Links from Gene
Items: 1 to 20 of 3507
1.
rs1491523252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 12:130160353
(GRCh38)
12:130644899
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130160353:A:ACA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.000026/7
(TOPMED)
- HGVS:
2.
rs1491448426 has merged into rs746299443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 12:130157908
(GRCh38)
12:130642453
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130157900:ACACACACA:ACACACA,NC_000012.12:130157900:ACACACACA:ACACACACACA,NC_000012.12:130157900:ACACACACA:ACACACACACACA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACA=0./0
(
ALFA)
AC=0.00036/5
(TOMMO)
-=0.0801/297
(TWINSUK)
-=0.08381/323
(ALSPAC)
- HGVS:
3.
rs1491431888 has merged into rs58607562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 12:130160360
(GRCh38)
12:130644905
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAA,NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:130160352:AAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.478412/126631
(TOPMED)
A=0.494409/2476
(1000Genomes)
- HGVS:
NC_000012.12:g.130160360_130160363del, NC_000012.12:g.130160362_130160363del, NC_000012.12:g.130160363del, NC_000012.12:g.130160363dup, NC_000012.12:g.130160362_130160363dup, NC_000012.12:g.130160361_130160363dup, NC_000012.11:g.130644905_130644908del, NC_000012.11:g.130644907_130644908del, NC_000012.11:g.130644908del, NC_000012.11:g.130644908dup, NC_000012.11:g.130644907_130644908dup, NC_000012.11:g.130644906_130644908dup
5.
rs1491234701 has merged into rs1214712624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:130153779
(GRCh38)
12:130638324
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:130153768:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.130153779_130153796del, NC_000012.12:g.130153781_130153796del, NC_000012.12:g.130153782_130153796del, NC_000012.12:g.130153783_130153796del, NC_000012.12:g.130153784_130153796del, NC_000012.12:g.130153785_130153796del, NC_000012.12:g.130153786_130153796del, NC_000012.12:g.130153787_130153796del, NC_000012.12:g.130153788_130153796del, NC_000012.12:g.130153789_130153796del, NC_000012.12:g.130153790_130153796del, NC_000012.12:g.130153791_130153796del, NC_000012.12:g.130153792_130153796del, NC_000012.12:g.130153793_130153796del, NC_000012.12:g.130153794_130153796del, NC_000012.12:g.130153795_130153796del, NC_000012.12:g.130153796del, NC_000012.12:g.130153796dup, NC_000012.12:g.130153795_130153796dup, NC_000012.12:g.130153794_130153796dup, NC_000012.12:g.130153793_130153796dup, NC_000012.12:g.130153792_130153796dup, NC_000012.12:g.130153791_130153796dup, NC_000012.12:g.130153790_130153796dup, NC_000012.12:g.130153789_130153796dup, NC_000012.12:g.130153788_130153796dup, NC_000012.12:g.130153785_130153796dup, NC_000012.12:g.130153782_130153796dup, NC_000012.12:g.130153779_130153796dup, NC_000012.11:g.130638324_130638341del, NC_000012.11:g.130638326_130638341del, NC_000012.11:g.130638327_130638341del, NC_000012.11:g.130638328_130638341del, NC_000012.11:g.130638329_130638341del, NC_000012.11:g.130638330_130638341del, NC_000012.11:g.130638331_130638341del, NC_000012.11:g.130638332_130638341del, NC_000012.11:g.130638333_130638341del, NC_000012.11:g.130638334_130638341del, NC_000012.11:g.130638335_130638341del, NC_000012.11:g.130638336_130638341del, NC_000012.11:g.130638337_130638341del, NC_000012.11:g.130638338_130638341del, NC_000012.11:g.130638339_130638341del, NC_000012.11:g.130638340_130638341del, NC_000012.11:g.130638341del, NC_000012.11:g.130638341dup, NC_000012.11:g.130638340_130638341dup, NC_000012.11:g.130638339_130638341dup, NC_000012.11:g.130638338_130638341dup, NC_000012.11:g.130638337_130638341dup, NC_000012.11:g.130638336_130638341dup, NC_000012.11:g.130638335_130638341dup, NC_000012.11:g.130638334_130638341dup, NC_000012.11:g.130638333_130638341dup, NC_000012.11:g.130638330_130638341dup, NC_000012.11:g.130638327_130638341dup, NC_000012.11:g.130638324_130638341dup
6.
rs1491202192 has merged into rs776490649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CACA,CACACACA
[Show Flanks]
- Chromosome:
- 12:130157838
(GRCh38)
12:130642383
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130157836:ACACACA:A,NC_000012.12:130157836:ACACACA:ACACA,NC_000012.12:130157836:ACACACA:ACACACACA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACA=0.00683/81
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
7.
rs1491081515 has merged into rs1555255972 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA
[Show Flanks]
- Chromosome:
- 12:130157720
(GRCh38)
12:130642265
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130157718:ATATATA:A,NC_000012.12:130157718:ATATATA:ATA,NC_000012.12:130157718:ATATATA:ATATA,NC_000012.12:130157718:ATATATA:ATATATATA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
-=0.00085/14
(TOMMO)
- HGVS:
8.
rs1491005861 has merged into rs1555255968 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:130157714
(GRCh38)
12:130642259
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000012.12:130157700:ACACACACACACACACACA:ACACACACACACACACACACACACACACACACA
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.130157702CA[6], NC_000012.12:g.130157702CA[7], NC_000012.12:g.130157702CA[8], NC_000012.12:g.130157702CA[10], NC_000012.12:g.130157702CA[11], NC_000012.12:g.130157702CA[12], NC_000012.12:g.130157702CA[13], NC_000012.12:g.130157702CA[14], NC_000012.12:g.130157702CA[15], NC_000012.12:g.130157702CA[16], NC_000012.11:g.130642247CA[6], NC_000012.11:g.130642247CA[7], NC_000012.11:g.130642247CA[8], NC_000012.11:g.130642247CA[10], NC_000012.11:g.130642247CA[11], NC_000012.11:g.130642247CA[12], NC_000012.11:g.130642247CA[13], NC_000012.11:g.130642247CA[14], NC_000012.11:g.130642247CA[15], NC_000012.11:g.130642247CA[16]
9.
rs1490553677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:130162587
(GRCh38)
12:130647132
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130162586:C:T
- Gene:
- FZD10 (Varview), FZD10-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490527556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:130151593
(GRCh38)
12:130636138
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130151592:G:A
- Gene:
- FZD10-AS1 (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:
11.
rs1490035345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:130152018
(GRCh38)
12:130636563
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130152017:C:T
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
12.
rs1489379102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:130156319
(GRCh38)
12:130640864
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130156318:T:C
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
13.
rs1489072525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:130161277
(GRCh38)
12:130645822
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130161276:C:T
- Gene:
- FZD10 (Varview), FZD10-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1489018838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:130161819
(GRCh38)
12:130646364
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130161818:G:C
- Gene:
- FZD10 (Varview), FZD10-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
15.
rs1488944932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:130153420
(GRCh38)
12:130637965
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130153419:G:T
- Gene:
- FZD10-AS1 (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=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488754400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:130156522
(GRCh38)
12:130641067
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130156521:G:A,NC_000012.12:130156521:G:C
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488733747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:130162941
(GRCh38)
12:130647486
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130162940:G:T
- Gene:
- FZD10 (Varview), FZD10-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000015/2
(GnomAD_exomes)
- HGVS:
18.
rs1488731806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:130155418
(GRCh38)
12:130639963
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130155417:T:C
- Gene:
- FZD10-AS1 (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:
19.
rs1488396200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:130155357
(GRCh38)
12:130639902
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130155356:G:A,NC_000012.12:130155356:G:C
- Gene:
- FZD10-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00005/1
(
ALFA)
A=0.00022/1
(Estonian)
- HGVS:
20.
rs1488039373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:130162131
(GRCh38)
12:130646676
(GRCh37)
- Canonical SPDI:
- NC_000012.12:130162130:A:G
- Gene:
- FZD10 (Varview), FZD10-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: