Links from Nucleotide
Items: 1 to 20 of 193
1.
rs1490336267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:201183
(GRCh38)
4:194972
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201182:G:A,NC_000004.12:201182:G:T
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS:
NC_000004.12:g.201183G>A, NC_000004.12:g.201183G>T, NC_000004.11:g.194972G>A, NC_000004.11:g.194972G>T, NW_004775427.1:g.191183G>A, NW_004775427.1:g.191183G>T, NR_110527.2:n.499G>A, NR_110527.2:n.499G>T, NR_110527.1:n.524G>A, NR_110527.1:n.524G>T, NR_110528.1:n.301G>A, NR_110528.1:n.301G>T
2.
rs1488876262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:201749
(GRCh38)
4:195538
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201748:C:G
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485582336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:201897
(GRCh38)
4:195686
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201896:A:G
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1484438405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:202101
(GRCh38)
4:195890
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202100:G:A,NC_000004.12:202100:G:T
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.202101G>A, NC_000004.12:g.202101G>T, NC_000004.11:g.195890G>A, NC_000004.11:g.195890G>T, NG_022002.2:g.3028C>T, NG_022002.2:g.3028C>A, NW_004775427.1:g.192101G>A, NW_004775427.1:g.192101G>T, NR_110527.2:n.997G>A, NR_110527.2:n.997G>T, NR_110527.1:n.1022G>A, NR_110527.1:n.1022G>T, NR_110528.1:n.799G>A, NR_110528.1:n.799G>T
5.
rs1484397060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:124601
(GRCh38)
4:124483
(GRCh37)
- Canonical SPDI:
- NC_000004.12:124600:T:G
- Gene:
- ZNF718 (Varview), LOC124900641 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000004.12:g.124601T>G, NW_004775427.1:g.114601T>G, NC_000004.11:g.124483T>G, NM_001039127.6:c.-70T>G, NM_001039127.5:c.-70T>G, NM_001039127.4:c.-70T>G, NM_001039127.3:c.-70T>G, NM_153691.4:c.-508T>G, NM_153691.3:c.-1411T>G, NM_001289930.2:c.-789T>G, NM_001289930.1:c.-789T>G, NR_110527.2:n.101T>G, NR_110527.1:n.126T>G, NR_110529.1:n.126T>G, XM_047416469.1:c.*171A>C, NR_110528.1:n.126T>G
6.
rs1483679874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:202224
(GRCh38)
4:196013
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202223:G:A
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
8.
rs1467330204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 4:202055
(GRCh38)
4:195844
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202054:C:A,NC_000004.12:202054:C:G
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
NC_000004.12:g.202055C>A, NC_000004.12:g.202055C>G, NC_000004.11:g.195844C>A, NC_000004.11:g.195844C>G, NG_022002.2:g.3074G>T, NG_022002.2:g.3074G>C, NW_004775427.1:g.192055C>A, NW_004775427.1:g.192055C>G, NR_110527.2:n.951C>A, NR_110527.2:n.951C>G, NR_110527.1:n.976C>A, NR_110527.1:n.976C>G, NR_110528.1:n.753C>A, NR_110528.1:n.753C>G
9.
rs1461858907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:124478
(GRCh38)
4:124360
(GRCh37)
- Canonical SPDI:
- NC_000004.12:124477:G:A
- Gene:
- ZNF718 (Varview), LOC124900641 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_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:
10.
rs1459667237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:202290
(GRCh38)
4:196079
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202289:C:A
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1452985541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:124523
(GRCh38)
4:124405
(GRCh37)
- Canonical SPDI:
- NC_000004.12:124522:C:T
- Gene:
- ZNF718 (Varview), LOC124900641 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000004.12:g.124523C>T, NW_004775427.1:g.114523C>T, NC_000004.11:g.124405C>T, NM_001039127.6:c.-148C>T, NM_001039127.5:c.-148C>T, NM_153691.4:c.-586C>T, NM_153691.3:c.-1489C>T, NM_001289930.2:c.-867C>T, NM_001289930.1:c.-867C>T, NR_110527.2:n.23C>T, NR_110527.1:n.48C>T, NR_110529.1:n.48C>T, XM_047416469.1:c.*249G>A, NR_110528.1:n.48C>T
12.
rs1448445767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:124505
(GRCh38)
4:124387
(GRCh37)
- Canonical SPDI:
- NC_000004.12:124504:T:C
- Gene:
- ZNF718 (Varview), LOC124900641 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
NC_000004.12:g.124505T>C, NW_004775427.1:g.114505T>C, NC_000004.11:g.124387T>C, NM_001039127.6:c.-166T>C, NM_001039127.5:c.-166T>C, NM_153691.3:c.-1507T>C, NM_001289930.2:c.-885T>C, NM_001289930.1:c.-885T>C, NR_110527.2:n.5T>C, NR_110527.1:n.30T>C, NR_110529.1:n.30T>C, XM_047416469.1:c.*267A>G, NR_110528.1:n.30T>C
13.
rs1446878385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:124586
(GRCh38)
4:124468
(GRCh37)
- Canonical SPDI:
- NC_000004.12:124585:C:G
- Gene:
- ZNF718 (Varview), LOC124900641 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000004.12:g.124586C>G, NW_004775427.1:g.114586C>G, NC_000004.11:g.124468C>G, NM_001039127.6:c.-85C>G, NM_001039127.5:c.-85C>G, NM_001039127.4:c.-85C>G, NM_001039127.3:c.-85C>G, NM_153691.4:c.-523C>G, NM_153691.3:c.-1426C>G, NM_001289930.2:c.-804C>G, NM_001289930.1:c.-804C>G, NR_110527.2:n.86C>G, NR_110527.1:n.111C>G, NR_110529.1:n.111C>G, XM_047416469.1:c.*186G>C, NR_110528.1:n.111C>G
14.
rs1446456468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:201165
(GRCh38)
4:194954
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201164:C:G
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_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:
15.
rs1434869376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 4:201867
(GRCh38)
4:195657
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201867:ATATA:ATATATA
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATA=0./0
(
ALFA)
AT=0.000004/1
(TOPMED)
AT=0.000007/1
(GnomAD)
- HGVS:
16.
rs1429341419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:201786
(GRCh38)
4:195575
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201785:T:G
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1428310372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:201837
(GRCh38)
4:195626
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201836:G:A,NC_000004.12:201836:G:T
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
NC_000004.12:g.201837G>A, NC_000004.12:g.201837G>T, NC_000004.11:g.195626G>A, NC_000004.11:g.195626G>T, NG_022002.2:g.3292C>T, NG_022002.2:g.3292C>A, NW_004775427.1:g.191837G>A, NW_004775427.1:g.191837G>T, NR_110527.2:n.733G>A, NR_110527.2:n.733G>T, NR_110527.1:n.758G>A, NR_110527.1:n.758G>T, NR_110528.1:n.535G>A, NR_110528.1:n.535G>T
18.
rs1428048201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:202065
(GRCh38)
4:195854
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202064:G:A
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
19.
rs1425974611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:202208
(GRCh38)
4:195997
(GRCh37)
- Canonical SPDI:
- NC_000004.12:202207:C:T
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1423892425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:201124
(GRCh38)
4:194913
(GRCh37)
- Canonical SPDI:
- NC_000004.12:201123:C:T
- Gene:
- ZNF718 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: