Links from Nucleotide
Items: 1 to 20 of 634
1.
rs1489989723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:22564373
(GRCh38)
22:22906778
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22564372:C:A,NC_000022.11:22564372:C:T
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000022.11:g.22564373C>A, NC_000022.11:g.22564373C>T, NC_000022.10:g.22906778C>A, NC_000022.10:g.22906778C>T, NG_000002.1:g.530766C>A, NG_000002.1:g.530766C>T, NT_187629.1:g.200030C>A, NT_187629.1:g.200030C>T, NR_027426.2:n.882C>A, NR_027426.2:n.882C>T, NR_027426.1:n.876C>A, NR_027426.1:n.876C>T
3.
rs1488882353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:22566552
(GRCh38)
22:22908957
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22566551:T:C
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
4.
rs1487746382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:22565495
(GRCh38)
22:22907900
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22565494:A:G
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
5.
rs1482557611 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTAGAATGCTTTTTC
[Show Flanks]
- Chromosome:
- 22:22563683
(GRCh38)
22:22906089
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22563683::CTAGAATGCTTTTTC
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CTAGAATGCTTTTTC=0.000015/2
(GnomAD)
- HGVS:
6.
rs1481718195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:22565481
(GRCh38)
22:22907886
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22565480:G:A,NC_000022.11:22565480:G:C
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.22565481G>A, NC_000022.11:g.22565481G>C, NC_000022.10:g.22907886G>A, NC_000022.10:g.22907886G>C, NG_000002.1:g.531874G>A, NG_000002.1:g.531874G>C, NT_187629.1:g.201138G>A, NT_187629.1:g.201138G>C, NR_027426.2:n.1990G>A, NR_027426.2:n.1990G>C, NR_027426.1:n.1984G>A, NR_027426.1:n.1984G>C
7.
rs1480500629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22565619
(GRCh38)
22:22908024
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22565618:G:A
- Gene:
- LL22NC03-63E9.3 (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=0.000008/2
(TOPMED)
- HGVS:
8.
rs1480036974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 22:22564032
(GRCh38)
22:22906437
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22564031:A:C,NC_000022.11:22564031:A:G
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0./0
(SGDP_PRJ)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000022.11:g.22564032A>C, NC_000022.11:g.22564032A>G, NC_000022.10:g.22906437A>C, NC_000022.10:g.22906437A>G, NG_000002.1:g.530425A>C, NG_000002.1:g.530425A>G, NT_187629.1:g.199689A>C, NT_187629.1:g.199689A>G, NR_027426.2:n.541A>C, NR_027426.2:n.541A>G, NR_027426.1:n.535A>C, NR_027426.1:n.535A>G
9.
rs1479086702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:22564351
(GRCh38)
22:22906756
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22564350:T:C
- Gene:
- LL22NC03-63E9.3 (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:
10.
rs1476811221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:22566027
(GRCh38)
22:22908432
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22566026:A:C
- Gene:
- LL22NC03-63E9.3 (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.
rs1476607703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22564322
(GRCh38)
22:22906727
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22564321:G:A
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1473726455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:22564111
(GRCh38)
22:22906516
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22564110:A:T
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1471249929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:22563845
(GRCh38)
22:22906250
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22563844:C:T
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000027/3
(GnomAD_exomes)
- HGVS:
14.
rs1470606498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22563826
(GRCh38)
22:22906231
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22563825:G:A
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000043/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1470427637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22566325
(GRCh38)
22:22908730
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22566324:G:A
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1470155922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:22565035
(GRCh38)
22:22907440
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22565034:A:G
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000034/9
(TOPMED)
G=0.000223/1
(Estonian)
G=0.002053/6
(KOREAN)
- HGVS:
17.
rs1468894568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22565179
(GRCh38)
22:22907584
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22565178:G:A
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1468458992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:22563691
(GRCh38)
22:22906096
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22563690:G:A
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
19.
rs1465981186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:22563733
(GRCh38)
22:22906138
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22563732:A:G
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1463669936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:22566171
(GRCh38)
22:22908576
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22566170:G:C
- Gene:
- LL22NC03-63E9.3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: