Links from Nucleotide
Items: 1 to 20 of 611
1.
rs1490372922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:13240200
(GRCh38)
18:13240199
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240199:A:C
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490357876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13241033
(GRCh38)
18:13241032
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241032:G:A
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
3.
rs1488946270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13241904
(GRCh38)
18:13241903
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241903:C:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488530733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 18:13241187
(GRCh38)
18:13241186
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241186:G:A,NC_000018.10:13241186:G:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00047/3
(1000Genomes)
- HGVS:
NC_000018.10:g.13241187G>A, NC_000018.10:g.13241187G>T, NC_000018.9:g.13241186G>A, NC_000018.9:g.13241186G>T, XM_024451256.2:c.-1707G>A, XM_024451256.2:c.-1707G>T, XM_024451256.1:c.-1707G>A, XM_024451256.1:c.-1707G>T, NR_146617.1:n.1645G>A, NR_146617.1:n.1645G>T, NM_152469.1:c.*465G>A, NM_152469.1:c.*465G>T
5.
rs1488265497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGACCTTCAGTAGG>-
[Show Flanks]
- Chromosome:
- 18:13239616
(GRCh38)
18:13239615
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13239613:GGAGAGACCTTCAGTAGG:GG
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487478272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13239679
(GRCh38)
18:13239678
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13239678:G:A
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1482365799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13240210
(GRCh38)
18:13240209
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240209:C:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_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:
8.
rs1480544818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:13240324
(GRCh38)
18:13240323
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240323:T:A,NC_000018.10:13240323:T:C
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_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)
C=0.000342/1
(KOREAN)
- HGVS:
NC_000018.10:g.13240324T>A, NC_000018.10:g.13240324T>C, NC_000018.9:g.13240323T>A, NC_000018.9:g.13240323T>C, XM_024451256.2:c.-2570T>A, XM_024451256.2:c.-2570T>C, XM_024451256.1:c.-2570T>A, XM_024451256.1:c.-2570T>C, NR_146617.1:n.782T>A, NR_146617.1:n.782T>C, NM_152469.1:c.147T>A, NM_152469.1:c.147T>C
9.
rs1478579675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13241022
(GRCh38)
18:13241021
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241021:C:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
10.
rs1477687367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13240283
(GRCh38)
18:13240282
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240282:G:A
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1476018008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13239687
(GRCh38)
18:13239686
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13239686:C:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_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:
12.
rs1474499308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13241011
(GRCh38)
18:13241010
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241010:C:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
13.
rs1474417464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 18:13241789
(GRCh38)
18:13241788
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241788:A:G,NC_000018.10:13241788:A:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00034/1
(KOREAN)
T=0.00042/7
(TOMMO)
T=0.00109/2
(Korea1K)
- HGVS:
NC_000018.10:g.13241789A>G, NC_000018.10:g.13241789A>T, NC_000018.9:g.13241788A>G, NC_000018.9:g.13241788A>T, XM_024451256.2:c.-1105A>G, XM_024451256.2:c.-1105A>T, XM_024451256.1:c.-1105A>G, XM_024451256.1:c.-1105A>T, NR_146617.1:n.2247A>G, NR_146617.1:n.2247A>T, NM_152469.1:c.*1067A>G, NM_152469.1:c.*1067A>T
14.
rs1471726538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:13239844
(GRCh38)
18:13239843
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13239843:T:C,NC_000018.10:13239843:T:G
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000142/4
(TOMMO)
- HGVS:
NC_000018.10:g.13239844T>C, NC_000018.10:g.13239844T>G, NC_000018.9:g.13239843T>C, NC_000018.9:g.13239843T>G, XM_024451256.2:c.-3050T>C, XM_024451256.2:c.-3050T>G, XM_024451256.1:c.-3050T>C, XM_024451256.1:c.-3050T>G, NR_146617.1:n.302T>C, NR_146617.1:n.302T>G, NM_152469.1:c.-334T>C, NM_152469.1:c.-334T>G
15.
rs1466945138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 18:13241115
(GRCh38)
18:13241115
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241115:GGGG:GGGGG
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1466190174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13241834
(GRCh38)
18:13241833
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241833:G:A
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1466080240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:13240108
(GRCh38)
18:13240107
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240107:T:C,NC_000018.10:13240107:T:G
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
C=0.000142/2
(TOMMO)
- HGVS:
NC_000018.10:g.13240108T>C, NC_000018.10:g.13240108T>G, NC_000018.9:g.13240107T>C, NC_000018.9:g.13240107T>G, XM_024451256.2:c.-2786T>C, XM_024451256.2:c.-2786T>G, XM_024451256.1:c.-2786T>C, XM_024451256.1:c.-2786T>G, NR_146617.1:n.566T>C, NR_146617.1:n.566T>G, NM_152469.1:c.-70T>C, NM_152469.1:c.-70T>G
18.
rs1465867370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 18:13239827
(GRCh38)
18:13239826
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13239826:G:A,NC_000018.10:13239826:G:T
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
G=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000018.10:g.13239827G>A, NC_000018.10:g.13239827G>T, NC_000018.9:g.13239826G>A, NC_000018.9:g.13239826G>T, XM_024451256.2:c.-3067G>A, XM_024451256.2:c.-3067G>T, XM_024451256.1:c.-3067G>A, XM_024451256.1:c.-3067G>T, NR_146617.1:n.285G>A, NR_146617.1:n.285G>T, NM_152469.1:c.-351G>A, NM_152469.1:c.-351G>T
19.
rs1460657504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 18:13240817
(GRCh38)
18:13240816
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13240816:T:G
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1460300218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 18:13241609
(GRCh38)
18:13241608
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13241608:C:A
- Gene:
- LDLRAD4 (Varview), C18orf15 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: