Links from Nucleotide
Items: 1 to 20 of 701
1.
rs1490862145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:4996746
(GRCh38)
7:5036377
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4996745:G:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489077385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:4997780
(GRCh38)
7:5037411
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997779:T:A,NC_000007.14:4997779:T:C
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
3.
rs1488748261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:4997818
(GRCh38)
7:5037449
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997817:T:C
- Gene:
- RNF216P1 (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=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485476989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:4996622
(GRCh38)
7:5036253
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4996621:G:A,NC_000007.14:4996621:G:T
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000264/4
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1485358428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:4989175
(GRCh38)
7:5028806
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4989174:A:G
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1484807085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:4974004
(GRCh38)
7:5013635
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4974003:T:C
- Gene:
- RNF216P1 (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:
8.
rs1483391992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:4998017
(GRCh38)
7:5037648
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4998016:G:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1482977964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:4997941
(GRCh38)
7:5037572
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997940:C:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
10.
rs1482104148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:4997049
(GRCh38)
7:5036680
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997048:G:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1482066691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:4997487
(GRCh38)
7:5037118
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997486:G:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1481579625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:4996880
(GRCh38)
7:5036511
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4996879:C:T
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
13.
rs1481523995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:4997452
(GRCh38)
7:5037083
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997451:C:A,NC_000007.14:4997451:C:T
- Gene:
- RNF216P1 (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=0.000007/1
(GnomAD)
T=0.000312/2
(1000Genomes)
A=0.001092/2
(Korea1K)
- HGVS:
17.
rs1478249166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:4997726
(GRCh38)
7:5037357
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997725:T:A,NC_000007.14:4997725:T:C
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
18.
rs1472979757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:4998063
(GRCh38)
7:5037694
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4998061:TAT:T
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
19.
rs1472679687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:4997455
(GRCh38)
7:5037086
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4997454:G:A
- Gene:
- RNF216P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
20.
rs1472263106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:4976337
(GRCh38)
7:5015968
(GRCh37)
- Canonical SPDI:
- NC_000007.14:4976336:A:C
- Gene:
- RNF216P1 (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: