Links from Gene
Items: 1 to 20 of 1000
1.
rs1491326097 has merged into rs71191270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:48884977
(GRCh38)
4:48886994
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:48884956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
TG=0.4956/2482
(1000Genomes)
- HGVS:
NC_000004.12:g.48884957TG[10], NC_000004.12:g.48884957TG[11], NC_000004.12:g.48884957TG[12], NC_000004.12:g.48884957TG[13], NC_000004.12:g.48884957TG[14], NC_000004.12:g.48884957TG[15], NC_000004.12:g.48884957TG[16], NC_000004.12:g.48884957TG[17], NC_000004.12:g.48884957TG[18], NC_000004.12:g.48884957TG[19], NC_000004.12:g.48884957TG[20], NC_000004.12:g.48884957TG[21], NC_000004.12:g.48884957TG[22], NC_000004.12:g.48884957TG[23], NC_000004.12:g.48884957TG[24], NC_000004.12:g.48884957TG[26], NC_000004.12:g.48884957TG[27], NC_000004.12:g.48884957TG[28], NC_000004.12:g.48884957TG[29], NC_000004.12:g.48884957TG[30], NC_000004.12:g.48884957TG[31], NC_000004.12:g.48884957TG[32], NC_000004.12:g.48884957TG[35], NC_000004.11:g.48886974TG[10], NC_000004.11:g.48886974TG[11], NC_000004.11:g.48886974TG[12], NC_000004.11:g.48886974TG[13], NC_000004.11:g.48886974TG[14], NC_000004.11:g.48886974TG[15], NC_000004.11:g.48886974TG[16], NC_000004.11:g.48886974TG[17], NC_000004.11:g.48886974TG[18], NC_000004.11:g.48886974TG[19], NC_000004.11:g.48886974TG[20], NC_000004.11:g.48886974TG[21], NC_000004.11:g.48886974TG[22], NC_000004.11:g.48886974TG[23], NC_000004.11:g.48886974TG[24], NC_000004.11:g.48886974TG[26], NC_000004.11:g.48886974TG[27], NC_000004.11:g.48886974TG[28], NC_000004.11:g.48886974TG[29], NC_000004.11:g.48886974TG[30], NC_000004.11:g.48886974TG[31], NC_000004.11:g.48886974TG[32], NC_000004.11:g.48886974TG[35]
2.
rs1491179422 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:48884956
(GRCh38)
4:48886973
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48884955:TT:
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
3.
rs1490962444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:48897154
(GRCh38)
4:48899171
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48897153:C:G
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490754910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:48895749
(GRCh38)
4:48897766
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48895748:C:T
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490730930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:48899831
(GRCh38)
4:48901848
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48899830:C:G
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000004.12:g.48899831C>G, NC_000004.11:g.48901848C>G, NM_152398.4:c.161G>C, NM_152398.3:c.161G>C, NM_152398.2:c.161G>C, NM_001014446.3:c.161G>C, NM_001014446.2:c.161G>C, NM_001014446.1:c.161G>C, NM_001286773.2:c.161G>C, NM_001286773.1:c.161G>C, NP_689611.1:p.Arg54Thr, NP_001014446.1:p.Arg54Thr, NP_001273702.1:p.Arg54Thr
6.
rs1490664523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:48904778
(GRCh38)
4:48906795
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48904777:A:G
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490630441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:48904661
(GRCh38)
4:48906678
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48904660:A:C
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490613025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:48885556
(GRCh38)
4:48887573
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48885555:G:A,NC_000004.12:48885555:G:T
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000019/5
(TOPMED)
- HGVS:
NC_000004.12:g.48885556G>A, NC_000004.12:g.48885556G>T, NC_000004.11:g.48887573G>A, NC_000004.11:g.48887573G>T, NM_152398.4:c.275C>T, NM_152398.4:c.275C>A, NM_152398.3:c.275C>T, NM_152398.3:c.275C>A, NM_152398.2:c.275C>T, NM_152398.2:c.275C>A, NM_001014446.3:c.393C>T, NM_001014446.3:c.393C>A, NM_001014446.2:c.393C>T, NM_001014446.2:c.393C>A, NM_001014446.1:c.393C>T, NM_001014446.1:c.393C>A, NM_001286773.2:c.275C>T, NM_001286773.2:c.275C>A, NM_001286773.1:c.275C>T, NM_001286773.1:c.275C>A, NM_001286774.2:c.207C>T, NM_001286774.2:c.207C>A, NM_001286774.1:c.207C>T, NM_001286774.1:c.207C>A, NR_104589.1:n.357C>T, NR_104589.1:n.357C>A, NP_689611.1:p.Ser92Phe, NP_689611.1:p.Ser92Tyr, NP_001273702.1:p.Ser92Phe, NP_001273702.1:p.Ser92Tyr
9.
rs1490534553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:48888162
(GRCh38)
4:48890179
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48888161:C:T
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490262553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:48896230
(GRCh38)
4:48898247
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48896229:T:A
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- 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:
12.
rs1489774357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:48902888
(GRCh38)
4:48904905
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48902887:G:A
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
13.
rs1489754682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:48893667
(GRCh38)
4:48895684
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48893666:C:T
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489746217 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:48896726
(GRCh38)
4:48898743
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48896725:C:
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489596189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:48906369
(GRCh38)
4:48908386
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48906368:G:A
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489583545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:48889634
(GRCh38)
4:48891651
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48889633:A:G
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489529408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:48905679
(GRCh38)
4:48907696
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48905678:A:G
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489383556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:48885816
(GRCh38)
4:48887833
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48885815:T:A
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- 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:
19.
rs1489373780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:48886729
(GRCh38)
4:48888746
(GRCh37)
- Canonical SPDI:
- NC_000004.12:48886728:T:C
- Gene:
- OCIAD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: