Links from Nucleotide
Items: 1 to 20 of 2180
1.
rs1490997332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:73431699
(GRCh38)
7:72846029
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73431698:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000422/5
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490869841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:73431644
(GRCh38)
7:72845974
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73431643:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490430642 has merged into rs868915319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:73433703
(GRCh38)
7:72848033
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73433702:G:A,NC_000007.14:73433702:G:C
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000243/34
(GnomAD)
A=0.000283/75
(TOPMED)
C=0.00463/1
(Qatari)
- HGVS:
4.
rs1490394335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:73432767
(GRCh38)
7:72847097
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73432766:A:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000057/15
(TOPMED)
T=0.000071/10
(GnomAD)
- HGVS:
5.
rs1489940988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:73433938
(GRCh38)
7:72848268
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73433937:C:G,NC_000007.14:73433937:C:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000007.14:g.73433938C>G, NC_000007.14:g.73433938C>T, NC_000007.13:g.72848268C>G, NC_000007.13:g.72848268C>T, NG_012028.1:g.5160C>G, NG_012028.1:g.5160C>T, NM_003508.3:c.-70C>G, NM_003508.3:c.-70C>T, NM_003508.2:c.-70C>G, NM_003508.2:c.-70C>T, NW_003871064.1:g.963174C>G, NW_003871064.1:g.963174C>T
6.
rs1489905367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:73433256
(GRCh38)
7:72847586
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73433255:G:A,NC_000007.14:73433255:G:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
7.
rs1489265575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:73436904
(GRCh38)
7:72851234
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73436903:C:A,NC_000007.14:73436903:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489107305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:73434410
(GRCh38)
7:72848740
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73434409:G:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000006/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
10.
rs1489008122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 7:73437794
(GRCh38)
7:72852124
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73437793:GGG:GG,NC_000007.14:73437793:GGG:GGGG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1488766569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:73431105
(GRCh38)
7:72845435
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73431104:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487899434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:73435916
(GRCh38)
7:72850246
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73435915:G:C,NC_000007.14:73435915:G:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000007.14:g.73435916G>C, NC_000007.14:g.73435916G>T, NC_000007.13:g.72850246G>C, NC_000007.13:g.72850246G>T, NG_012028.1:g.7138G>C, NG_012028.1:g.7138G>T, NM_003508.3:c.*133G>C, NM_003508.3:c.*133G>T, NM_003508.2:c.*133G>C, NM_003508.2:c.*133G>T, NW_003871064.1:g.965152G>C, NW_003871064.1:g.965152G>T
13.
rs1487564841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:73432318
(GRCh38)
7:72846648
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73432317:T:C
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00103/17
(TOMMO)
C=0.00164/3
(Korea1K)
C=0.0024/7
(KOREAN)
- HGVS:
14.
rs1487466781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:73435976
(GRCh38)
7:72850306
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73435975:G:A
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487435648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 7:73434856
(GRCh38)
7:72849186
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73434855:CC:C
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
17.
rs1487140215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:73435367
(GRCh38)
7:72849697
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73435366:C:G,NC_000007.14:73435366:C:T
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.73435367C>G, NC_000007.14:g.73435367C>T, NC_000007.13:g.72849697C>G, NC_000007.13:g.72849697C>T, NG_012028.1:g.6589C>G, NG_012028.1:g.6589C>T, NM_003508.3:c.1360C>G, NM_003508.3:c.1360C>T, NM_003508.2:c.1360C>G, NM_003508.2:c.1360C>T, NG_078353.1:g.49C>G, NG_078353.1:g.49C>T, NW_003871064.1:g.964603C>G, NW_003871064.1:g.964603C>T, NP_003499.1:p.Leu454Val, NP_003499.1:p.Leu454Phe
18.
rs1486925318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:73429290
(GRCh38)
7:72843620
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73429289:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486917427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:73436295
(GRCh38)
7:72850625
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73436294:C:G
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486797105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:73431993
(GRCh38)
7:72846323
(GRCh37)
- Canonical SPDI:
- NC_000007.14:73431992:C:A
- Gene:
- FZD9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS: