Links from Gene
Items: 1 to 20 of 8354
1.
rs1491519353 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 17:82409340
(GRCh38)
17:80367216
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82409339:AG:
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(ExAC)
-=0.000012/3
(GnomAD_exomes)
-=0.000036/5
(GnomAD)
-=0.000102/27
(TOPMED)
- HGVS:
2.
rs1491500364 has merged into rs1280516979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACCCCCCC>-,CACCCCCCCCACCCCCCC
[Show Flanks]
- Chromosome:
- 17:82418303
(GRCh38)
17:80376179
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82418295:CCCCCCCCACCCCCCC:CCCCCCC,NC_000017.11:82418295:CCCCCCCCACCCCCCC:CCCCCCCCACCCCCCCCACCCCCCC
- Gene:
- OGFOD3 (Varview), HEXD (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCACCCCCCCCACCCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
CCCCCCCCA=0.000112/4
(GnomAD)
- HGVS:
3.
rs1491492522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:82413893
(GRCh38)
17:80371769
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82413891:AGA:A
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000429/7
(
ALFA)
-=0.000244/32
(GnomAD)
- HGVS:
4.
rs1491411557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:82401824
(GRCh38)
17:80359700
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82401822:ACA:A
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000061/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490889375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:82395675
(GRCh38)
17:80353551
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82395674:G:A,NC_000017.11:82395674:G:T
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
7.
rs1490858255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 17:82397444
(GRCh38)
17:80355320
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82397443:C:A,NC_000017.11:82397443:C:G,NC_000017.11:82397443:C:T
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00014/2
(TOMMO)
- HGVS:
8.
rs1490776991 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:82393995
(GRCh38)
17:80351872
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82393995::C
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000253/3
(
ALFA)
C=0.000418/58
(GnomAD)
- HGVS:
9.
rs1490432015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82407262
(GRCh38)
17:80365138
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82407261:T:C
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
10.
rs1490416513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:82402200
(GRCh38)
17:80360076
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82402199:C:T
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
12.
rs1490292216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:82399503
(GRCh38)
17:80357379
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82399502:T:G
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490247934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:82418688
(GRCh38)
17:80376564
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82418687:G:C
- Gene:
- OGFOD3 (Varview), HEXD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000017.11:g.82418688G>C, NC_000017.10:g.80376564G>C, NM_173620.3:c.-104G>C, NM_173620.2:c.-104G>C, XM_017024484.2:c.-104G>C, XM_017024484.1:c.-104G>C, NM_001330542.2:c.-104G>C, NM_001330542.1:c.-104G>C, XR_007065293.1:n.342G>C, XR_007065292.1:n.342G>C, NM_001369487.1:c.-478G>C, XM_047435788.1:c.-104G>C, NM_001369488.1:c.-270G>C, XM_047435786.1:c.-104G>C
14.
rs1490143850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82406282
(GRCh38)
17:80364158
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82406281:G:A
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490072810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82396450
(GRCh38)
17:80354326
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82396449:G:A
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000447/2
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
16.
rs1490011432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82395210
(GRCh38)
17:80353086
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82395209:T:C
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489855200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82413227
(GRCh38)
17:80371103
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82413226:G:A
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489813347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82410339
(GRCh38)
17:80368215
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82410338:G:A
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
19.
rs1489779230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82399101
(GRCh38)
17:80356977
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82399100:G:A
- Gene:
- OGFOD3 (Varview), LOC124904090 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489757042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:82400316
(GRCh38)
17:80358192
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82400315:A:G
- Gene:
- OGFOD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: