Links from Gene
Items: 1 to 20 of 1000
1.
rs1491572543 has merged into rs56917645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA
[Show Flanks]
- Chromosome:
- 4:86883999
(GRCh38)
4:87805152
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86883998:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:86883998:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:86883998:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0.0001/1
(
ALFA)
-=0.0853/235
(1000Genomes)
A=0.4355/1937
(Estonian)
A=0.4525/1678
(TWINSUK)
A=0.4574/1763
(ALSPAC)
-=0.475/19
(GENOME_DK)
A=0.4799/287
(NorthernSweden)
- HGVS:
2.
rs1491547603 has merged into rs111401943 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 4:86881689
(GRCh38)
4:87802842
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86881678:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86881678:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86881678:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86881678:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.14/84
(NorthernSweden)
T=0.17934/665
(TWINSUK)
T=0.18171/910
(1000Genomes)
T=0.19071/735
(ALSPAC)
T=0.20961/384
(Korea1K)
- HGVS:
3.
rs1491463060 has merged into rs1169159891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 4:86893864
(GRCh38)
4:87815017
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86893862:TTTTT:T,NC_000004.12:86893862:TTTTT:TTT,NC_000004.12:86893862:TTTTT:TTTTTT,NC_000004.12:86893862:TTTTT:TTTTTTTTT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491352713 has merged into rs150771483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:86884319
(GRCh38)
4:87805472
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86884299:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.00149/25
(TOMMO)
- HGVS:
NC_000004.12:g.86884319_86884322del, NC_000004.12:g.86884320_86884322del, NC_000004.12:g.86884321_86884322del, NC_000004.12:g.86884322del, NC_000004.12:g.86884322dup, NC_000004.12:g.86884321_86884322dup, NC_000004.12:g.86884320_86884322dup, NC_000004.12:g.86884318_86884322dup, NC_000004.11:g.87805472_87805475del, NC_000004.11:g.87805473_87805475del, NC_000004.11:g.87805474_87805475del, NC_000004.11:g.87805475del, NC_000004.11:g.87805475dup, NC_000004.11:g.87805474_87805475dup, NC_000004.11:g.87805473_87805475dup, NC_000004.11:g.87805471_87805475dup
5.
rs1491152741 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:86891293
(GRCh38)
4:87812446
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86891292:CA:
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00303/36
(
ALFA)
-=0.00127/32
(GnomAD)
-=0.01699/63
(TWINSUK)
-=0.01713/66
(ALSPAC)
- HGVS:
6.
rs1491127947 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:86893863
(GRCh38)
4:87815017
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86893863::A
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000938/118
(GnomAD)
- HGVS:
7.
rs1491078067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 4:86891295
(GRCh38)
4:87812449
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86891295:A:ACA
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491060496 has merged into rs60255436 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 4:86878092
(GRCh38)
4:87799245
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86878082:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:86878082:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86878082:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:86878082:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.002261/35
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.033265/8805
(TOPMED)
-=0.047409/236
(1000Genomes)
- HGVS:
9.
rs1491018116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGT
[Show Flanks]
- Chromosome:
- 4:86884321
(GRCh38)
4:87805475
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86884321:T:TTGT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTGT=0./0
(
ALFA)
TTG=0.00001/1
(GnomAD)
- HGVS:
10.
rs1490753234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86886032
(GRCh38)
4:87807185
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86886031:C:T
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00053/9
(TOMMO)
- HGVS:
11.
rs1490693481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:86891024
(GRCh38)
4:87812177
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86891023:T:C
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490522646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:86885006
(GRCh38)
4:87806159
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86885005:T:C
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490364556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:86881264
(GRCh38)
4:87802417
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86881263:T:C
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
14.
rs1490315104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:86883370
(GRCh38)
4:87804523
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86883369:G:T
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490203345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:86891352
(GRCh38)
4:87812505
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86891351:G:A,NC_000004.12:86891351:G:T
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490107753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:86898802
(GRCh38)
4:87819955
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86898801:A:C
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1489944858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:86898186
(GRCh38)
4:87819339
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86898185:G:A,NC_000004.12:86898185:G:C
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489920570 has merged into rs34406567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:86875714
(GRCh38)
4:87796867
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86875702:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.86875714_86875725del, NC_000004.12:g.86875716_86875725del, NC_000004.12:g.86875717_86875725del, NC_000004.12:g.86875718_86875725del, NC_000004.12:g.86875719_86875725del, NC_000004.12:g.86875720_86875725del, NC_000004.12:g.86875721_86875725del, NC_000004.12:g.86875722_86875725del, NC_000004.12:g.86875723_86875725del, NC_000004.12:g.86875724_86875725del, NC_000004.12:g.86875725del, NC_000004.12:g.86875725dup, NC_000004.12:g.86875724_86875725dup, NC_000004.12:g.86875723_86875725dup, NC_000004.12:g.86875722_86875725dup, NC_000004.12:g.86875720_86875725dup, NC_000004.12:g.86875719_86875725dup, NC_000004.12:g.86875718_86875725dup, NC_000004.12:g.86875717_86875725dup, NC_000004.12:g.86875716_86875725dup, NC_000004.12:g.86875715_86875725dup, NC_000004.12:g.86875714_86875725dup, NC_000004.12:g.86875713_86875725dup, NC_000004.12:g.86875712_86875725dup, NC_000004.12:g.86875711_86875725dup, NC_000004.12:g.86875710_86875725dup, NC_000004.12:g.86875709_86875725dup, NC_000004.12:g.86875708_86875725dup, NC_000004.12:g.86875707_86875725dup, NC_000004.12:g.86875725_86875726insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.86875725_86875726insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.87796867_87796878del, NC_000004.11:g.87796869_87796878del, NC_000004.11:g.87796870_87796878del, NC_000004.11:g.87796871_87796878del, NC_000004.11:g.87796872_87796878del, NC_000004.11:g.87796873_87796878del, NC_000004.11:g.87796874_87796878del, NC_000004.11:g.87796875_87796878del, NC_000004.11:g.87796876_87796878del, NC_000004.11:g.87796877_87796878del, NC_000004.11:g.87796878del, NC_000004.11:g.87796878dup, NC_000004.11:g.87796877_87796878dup, NC_000004.11:g.87796876_87796878dup, NC_000004.11:g.87796875_87796878dup, NC_000004.11:g.87796873_87796878dup, NC_000004.11:g.87796872_87796878dup, NC_000004.11:g.87796871_87796878dup, NC_000004.11:g.87796870_87796878dup, NC_000004.11:g.87796869_87796878dup, NC_000004.11:g.87796868_87796878dup, NC_000004.11:g.87796867_87796878dup, NC_000004.11:g.87796866_87796878dup, NC_000004.11:g.87796865_87796878dup, NC_000004.11:g.87796864_87796878dup, NC_000004.11:g.87796863_87796878dup, NC_000004.11:g.87796862_87796878dup, NC_000004.11:g.87796861_87796878dup, NC_000004.11:g.87796860_87796878dup, NC_000004.11:g.87796878_87796879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.87796878_87796879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1489824682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:86882852
(GRCh38)
4:87804005
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86882851:G:A
- Gene:
- C4orf36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: