Links from Nucleotide
Items: 1 to 20 of 268
1.
rs1489987965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:221732636
(GRCh38)
2:222597356
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221732635:A:C
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
2.
rs1485052428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:221736816
(GRCh38)
2:222601536
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221736815:T:A,NC_000002.12:221736815:T:C
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1479763538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:221732736
(GRCh38)
2:222597456
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221732735:C:A
- Gene:
- LOC105373899 (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=0.000011/3
(TOPMED)
- HGVS:
4.
rs1474930793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:221736786
(GRCh38)
2:222601506
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221736785:C:T
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
5.
rs1474629784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:221700390
(GRCh38)
2:222565110
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700389:C:T
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1472062578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:221637541
(GRCh38)
2:222502261
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221637540:G:A
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1470167534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:221700475
(GRCh38)
2:222565195
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700474:A:G
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000684/2
(KOREAN)
G=0.000814/14
(TOMMO)
- HGVS:
8.
rs1468392822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:221700498
(GRCh38)
2:222565218
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700497:T:A
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1466883553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:221683479
(GRCh38)
2:222548199
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221683478:G:A
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1464078636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:221637554
(GRCh38)
2:222502274
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221637553:T:C
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_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:
11.
rs1461517581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:221738570
(GRCh38)
2:222603290
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221738569:C:T
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1457521926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:221683443
(GRCh38)
2:222548163
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221683442:A:G
- Gene:
- LOC105373899 (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:
14.
rs1456702013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:221700414
(GRCh38)
2:222565134
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700413:A:G
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1455050637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:221700463
(GRCh38)
2:222565183
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700462:A:C,NC_000002.12:221700462:A:G
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1450510258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:221641689
(GRCh38)
2:222506409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221641688:A:G
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000042/11
(TOPMED)
G=0.000065/9
(GnomAD)
- HGVS:
17.
rs1445818393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:221738538
(GRCh38)
2:222603258
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221738537:G:A
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
18.
rs1442503644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:221641711
(GRCh38)
2:222506431
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221641710:T:C
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/4
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
19.
rs1440170687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:221683527
(GRCh38)
2:222548247
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221683526:C:A
- Gene:
- LOC105373899 (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:
20.
rs1439370545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:221700096
(GRCh38)
2:222564816
(GRCh37)
- Canonical SPDI:
- NC_000002.12:221700095:G:C
- Gene:
- LOC105373899 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS: