166
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68873033:T:C
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
2.
rs1490882513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:68870605
(GRCh38)
2:69097737
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68870604:T:G
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490738942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68860859
(GRCh38)
2:69087991
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68860858:T:C
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490320235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68862500
(GRCh38)
2:69089632
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68862499:A:G
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490248649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:68861428
(GRCh38)
2:69088560
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68861427:C:A
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489381502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68860719
(GRCh38)
2:69087851
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68860718:C:T
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
7.
rs1489127395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:68862604
(GRCh38)
2:69089736
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68862603:G:T
- Gene:
- BMP10 (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=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488933590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:68860965
(GRCh38)
2:69088097
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68860962:ATAT:AT
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488705159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68867354
(GRCh38)
2:69094486
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68867353:C:T
- Gene:
- BMP10 (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:
10.
rs1488325900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68866870
(GRCh38)
2:69094002
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68866869:A:G
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487451450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:68873283
(GRCh38)
2:69100415
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68873282:T:C
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487413178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68863097
(GRCh38)
2:69090229
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68863096:A:G
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487218193 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:68868863
(GRCh38)
2:69095995
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68868862:C:
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487147047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:68861540
(GRCh38)
2:69088672
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68861539:G:A,NC_000002.12:68861539:G:C
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1486870635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:68864540
(GRCh38)
2:69091672
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68864539:G:C
- Gene:
- BMP10 (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)
- HGVS:
18.
rs1486696884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 2:68866088
(GRCh38)
2:69093220
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68866087:A:C,NC_000002.12:68866087:A:T
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.68866088A>C, NC_000002.12:g.68866088A>T, NC_000002.11:g.69093220A>C, NC_000002.11:g.69093220A>T, NG_032117.1:g.10430T>G, NG_032117.1:g.10430T>A, NM_014482.3:c.818T>G, NM_014482.3:c.818T>A, NM_014482.2:c.818T>G, NM_014482.2:c.818T>A, NM_014482.1:c.818T>G, NM_014482.1:c.818T>A, NP_055297.1:p.Met273Arg, NP_055297.1:p.Met273Lys
19.
rs1486690863 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCCT>-
[Show Flanks]
- Chromosome:
- 2:68864942
(GRCh38)
2:69092074
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68864940:TTTCCT:T
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485388017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:68867526
(GRCh38)
2:69094658
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68867525:G:C
- Gene:
- BMP10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: