Links from Gene
Items: 1 to 20 of 3137
3.
rs1490919391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:54018819
(GRCh38)
1:54484492
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54018818:A:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490826840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:54008969
(GRCh38)
1:54474642
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54008968:C:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
NC_000001.11:g.54008969C>T, NC_000001.10:g.54474642C>T, NM_001010978.4:c.*13G>A, NM_001010978.3:c.*13G>A, XM_011541446.2:c.*13G>A, XM_011541446.1:c.*13G>A, NM_001276393.2:c.*13G>A, NM_001276393.1:c.*13G>A, NM_001276395.2:c.*168G>A, NM_001276395.1:c.*168G>A, NM_001276392.2:c.*13G>A, NM_001276392.1:c.*13G>A, NM_001276394.2:c.*13G>A, NM_001276394.1:c.*13G>A
5.
rs1490738566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54015008
(GRCh38)
1:54480681
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54015007:T:C
- Gene:
- LDLRAD1 (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:
6.
rs1490735618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:54010921
(GRCh38)
1:54476594
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54010920:G:A
- Gene:
- LDLRAD1 (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:
7.
rs1490605630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:54018277
(GRCh38)
1:54483950
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54018276:C:A
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490428060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:54019278
(GRCh38)
1:54484951
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54019277:A:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000071/1
(TOMMO)
T=0.000342/1
(KOREAN)
- HGVS:
9.
rs1490005952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:54009055
(GRCh38)
1:54474728
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54009054:G:A
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
NC_000001.11:g.54009055G>A, NC_000001.10:g.54474728G>A, NM_001010978.4:c.545C>T, NM_001010978.3:c.545C>T, XM_011541446.2:c.542C>T, XM_011541446.1:c.542C>T, NM_001276393.2:c.416C>T, NM_001276393.1:c.416C>T, NM_001276395.2:c.*82C>T, NM_001276395.1:c.*82C>T, NM_001276392.2:c.428C>T, NM_001276392.1:c.428C>T, NM_001276394.2:c.278C>T, NM_001276394.1:c.278C>T, NP_001010978.2:p.Pro182Leu, XP_011539748.1:p.Pro181Leu, NP_001263322.1:p.Pro139Leu, NP_001263321.1:p.Pro143Leu, NP_001263323.1:p.Pro93Leu
10.
rs1489940265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54019749
(GRCh38)
1:54485422
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54019748:T:C
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489197832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:54019883
(GRCh38)
1:54485556
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54019882:G:A
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
12.
rs1489103905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54020150
(GRCh38)
1:54485823
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54020149:T:C
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488879897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:54014087
(GRCh38)
1:54479760
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54014086:G:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488424492 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:54013215
(GRCh38)
1:54478888
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54013214:A:
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488301475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54010298
(GRCh38)
1:54475971
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54010297:T:C
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.54010298T>C, NC_000001.10:g.54475971T>C, NM_001010978.4:c.453A>G, NM_001010978.3:c.453A>G, XM_011541446.2:c.450A>G, XM_011541446.1:c.450A>G, NM_001276393.2:c.324A>G, NM_001276393.1:c.324A>G, NM_001276395.2:c.293A>G, NM_001276395.1:c.293A>G, NM_001276392.2:c.336A>G, NM_001276392.1:c.336A>G, NM_001276394.2:c.186A>G, NM_001276394.1:c.186A>G, XM_017001264.2:c.293A>G, XM_017001264.1:c.293A>G, NP_001263324.1:p.Gln98Arg, XP_016856753.1:p.Gln98Arg
16.
rs1487864604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54016780
(GRCh38)
1:54482453
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54016779:T:C
- Gene:
- LDLRAD1 (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:
17.
rs1487716470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:54013646
(GRCh38)
1:54479319
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54013645:T:G
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1486991411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAACCCAGAAACTT>-
[Show Flanks]
- Chromosome:
- 1:54018435
(GRCh38)
1:54484108
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54018433:TGAAACCCAGAAACTT:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000007/1
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1486949304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:54013946
(GRCh38)
1:54479619
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54013945:C:G,NC_000001.11:54013945:C:T
- Gene:
- LDLRAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
G=0.00138/23
(TOMMO)
- HGVS: