Links from Gene
Items: 1 to 20 of 1000
1.
rs1491484471 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 14:23956600
(GRCh38)
14:24425810
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23956600:T:TAT
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.00002/2
(GnomAD)
- HGVS:
2.
rs1491391109 has merged into rs1229716867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:23956611
(GRCh38)
14:24425820
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.23956611_23956621del, NC_000014.9:g.23956612_23956621del, NC_000014.9:g.23956615_23956621del, NC_000014.9:g.23956616_23956621del, NC_000014.9:g.23956617_23956621del, NC_000014.9:g.23956618_23956621del, NC_000014.9:g.23956619_23956621del, NC_000014.9:g.23956620_23956621del, NC_000014.9:g.23956621del, NC_000014.9:g.23956621dup, NC_000014.9:g.23956620_23956621dup, NC_000014.9:g.23956619_23956621dup, NC_000014.9:g.23956618_23956621dup, NC_000014.9:g.23956617_23956621dup, NC_000014.9:g.23956616_23956621dup, NC_000014.8:g.24425820_24425830del, NC_000014.8:g.24425821_24425830del, NC_000014.8:g.24425824_24425830del, NC_000014.8:g.24425825_24425830del, NC_000014.8:g.24425826_24425830del, NC_000014.8:g.24425827_24425830del, NC_000014.8:g.24425828_24425830del, NC_000014.8:g.24425829_24425830del, NC_000014.8:g.24425830del, NC_000014.8:g.24425830dup, NC_000014.8:g.24425829_24425830dup, NC_000014.8:g.24425828_24425830dup, NC_000014.8:g.24425827_24425830dup, NC_000014.8:g.24425826_24425830dup, NC_000014.8:g.24425825_24425830dup, NW_018654722.1:g.257590_257600del, NW_018654722.1:g.257591_257600del, NW_018654722.1:g.257594_257600del, NW_018654722.1:g.257595_257600del, NW_018654722.1:g.257596_257600del, NW_018654722.1:g.257597_257600del, NW_018654722.1:g.257598_257600del, NW_018654722.1:g.257599_257600del, NW_018654722.1:g.257600del, NW_018654722.1:g.257600dup, NW_018654722.1:g.257599_257600dup, NW_018654722.1:g.257598_257600dup, NW_018654722.1:g.257597_257600dup, NW_018654722.1:g.257596_257600dup, NW_018654722.1:g.257595_257600dup
3.
rs1491279150 has merged into rs546435038 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:23961540
(GRCh38)
14:24430749
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23961529:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.23961540_23961544del, NC_000014.9:g.23961541_23961544del, NC_000014.9:g.23961542_23961544del, NC_000014.9:g.23961543_23961544del, NC_000014.9:g.23961544del, NC_000014.9:g.23961544dup, NC_000014.9:g.23961543_23961544dup, NC_000014.9:g.23961542_23961544dup, NC_000014.9:g.23961541_23961544dup, NC_000014.8:g.24430749_24430753del, NC_000014.8:g.24430750_24430753del, NC_000014.8:g.24430751_24430753del, NC_000014.8:g.24430752_24430753del, NC_000014.8:g.24430753del, NC_000014.8:g.24430753dup, NC_000014.8:g.24430752_24430753dup, NC_000014.8:g.24430751_24430753dup, NC_000014.8:g.24430750_24430753dup, NW_018654722.1:g.262519_262523del, NW_018654722.1:g.262520_262523del, NW_018654722.1:g.262521_262523del, NW_018654722.1:g.262522_262523del, NW_018654722.1:g.262523del, NW_018654722.1:g.262523dup, NW_018654722.1:g.262522_262523dup, NW_018654722.1:g.262521_262523dup, NW_018654722.1:g.262520_262523dup
4.
rs1491258858 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:23956599
(GRCh38)
14:24425808
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23956598:CT:
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.014584/173
(
ALFA)
-=0.015869/1830
(GnomAD)
- HGVS:
6.
rs1491234980 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:23957557
(GRCh38)
14:24426766
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23957556:CT:
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.044933/533
(
ALFA)
-=0.071419/7747
(GnomAD)
- HGVS:
7.
rs1491219659 has merged into rs33966071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 14:23967181
(GRCh38)
14:24436390
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23967172:AAAAAAAAAA:AAAAAAAA,NC_000014.9:23967172:AAAAAAAAAA:AAAAAAAAA,NC_000014.9:23967172:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- DHRS4 (Varview), LOC124903290 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.020227/386
(
ALFA)
-=0.2/8
(GENOME_DK)
-=0.299868/79372
(TOPMED)
-=0.317333/1223
(ALSPAC)
-=0.323506/1602
(1000Genomes)
-=0.329558/1222
(TWINSUK)
-=0.349498/209
(NorthernSweden)
-=0.388325/64604
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.23967181_23967182del, NC_000014.9:g.23967182del, NC_000014.9:g.23967182dup, NC_000014.8:g.24436390_24436391del, NC_000014.8:g.24436391del, NC_000014.8:g.24436391dup, NG_023545.1:g.2308_2309del, NG_023545.1:g.2309del, NG_023545.1:g.2309dup, NW_018654722.1:g.268159_268160del, NW_018654722.1:g.268160del, NW_018654722.1:g.268160dup
8.
rs1491200493 has merged into rs1229716867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:23956611
(GRCh38)
14:24425820
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23956599:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.23956611_23956621del, NC_000014.9:g.23956612_23956621del, NC_000014.9:g.23956615_23956621del, NC_000014.9:g.23956616_23956621del, NC_000014.9:g.23956617_23956621del, NC_000014.9:g.23956618_23956621del, NC_000014.9:g.23956619_23956621del, NC_000014.9:g.23956620_23956621del, NC_000014.9:g.23956621del, NC_000014.9:g.23956621dup, NC_000014.9:g.23956620_23956621dup, NC_000014.9:g.23956619_23956621dup, NC_000014.9:g.23956618_23956621dup, NC_000014.9:g.23956617_23956621dup, NC_000014.9:g.23956616_23956621dup, NC_000014.8:g.24425820_24425830del, NC_000014.8:g.24425821_24425830del, NC_000014.8:g.24425824_24425830del, NC_000014.8:g.24425825_24425830del, NC_000014.8:g.24425826_24425830del, NC_000014.8:g.24425827_24425830del, NC_000014.8:g.24425828_24425830del, NC_000014.8:g.24425829_24425830del, NC_000014.8:g.24425830del, NC_000014.8:g.24425830dup, NC_000014.8:g.24425829_24425830dup, NC_000014.8:g.24425828_24425830dup, NC_000014.8:g.24425827_24425830dup, NC_000014.8:g.24425826_24425830dup, NC_000014.8:g.24425825_24425830dup, NW_018654722.1:g.257590_257600del, NW_018654722.1:g.257591_257600del, NW_018654722.1:g.257594_257600del, NW_018654722.1:g.257595_257600del, NW_018654722.1:g.257596_257600del, NW_018654722.1:g.257597_257600del, NW_018654722.1:g.257598_257600del, NW_018654722.1:g.257599_257600del, NW_018654722.1:g.257600del, NW_018654722.1:g.257600dup, NW_018654722.1:g.257599_257600dup, NW_018654722.1:g.257598_257600dup, NW_018654722.1:g.257597_257600dup, NW_018654722.1:g.257596_257600dup, NW_018654722.1:g.257595_257600dup
9.
rs1490669068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:23959994
(GRCh38)
14:24429203
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23959993:G:A
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.23959994G>A, NC_000014.8:g.24429203G>A, NW_018654722.1:g.260973G>A, NM_021004.4:c.399G>A, NM_021004.3:c.399G>A, NM_021004.2:c.399G>A, XM_011536366.3:c.399G>A, XM_011536366.2:c.399G>A, XM_011536366.1:c.399G>A, NM_001282987.2:c.399G>A, NM_001282987.1:c.399G>A, NM_001282989.2:c.399G>A, NM_001282989.1:c.399G>A, NM_001411004.1:c.399G>A, XM_047430883.1:c.399G>A
10.
rs1490591341 has merged into rs1296348700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAAAA>-,GAAAAAGAAAAA
[Show Flanks]
- Chromosome:
- 14:23967172
(GRCh38)
14:24436381
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23967154:AAAAAGAAAAAGAAAAAGAAAAA:AAAAAGAAAAAGAAAAA,NC_000014.9:23967154:AAAAAGAAAAAGAAAAAGAAAAA:AAAAAGAAAAAGAAAAAGAAAAAGAAAAA
- Gene:
- DHRS4 (Varview), LOC124903290 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAGAAAAAGAAAAAGAAAAAGAAAAA=0./0
(
ALFA)
- HGVS:
11.
rs1490516973 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:23955941
(GRCh38)
14:24425150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23955940:A:
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000029/4
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
12.
rs1490383441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 14:23960609
(GRCh38)
14:24429818
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23960608:C:A,NC_000014.9:23960608:C:G,NC_000014.9:23960608:C:T
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490211458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCG>-
[Show Flanks]
- Chromosome:
- 14:23960038
(GRCh38)
14:24429247
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23960036:GGCG:G
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000225/1
(
ALFA)
-=0.000354/6
(TOMMO)
-=0.000526/72
(GnomAD)
- HGVS:
15.
rs1490014671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:23960202
(GRCh38)
14:24429411
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23960201:T:C
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
16.
rs1489851490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:23954060
(GRCh38)
14:24423269
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23954059:G:A
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
17.
rs1489841707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:23963259
(GRCh38)
14:24432468
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23963258:G:A
- Gene:
- DHRS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
18.
rs1489794058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:23968472
(GRCh38)
14:24437681
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23968471:C:A,NC_000014.9:23968471:C:G
- Gene:
- DHRS4 (Varview), DHRS4L2 (Varview), LOC124903290 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489659972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:23967514
(GRCh38)
14:24436723
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23967513:C:T
- Gene:
- DHRS4 (Varview), LOC124903290 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489653102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:23954795
(GRCh38)
14:24424004
(GRCh37)
- Canonical SPDI:
- NC_000014.9:23954793:TGT:T
- Gene:
- DHRS4 (Varview), DHRS4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS: