Links from Gene
Items: 1 to 20 of 5460
1.
rs1491550928 has merged into rs71292987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 7:92131747
(GRCh38)
7:91761061
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:92131736:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign,likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.31987/190
(NorthernSweden)
T=0.325/13
(GENOME_DK)
T=0.36327/1347
(TWINSUK)
T=0.37779/1456
(ALSPAC)
- HGVS:
NC_000007.14:g.92131747_92131749del, NC_000007.14:g.92131748_92131749del, NC_000007.14:g.92131749del, NC_000007.14:g.92131749dup, NC_000007.14:g.92131748_92131749dup, NC_000007.14:g.92131747_92131749dup, NC_000007.14:g.92131746_92131749dup, NC_000007.13:g.91761061_91761063del, NC_000007.13:g.91761062_91761063del, NC_000007.13:g.91761063del, NC_000007.13:g.91761063dup, NC_000007.13:g.91761062_91761063dup, NC_000007.13:g.91761061_91761063dup, NC_000007.13:g.91761060_91761063dup, NG_007968.1:g.7788_7790del, NG_007968.1:g.7789_7790del, NG_007968.1:g.7790del, NG_007968.1:g.7790dup, NG_007968.1:g.7789_7790dup, NG_007968.1:g.7788_7790dup, NG_007968.1:g.7787_7790dup
2.
rs1491213025 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:92111868
(GRCh38)
7:91741182
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92111867:TA:
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000215/30
(GnomAD)
-=0.000419/111
(TOPMED)
-=0.00046/8
(TOMMO)
-=0.003435/17
(1000Genomes)
-=0.00463/1
(Vietnamese)
- HGVS:
3.
rs1491018692 has merged into rs1554479142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:92128443
(GRCh38)
7:91757757
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:92128428:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTG=0./0
(
ALFA)
TG=0.1281/475
(TWINSUK)
TG=0.1383/533
(ALSPAC)
- HGVS:
NC_000007.14:g.92128429TG[7], NC_000007.14:g.92128429TG[8], NC_000007.14:g.92128429TG[9], NC_000007.14:g.92128429TG[10], NC_000007.14:g.92128429TG[11], NC_000007.14:g.92128429TG[12], NC_000007.14:g.92128429TG[13], NC_000007.14:g.92128429TG[15], NC_000007.14:g.92128429TG[16], NC_000007.14:g.92128429TG[17], NC_000007.14:g.92128429TG[18], NC_000007.14:g.92128429TG[19], NC_000007.14:g.92128429TG[20], NC_000007.14:g.92128429TG[21], NC_000007.14:g.92128429TG[22], NC_000007.14:g.92128429TG[23], NC_000007.13:g.91757743TG[7], NC_000007.13:g.91757743TG[8], NC_000007.13:g.91757743TG[9], NC_000007.13:g.91757743TG[10], NC_000007.13:g.91757743TG[11], NC_000007.13:g.91757743TG[12], NC_000007.13:g.91757743TG[13], NC_000007.13:g.91757743TG[15], NC_000007.13:g.91757743TG[16], NC_000007.13:g.91757743TG[17], NC_000007.13:g.91757743TG[18], NC_000007.13:g.91757743TG[19], NC_000007.13:g.91757743TG[20], NC_000007.13:g.91757743TG[21], NC_000007.13:g.91757743TG[22], NC_000007.13:g.91757743TG[23], NG_007968.1:g.11071CA[7], NG_007968.1:g.11071CA[8], NG_007968.1:g.11071CA[9], NG_007968.1:g.11071CA[10], NG_007968.1:g.11071CA[11], NG_007968.1:g.11071CA[12], NG_007968.1:g.11071CA[13], NG_007968.1:g.11071CA[15], NG_007968.1:g.11071CA[16], NG_007968.1:g.11071CA[17], NG_007968.1:g.11071CA[18], NG_007968.1:g.11071CA[19], NG_007968.1:g.11071CA[20], NG_007968.1:g.11071CA[21], NG_007968.1:g.11071CA[22], NG_007968.1:g.11071CA[23]
4.
rs1490792137 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:92129154
(GRCh38)
7:91758468
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92129153:T:
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
5.
rs1490545634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:92118659
(GRCh38)
7:91747973
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92118658:T:C
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- 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:
6.
rs1490376951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92121347
(GRCh38)
7:91750661
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92121346:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490219538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92119754
(GRCh38)
7:91749068
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92119753:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490193733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:92120844
(GRCh38)
7:91750158
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92120843:G:T
- Gene:
- CYP51A1 (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:
9.
rs1490155320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:92119271
(GRCh38)
7:91748585
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92119270:A:G
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490104365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:92121570
(GRCh38)
7:91750884
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92121569:A:C
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489970160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92129779
(GRCh38)
7:91759093
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92129778:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489901019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGAGA
[Show Flanks]
- Chromosome:
- 7:92112165
(GRCh38)
7:91741479
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92112161:AGAGA:AGA,NC_000007.14:92112161:AGAGA:AGAGAGAGA
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGA=0./0
(
ALFA)
AGAG=0.000019/5
(TOPMED)
AGAG=0.00006/1
(TOMMO)
- HGVS:
NC_000007.14:g.92112163GA[1], NC_000007.14:g.92112163GA[4], NC_000007.13:g.91741477GA[1], NC_000007.13:g.91741477GA[4], NG_011623.1:g.176289GA[1], NG_011623.1:g.176289GA[4], NG_007968.1:g.27362CT[1], NG_007968.1:g.27362CT[4], NM_000786.4:c.*1500CT[1], NM_000786.4:c.*1500CT[4], NM_000786.3:c.*1500CT[1], NM_000786.3:c.*1500CT[4], NM_001146152.2:c.*1500CT[1], NM_001146152.2:c.*1500CT[4], NM_001146152.1:c.*1500CT[1], NM_001146152.1:c.*1500CT[4]
13.
rs1489874324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92120317
(GRCh38)
7:91749631
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92120316:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000036/5
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
14.
rs1489682758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:92117093
(GRCh38)
7:91746407
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92117092:C:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1489638058 has merged into rs367643212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAA>-,GAAAGAAA,GAAAGAAAGAAA
[Show Flanks]
- Chromosome:
- 7:92136517
(GRCh38)
7:91765831
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92136509:AAAGAAAGAAA:AAAGAAA,NC_000007.14:92136509:AAAGAAAGAAA:AAAGAAAGAAAGAAA,NC_000007.14:92136509:AAAGAAAGAAA:AAAGAAAGAAAGAAAGAAA
- Gene:
- CYP51A1 (Varview), CYP51A1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAGAAAGAAAGAAA=0.0503/753
(
ALFA)
AAAG=0.24664/147
(NorthernSweden)
- HGVS:
16.
rs1489635254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92118081
(GRCh38)
7:91747395
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92118080:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489431463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:92120583
(GRCh38)
7:91749897
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92120582:G:A
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489364007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:92134588
(GRCh38)
7:91763902
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92134587:C:G,NC_000007.14:92134587:C:T
- Gene:
- CYP51A1 (Varview), CYP51A1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489247744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 7:92136123
(GRCh38)
7:91765437
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92136120:TGTG:TG
- Gene:
- CYP51A1 (Varview), CYP51A1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489209293 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:92127227
(GRCh38)
7:91756541
(GRCh37)
- Canonical SPDI:
- NC_000007.14:92127226:G:
- Gene:
- CYP51A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000068/18
(TOPMED)
- HGVS: