Links from Gene
Items: 1 to 20 of 1736
1.
rs1490570120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:104122810
(GRCh38)
10:105882568
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104122809:T:C
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490310637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:104126604
(GRCh38)
10:105886362
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104126603:C:A
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489266723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:104125069
(GRCh38)
10:105884827
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104125068:C:G
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1489195714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:104126180
(GRCh38)
10:105885938
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104126179:G:A,NC_000010.11:104126179:G:C
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000010.11:g.104126180G>A, NC_000010.11:g.104126180G>C, NC_000010.10:g.105885938G>A, NC_000010.10:g.105885938G>C, NM_145247.5:c.*476G>A, NM_145247.5:c.*476G>C, NM_145247.4:c.*476G>A, NM_145247.4:c.*476G>C, XM_005269521.4:c.*476G>A, XM_005269521.4:c.*476G>C, XM_005269521.3:c.*476G>A, XM_005269521.3:c.*476G>C, XM_005269521.2:c.*476G>A, XM_005269521.2:c.*476G>C, XM_005269521.1:c.*476G>A, XM_005269521.1:c.*476G>C, NM_001002759.2:c.*476G>A, NM_001002759.2:c.*476G>C, NM_001002759.1:c.*476G>A, NM_001002759.1:c.*476G>C, XM_047424579.1:c.*476G>A, XM_047424579.1:c.*476G>C, NM_001384830.1:c.*476G>A, NM_001384830.1:c.*476G>C, NM_001384829.1:c.*476G>A, NM_001384829.1:c.*476G>C
5.
rs1488503793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:104124953
(GRCh38)
10:105884711
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104124952:C:A,NC_000010.11:104124952:C:T
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487224752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:104120141
(GRCh38)
10:105879899
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104120140:T:C
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1486714548 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 10:104122535
(GRCh38)
10:105882294
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104122535:T:TT
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486501376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 10:104120984
(GRCh38)
10:105880742
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104120983:AAA:AA
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486472771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:104122627
(GRCh38)
10:105882385
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104122626:C:T
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486088056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:104121749
(GRCh38)
10:105881507
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104121748:A:G
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1485694986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:104126203
(GRCh38)
10:105885961
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104126202:A:G
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000010.11:g.104126203A>G, NC_000010.10:g.105885961A>G, NM_145247.5:c.*499A>G, NM_145247.4:c.*499A>G, XM_005269521.4:c.*499A>G, XM_005269521.3:c.*499A>G, XM_005269521.2:c.*499A>G, XM_005269521.1:c.*499A>G, NM_001002759.2:c.*499A>G, NM_001002759.1:c.*499A>G, XM_047424579.1:c.*499A>G, NM_001384830.1:c.*499A>G, NM_001384829.1:c.*499A>G
14.
rs1484451257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:104120925
(GRCh38)
10:105880683
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104120924:G:A,NC_000010.11:104120924:G:C
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1484422468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 10:104125835
(GRCh38)
10:105885593
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104125834:G:A,NC_000010.11:104125834:G:T
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000010.11:g.104125835G>A, NC_000010.11:g.104125835G>T, NC_000010.10:g.105885593G>A, NC_000010.10:g.105885593G>T, NM_145247.5:c.*131G>A, NM_145247.5:c.*131G>T, NM_145247.4:c.*131G>A, NM_145247.4:c.*131G>T, XM_005269521.4:c.*131G>A, XM_005269521.4:c.*131G>T, XM_005269521.3:c.*131G>A, XM_005269521.3:c.*131G>T, XM_005269521.2:c.*131G>A, XM_005269521.2:c.*131G>T, XM_005269521.1:c.*131G>A, XM_005269521.1:c.*131G>T, NM_001002759.2:c.*131G>A, NM_001002759.2:c.*131G>T, NM_001002759.1:c.*131G>A, NM_001002759.1:c.*131G>T, XM_047424579.1:c.*131G>A, XM_047424579.1:c.*131G>T, NM_001384830.1:c.*131G>A, NM_001384830.1:c.*131G>T, NM_001384829.1:c.*131G>A, NM_001384829.1:c.*131G>T
16.
rs1484389229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:104121900
(GRCh38)
10:105881658
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104121899:C:G
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1484373516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:104123108
(GRCh38)
10:105882866
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104123107:C:T
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000015/3
(GnomAD_exomes)
- HGVS:
18.
rs1484055100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:104120606
(GRCh38)
10:105880364
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104120605:T:C
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484021793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:104122755
(GRCh38)
10:105882513
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104122754:G:A
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483377184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:104122223
(GRCh38)
10:105881981
(GRCh37)
- Canonical SPDI:
- NC_000010.11:104122222:C:G,NC_000010.11:104122222:C:T
- Gene:
- SFR1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS: