Links from Nucleotide
Items: 1 to 20 of 120
1.
rs1490360909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53331217
(GRCh38)
1:53796889
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53331216:G:A
- Gene:
- LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1484740742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53336471
(GRCh38)
1:53802143
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336470:G:A
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
3.
rs1483839661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:53328311
(GRCh38)
1:53793983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53328310:C:A
- Gene:
- LRP8 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1483177254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53336265
(GRCh38)
1:53801937
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336264:G:A
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.00046/8
(TOMMO)
- HGVS:
5.
rs1479668655 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCATCTTTGTCTTCA>-
[Show Flanks]
- Chromosome:
- 1:53331199
(GRCh38)
1:53796871
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53331198:TCATCTTTGTCTTCA:
- Gene:
- LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1473395819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53328362
(GRCh38)
1:53794034
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53328361:G:A
- Gene:
- LRP8 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1459317274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:53336425
(GRCh38)
1:53802097
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336424:T:G
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
8.
rs1454146704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:53336233
(GRCh38)
1:53801905
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336232:A:G
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- 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)
G=0.000035/1
(TOMMO)
- HGVS:
9.
rs1450929957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53328354
(GRCh38)
1:53794026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53328353:C:T
- Gene:
- LRP8 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1448752993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:53336386
(GRCh38)
1:53802058
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336385:G:A,NC_000001.11:53336385:G:T
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1437834172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:53336508
(GRCh38)
1:53802180
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336507:C:A
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1436823712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53336361
(GRCh38)
1:53802033
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336360:C:T
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00034/1
(KOREAN)
- HGVS:
13.
rs1430627809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53336221
(GRCh38)
1:53801893
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336220:C:T
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
14.
rs1425374742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53331173
(GRCh38)
1:53796845
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53331172:G:A
- Gene:
- LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1423264877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:53336351
(GRCh38)
1:53802023
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53336350:A:G
- Gene:
- LOC105378731 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
17.
rs1404930830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:53328340
(GRCh38)
1:53794012
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53328339:A:C
- Gene:
- LRP8 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1393022017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:53331177
(GRCh38)
1:53796849
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53331176:C:A
- Gene:
- LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1374030278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:53328250
(GRCh38)
1:53793922
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53328249:G:T
- Gene:
- LRP8 (Varview), LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1373885834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:53331191
(GRCh38)
1:53796863
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53331190:T:A
- Gene:
- LRP8-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: