Links from Gene
Items: 1 to 20 of 1177
2.
rs1490583075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:41126796
(GRCh38)
9:69200025
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41126795:G:C,NC_000009.12:41126795:G:T
- Gene:
- LINC03025 (Varview), FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000011/1
(GnomAD)
- HGVS:
NC_000009.12:g.41126796G>C, NC_000009.12:g.41126796G>T, NC_000009.11:g.69200025G>C, NC_000009.11:g.69200025G>T, NM_001085476.4:c.*334C>G, NM_001085476.4:c.*334C>A, NM_001085476.3:c.*334C>G, NM_001085476.3:c.*334C>A, NM_001085476.2:c.*334C>G, NM_001085476.2:c.*334C>A, NM_001085476.1:c.*334C>G, NM_001085476.1:c.*334C>A
3.
rs1490495458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:41126111
(GRCh38)
9:69199340
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41126110:G:A
- Gene:
- LINC03025 (Varview), FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
4.
rs1490449443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:41127643
(GRCh38)
9:69200872
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41127642:C:T
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00312/51
(
ALFA)
T=0.00276/8
(KOREAN)
T=0.00315/53
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1489398879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:41130006
(GRCh38)
9:69203235
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41130005:G:C
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00034/4
(
ALFA)
C=0.00019/6
(GnomAD)
- HGVS:
9.
rs1488292148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTATA>-
[Show Flanks]
- Chromosome:
- 9:41126076
(GRCh38)
9:69199305
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41126071:TATAATTTATA:TATA
- Gene:
- LINC03025 (Varview), FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0.001096/13
(
ALFA)
-=0.000318/5
(TOMMO)
-=0.000701/88
(GnomAD)
-=0.009912/18
(Korea1K)
- HGVS:
10.
rs1488085537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:41129920
(GRCh38)
9:69203149
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41129919:C:T
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487084637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:41127285
(GRCh38)
9:69200514
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41127284:G:A
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000048/3
(GnomAD_exomes)
A=0.000177/3
(TOMMO)
A=0.000548/1
(Korea1K)
A=0.000692/2
(KOREAN)
- HGVS:
12.
rs1486378805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:41129502
(GRCh38)
9:69202731
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41129501:T:C
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00015/3
(GnomAD)
- HGVS:
13.
rs1486103246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:41130267
(GRCh38)
9:69203496
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41130266:A:C,NC_000009.12:41130266:A:G
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.01349/191
(
ALFA)
G=0.03453/1483
(GnomAD)
G=0.03611/65
(Korea1K)
G=0.05671/945
(TOMMO)
G=0.14885/415
(KOREAN)
A=0.5/17
(SGDP_PRJ)
- HGVS:
15.
rs1485540980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:41127885
(GRCh38)
9:69201115
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41127885:G:GG
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485520660 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATT>-
[Show Flanks]
- Chromosome:
- 9:41126076
(GRCh38)
9:69199305
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41126075:ATT:
- Gene:
- LINC03025 (Varview), FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01551/184
(
ALFA)
-=0.01734/290
(TOMMO)
-=0.01833/11
(NorthernSweden)
- HGVS:
17.
rs1485397782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:41129144
(GRCh38)
9:69202373
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41129143:A:G,NC_000009.12:41129143:A:T
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1484658768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:41127567
(GRCh38)
9:69200796
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41127566:G:A
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
19.
rs1484432939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAG>-
[Show Flanks]
- Chromosome:
- 9:41128775
(GRCh38)
9:69202004
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41128771:CAGACAG:CAG
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CAG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
20.
rs1484154669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:41128701
(GRCh38)
9:69201930
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41128700:A:G
- Gene:
- FOXD4L6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(GnomAD)
- HGVS: