Links from Gene
Items: 1 to 20 of 6860
2.
rs1491490171 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTGTGTG,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 1:16470377
(GRCh38)
1:16796873
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16470377:TG:TGAGTGTGTG,NC_000001.11:16470377:TG:TGTG,NC_000001.11:16470377:TG:TGTGTG,NC_000001.11:16470377:TG:TGTGTGTG,NC_000001.11:16470377:TG:TGTGTGTGTGTG,NC_000001.11:16470377:TG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:16470377:TG:TGTGTGTGTGTGTGTGTGTGTG
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTG=0./0
(
ALFA)
TGTG=0.00021/4
(TOMMO)
- HGVS:
NC_000001.11:g.16470379_16470380insAGTGTGTG, NC_000001.11:g.16470378_16470379dup, NC_000001.11:g.16470378TG[3], NC_000001.11:g.16470378TG[4], NC_000001.11:g.16470378TG[6], NC_000001.11:g.16470378TG[10], NC_000001.11:g.16470378TG[11], NC_000001.10:g.16796874_16796875insAGTGTGTG, NC_000001.10:g.16796873_16796874dup, NC_000001.10:g.16796873TG[3], NC_000001.10:g.16796873TG[4], NC_000001.10:g.16796873TG[6], NC_000001.10:g.16796873TG[10], NC_000001.10:g.16796873TG[11], NW_025791756.1:g.274644_274645insAGTGTGTG, NW_025791756.1:g.274643_274644dup, NW_025791756.1:g.274643TG[3], NW_025791756.1:g.274643TG[4], NW_025791756.1:g.274643TG[6], NW_025791756.1:g.274643TG[10], NW_025791756.1:g.274643TG[11]
3.
rs1491231677 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:16470377
(GRCh38)
1:16796872
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16470376:AT:
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00051/6
(
ALFA)
-=0.00081/44
(GnomAD)
- HGVS:
4.
rs1491222533 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:16483829
(GRCh38)
1:16810324
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16483828:CA:
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001602/19
(
ALFA)
-=0.000937/6
(1000Genomes)
-=0.001647/204
(GnomAD)
- HGVS:
5.
rs1490944714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:16467807
(GRCh38)
1:16794302
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16467804:CTCT:CT
- Gene:
- CROCCP3 (Varview), LINC01772 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
6.
rs1490592479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTTTCTTTTTT>-
[Show Flanks]
- Chromosome:
- 1:16481613
(GRCh38)
1:16808108
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16481595:TTTTCTTTTTCTTTTTTCTTTTTCTTTTTT:TTTTCTTTTTCTTTTTT
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTCTTTTTCTTTTTT=0.000169/2
(
ALFA)
-=0.000424/59
(GnomAD)
- HGVS:
9.
rs1490355814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16476612
(GRCh38)
1:16803107
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16476611:C:T
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490246493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:16484378
(GRCh38)
1:16810873
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16484377:G:A,NC_000001.11:16484377:G:C
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
C=0.000119/2
(TOMMO)
A=0.000686/2
(KOREAN)
- HGVS:
11.
rs1490244466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:16477806
(GRCh38)
1:16804301
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16477805:C:G,NC_000001.11:16477805:C:T
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
12.
rs1490061209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:16494255
(GRCh38)
1:16820750
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16494254:C:G,NC_000001.11:16494254:C:T
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
13.
rs1490042892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:16483259
(GRCh38)
1:16809754
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16483258:G:T
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
14.
rs1489877714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16483529
(GRCh38)
1:16810024
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16483528:G:A
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489814274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16471051
(GRCh38)
1:16797546
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16471050:G:A
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489713001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:16491849
(GRCh38)
1:16818344
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16491848:T:G
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_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.
rs1489504441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16474479
(GRCh38)
1:16800974
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16474478:G:A
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489488638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16486972
(GRCh38)
1:16813467
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16486971:C:T
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1489415380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16486274
(GRCh38)
1:16812769
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16486273:G:A
- Gene:
- CROCCP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: