Links from Protein
Items: 1 to 20 of 766
2.
rs1487432253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:117247
(GRCh38)
9:117247
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117246:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1481475561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:117094
(GRCh38)
9:117094
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117093:G:C
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1479046191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:117976
(GRCh38)
9:117976
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117975:C:G,NC_000009.12:117975:C:T
- Gene:
- FOXD4 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.117976C>G, NC_000009.12:g.117976C>T, NC_000009.11:g.117976C>G, NC_000009.11:g.117976C>T, NG_032165.1:g.5442G>C, NG_032165.1:g.5442G>A, NM_207305.5:c.144G>C, NM_207305.5:c.144G>A, NM_207305.4:c.144G>C, NM_207305.4:c.144G>A, NP_997188.2:p.Glu48Asp
5.
rs1478850981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 9:118116
(GRCh38)
9:118116
(GRCh37)
- Canonical SPDI:
- NC_000009.12:118115:T:A,NC_000009.12:118115:T:G
- Gene:
- FOXD4 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000056/2
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000009.12:g.118116T>A, NC_000009.12:g.118116T>G, NC_000009.11:g.118116T>A, NC_000009.11:g.118116T>G, NG_032165.1:g.5302A>T, NG_032165.1:g.5302A>C, NM_207305.5:c.4A>T, NM_207305.5:c.4A>C, NM_207305.4:c.4A>T, NM_207305.4:c.4A>C, NP_997188.2:p.Asn2Tyr, NP_997188.2:p.Asn2His
7.
rs1475305127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:116885
(GRCh38)
9:116885
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116884:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1474517353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:116816
(GRCh38)
9:116816
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116815:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1473817742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:116998
(GRCh38)
9:116998
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116997:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1472701090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:117253
(GRCh38)
9:117253
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117252:C:A,NC_000009.12:117252:C:T
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1470748805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:116858
(GRCh38)
9:116858
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116857:G:A,NC_000009.12:116857:G:T
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000009.12:g.116858G>A, NC_000009.12:g.116858G>T, NC_000009.11:g.116858G>A, NC_000009.11:g.116858G>T, NG_032165.1:g.6560C>T, NG_032165.1:g.6560C>A, NM_207305.5:c.1262C>T, NM_207305.5:c.1262C>A, NM_207305.4:c.1262C>T, NM_207305.4:c.1262C>A, NP_997188.2:p.Pro421Leu, NP_997188.2:p.Pro421Gln
12.
rs1470224020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:117374
(GRCh38)
9:117374
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117373:G:A,NC_000009.12:117373:G:C
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000094/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000009.12:g.117374G>A, NC_000009.12:g.117374G>C, NC_000009.11:g.117374G>A, NC_000009.11:g.117374G>C, NG_032165.1:g.6044C>T, NG_032165.1:g.6044C>G, NM_207305.5:c.746C>T, NM_207305.5:c.746C>G, NM_207305.4:c.746C>T, NM_207305.4:c.746C>G, NP_997188.2:p.Thr249Ile, NP_997188.2:p.Thr249Ser
13.
rs1468001517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:117186
(GRCh38)
9:117186
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117185:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1466687252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:116810
(GRCh38)
9:116810
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116809:C:T
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1466664464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:117547
(GRCh38)
9:117547
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117546:G:C
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1464940091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:117351
(GRCh38)
9:117351
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117350:C:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1464539502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:117592
(GRCh38)
9:117592
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117591:G:A
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1463400242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:116954
(GRCh38)
9:116954
(GRCh37)
- Canonical SPDI:
- NC_000009.12:116953:A:G
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
G=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1463133919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:117185
(GRCh38)
9:117185
(GRCh37)
- Canonical SPDI:
- NC_000009.12:117184:C:A,NC_000009.12:117184:C:T
- Gene:
- FOXD4 (Varview), LINC01388 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.117185C>A, NC_000009.12:g.117185C>T, NC_000009.11:g.117185C>A, NC_000009.11:g.117185C>T, NG_032165.1:g.6233G>T, NG_032165.1:g.6233G>A, NM_207305.5:c.935G>T, NM_207305.5:c.935G>A, NM_207305.4:c.935G>T, NM_207305.4:c.935G>A, NP_997188.2:p.Arg312Leu, NP_997188.2:p.Arg312His