Links from Gene
Items: 1 to 20 of 6589
5.
rs1490872528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:83009719
(GRCh38)
15:83678471
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83009718:G:A
- Gene:
- C15orf40 (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:
6.
rs1490852502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:83007465
(GRCh38)
15:83676217
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83007464:A:G
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
7.
rs1490824736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:83010659
(GRCh38)
15:83679411
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83010658:G:T
- Gene:
- C15orf40 (Varview), LOC124903542 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490818609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:82992876
(GRCh38)
15:83661628
(GRCh37)
- Canonical SPDI:
- NC_000015.10:82992875:C:G,NC_000015.10:82992875:C:T
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
9.
rs1490689221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:82989310
(GRCh38)
15:83658062
(GRCh37)
- Canonical SPDI:
- NC_000015.10:82989309:A:G
- Gene:
- RAMAC (Varview), C15orf40 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
10.
rs1490655817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:82991753
(GRCh38)
15:83660505
(GRCh37)
- Canonical SPDI:
- NC_000015.10:82991752:A:G
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490451522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:83002580
(GRCh38)
15:83671332
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83002579:G:C
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490334082 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:82989337
(GRCh38)
15:83658089
(GRCh37)
- Canonical SPDI:
- NC_000015.10:82989336:A:
- Gene:
- RAMAC (Varview), C15orf40 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490286867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:83002099
(GRCh38)
15:83670851
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83002098:G:A
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490078704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:83011503
(GRCh38)
15:83680255
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83011502:C:A,NC_000015.10:83011502:C:T
- Gene:
- C15orf40 (Varview), LOC124903542 (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.83011503C>A, NC_000015.10:g.83011503C>T, NC_000015.9:g.83680255C>A, NC_000015.9:g.83680255C>T, NM_144597.3:c.105G>T, NM_144597.3:c.105G>A, NM_144597.2:c.105G>T, NM_144597.2:c.105G>A, XM_011521212.3:c.105G>T, XM_011521212.3:c.105G>A, XM_011521212.2:c.105G>T, XM_011521212.2:c.105G>A, XM_011521212.1:c.105G>T, XM_011521212.1:c.105G>A, XM_006720385.3:c.105G>T, XM_006720385.3:c.105G>A, XM_006720385.2:c.105G>T, XM_006720385.2:c.105G>A, XM_006720385.1:c.105G>T, XM_006720385.1:c.105G>A, XM_011521213.3:c.105G>T, XM_011521213.3:c.105G>A, XM_011521213.2:c.105G>T, XM_011521213.2:c.105G>A, XM_011521213.1:c.105G>T, XM_011521213.1:c.105G>A, XM_011521214.3:c.105G>T, XM_011521214.3:c.105G>A, XM_011521214.2:c.105G>T, XM_011521214.2:c.105G>A, XM_011521214.1:c.105G>T, XM_011521214.1:c.105G>A, NR_027649.2:n.137G>T, NR_027649.2:n.137G>A, NR_027649.1:n.139G>T, NR_027649.1:n.139G>A, NM_001160113.2:c.105G>T, NM_001160113.2:c.105G>A, NM_001160113.1:c.105G>T, NM_001160113.1:c.105G>A, NR_027650.2:n.137G>T, NR_027650.2:n.137G>A, NR_027650.1:n.139G>T, NR_027650.1:n.139G>A, NM_001160114.2:c.105G>T, NM_001160114.2:c.105G>A, NM_001160114.1:c.105G>T, NM_001160114.1:c.105G>A, NM_001160115.2:c.105G>T, NM_001160115.2:c.105G>A, NM_001160115.1:c.105G>T, NM_001160115.1:c.105G>A, NM_001160116.2:c.105G>T, NM_001160116.2:c.105G>A, NM_001160116.1:c.105G>T, NM_001160116.1:c.105G>A, XM_047432137.1:c.105G>T, XM_047432137.1:c.105G>A, XM_047432138.1:c.105G>T, XM_047432138.1:c.105G>A
16.
rs1490078528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:82997983
(GRCh38)
15:83666735
(GRCh37)
- Canonical SPDI:
- NC_000015.10:82997982:C:T
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.005142/61
(
ALFA)
T=0.000142/2
(TOMMO)
T=0.003695/477
(GnomAD)
C=0.4375/7
(SGDP_PRJ)
- HGVS:
17.
rs1490054049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:83009209
(GRCh38)
15:83677962
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83009209:A:AA
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489931236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:83007902
(GRCh38)
15:83676654
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83007901:T:G
- Gene:
- C15orf40 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489771685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:83012424
(GRCh38)
15:83681176
(GRCh37)
- Canonical SPDI:
- NC_000015.10:83012423:G:A
- Gene:
- C15orf40 (Varview), LOC124903542 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: