Links from Nucleotide
Items: 1 to 20 of 157
2.
rs1486618064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:63704328
(GRCh38)
1:64169999
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704327:T:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485239608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:63704109
(GRCh38)
1:64169780
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704108:A:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
4.
rs1475119781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:63703954
(GRCh38)
1:64169625
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703953:A:G
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000342/1
(KOREAN)
- HGVS:
5.
rs1473962034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:63704412
(GRCh38)
1:64170083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704411:G:A
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1471344975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:63704099
(GRCh38)
1:64169770
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704098:C:G,NC_000001.11:63704098:C:T
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
T=0.000342/1
(KOREAN)
- HGVS:
7.
rs1469676508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:63704413
(GRCh38)
1:64170084
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704412:A:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
8.
rs1466447634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:63703936
(GRCh38)
1:64169607
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703935:A:G
- Gene:
- LOC105378771 (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)
- HGVS:
9.
rs1462398917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:63727737
(GRCh38)
1:64193408
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63727736:C:T
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_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:
10.
rs1450630946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:63727738
(GRCh38)
1:64193409
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63727737:T:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1440016128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:63703988
(GRCh38)
1:64169659
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703987:A:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1438708613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:63703969
(GRCh38)
1:64169640
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703968:G:A
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1433076244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:63704224
(GRCh38)
1:64169895
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704223:A:G
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1431951609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:63704251
(GRCh38)
1:64169922
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704250:A:G
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
15.
rs1428051502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:63703892
(GRCh38)
1:64169563
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703891:T:C
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1426495421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:63703878
(GRCh38)
1:64169549
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703877:G:A
- Gene:
- LOC105378771 (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=0.000021/3
(GnomAD)
- HGVS:
18.
rs1421577247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:63703927
(GRCh38)
1:64169598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63703926:G:A
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1420298887 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:63704486
(GRCh38)
1:64170157
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63704485:T:
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000054/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
20.
rs1416673479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:63727777
(GRCh38)
1:64193448
(GRCh37)
- Canonical SPDI:
- NC_000001.11:63727776:A:G
- Gene:
- LOC105378771 (Varview)
- Functional Consequence:
- 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: