Links from Gene
Items: 1 to 20 of 2378
1.
rs1490935350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:13419909
(GRCh38)
18:13419908
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13419908:A:G
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490777765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:13422352
(GRCh38)
18:13422351
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13422351:T:C,NC_000018.10:13422351:T:G
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490597306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13421628
(GRCh38)
18:13421627
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13421627:C:T
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490445569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13420420
(GRCh38)
18:13420419
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13420419:G:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
5.
rs1489517827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13428059
(GRCh38)
18:13428058
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13428058:C:T
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489230299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13420959
(GRCh38)
18:13420958
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13420958:G:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
7.
rs1489136673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:13421210
(GRCh38)
18:13421209
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13421209:T:C
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,splice_acceptor_variant,genic_upstream_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:
8.
rs1488503102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13424008
(GRCh38)
18:13424007
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13424007:G:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1488366413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:13424840
(GRCh38)
18:13424839
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13424839:T:C
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488187983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 18:13424546
(GRCh38)
18:13424545
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13424545:A:T
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
11.
rs1488158143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13421609
(GRCh38)
18:13421608
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13421608:G:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1487557179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:13429074
(GRCh38)
18:13429073
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13429073:T:A,NC_000018.10:13429073:T:C
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1486871641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:13428548
(GRCh38)
18:13428547
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13428547:C:T
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1486774718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 18:13419173
(GRCh38)
18:13419172
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13419172:T:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486247177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:13423804
(GRCh38)
18:13423803
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13423803:A:G
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1486196641 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 18:13422789
(GRCh38)
18:13422788
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13422788:T:
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1486184251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 18:13422207
(GRCh38)
18:13422206
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13422206:T:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1485928185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:13420245
(GRCh38)
18:13420244
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13420244:A:G
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000057/15
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
20.
rs1485822339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:13423204
(GRCh38)
18:13423203
(GRCh37)
- Canonical SPDI:
- NC_000018.10:13423203:G:A
- Gene:
- LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS: