Links from Gene
Items: 1 to 20 of 1000
2.
rs1491343062 has merged into rs70962563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:185405012
(GRCh38)
4:186326166
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:185405002:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UFSP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
-=0.4381/2194
(1000Genomes)
- HGVS:
NC_000004.12:g.185405012_185405018del, NC_000004.12:g.185405013_185405018del, NC_000004.12:g.185405014_185405018del, NC_000004.12:g.185405015_185405018del, NC_000004.12:g.185405016_185405018del, NC_000004.12:g.185405017_185405018del, NC_000004.12:g.185405018del, NC_000004.12:g.185405018dup, NC_000004.12:g.185405017_185405018dup, NC_000004.12:g.185405016_185405018dup, NC_000004.12:g.185405015_185405018dup, NC_000004.12:g.185405014_185405018dup, NC_000004.12:g.185405013_185405018dup, NC_000004.12:g.185405012_185405018dup, NC_000004.12:g.185405011_185405018dup, NC_000004.12:g.185405010_185405018dup, NC_000004.12:g.185405009_185405018dup, NC_000004.12:g.185405008_185405018dup, NC_000004.12:g.185405007_185405018dup, NC_000004.12:g.185405005_185405018dup, NC_000004.12:g.185405004_185405018dup, NC_000004.12:g.185405018_185405019insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.185405018_185405019insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.185405018_185405019insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.185405018_185405019insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.186326166_186326172del, NC_000004.11:g.186326167_186326172del, NC_000004.11:g.186326168_186326172del, NC_000004.11:g.186326169_186326172del, NC_000004.11:g.186326170_186326172del, NC_000004.11:g.186326171_186326172del, NC_000004.11:g.186326172del, NC_000004.11:g.186326172dup, NC_000004.11:g.186326171_186326172dup, NC_000004.11:g.186326170_186326172dup, NC_000004.11:g.186326169_186326172dup, NC_000004.11:g.186326168_186326172dup, NC_000004.11:g.186326167_186326172dup, NC_000004.11:g.186326166_186326172dup, NC_000004.11:g.186326165_186326172dup, NC_000004.11:g.186326164_186326172dup, NC_000004.11:g.186326163_186326172dup, NC_000004.11:g.186326162_186326172dup, NC_000004.11:g.186326161_186326172dup, NC_000004.11:g.186326159_186326172dup, NC_000004.11:g.186326158_186326172dup, NC_000004.11:g.186326172_186326173insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.186326172_186326173insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.186326172_186326173insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.186326172_186326173insTTTTTTTTTTTTTTTTTTTTTT, NG_051609.1:g.25977_25983del, NG_051609.1:g.25978_25983del, NG_051609.1:g.25979_25983del, NG_051609.1:g.25980_25983del, NG_051609.1:g.25981_25983del, NG_051609.1:g.25982_25983del, NG_051609.1:g.25983del, NG_051609.1:g.25983dup, NG_051609.1:g.25982_25983dup, NG_051609.1:g.25981_25983dup, NG_051609.1:g.25980_25983dup, NG_051609.1:g.25979_25983dup, NG_051609.1:g.25978_25983dup, NG_051609.1:g.25977_25983dup, NG_051609.1:g.25976_25983dup, NG_051609.1:g.25975_25983dup, NG_051609.1:g.25974_25983dup, NG_051609.1:g.25973_25983dup, NG_051609.1:g.25972_25983dup, NG_051609.1:g.25970_25983dup, NG_051609.1:g.25969_25983dup, NG_051609.1:g.25983_25984insAAAAAAAAAAAAAAAAAAA, NG_051609.1:g.25983_25984insAAAAAAAAAAAAAAAAAAAA, NG_051609.1:g.25983_25984insAAAAAAAAAAAAAAAAAAAAA, NG_051609.1:g.25983_25984insAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491079358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:185400726
(GRCh38)
4:186321880
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185400724:TGT:T
- Gene:
- UFSP2 (Varview), ANKRD37 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490824217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:185427824
(GRCh38)
4:186348978
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185427823:T:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00141/23
(
ALFA)
G=0.00172/11
(1000Genomes)
G=0.00292/13
(Estonian)
G=0.00428/72
(TOMMO)
G=0.01129/33
(KOREAN)
- HGVS:
5.
rs1490658892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:185415486
(GRCh38)
4:186336640
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185415485:A:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
6.
rs1490640138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:185401469
(GRCh38)
4:186322623
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185401468:T:C
- Gene:
- UFSP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490532280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 4:185426918
(GRCh38)
4:186348072
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185426917:G:A,NC_000004.12:185426917:G:C,NC_000004.12:185426917:G:T
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.00006/1
(TOMMO)
A=0.002511/333
(GnomAD)
A=0.003123/20
(1000Genomes)
- HGVS:
NC_000004.12:g.185426918G>A, NC_000004.12:g.185426918G>C, NC_000004.12:g.185426918G>T, NC_000004.11:g.186348072G>A, NC_000004.11:g.186348072G>C, NC_000004.11:g.186348072G>T, NG_051609.1:g.4068C>T, NG_051609.1:g.4068C>G, NG_051609.1:g.4068C>A, XM_011531989.3:c.-407G>A, XM_011531989.3:c.-407G>C, XM_011531989.3:c.-407G>T, XM_017008240.2:c.-410G>A, XM_017008240.2:c.-410G>C, XM_017008240.2:c.-410G>T, XM_047415721.1:c.-489G>A, XM_047415721.1:c.-489G>C, XM_047415721.1:c.-489G>T, XM_047415722.1:c.-410G>A, XM_047415722.1:c.-410G>C, XM_047415722.1:c.-410G>T
8.
rs1490422701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAG>-
[Show Flanks]
- Chromosome:
- 4:185410362
(GRCh38)
4:186331516
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185410358:AAGAAAG:AAG
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAG=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.00005/7
(GnomAD)
- HGVS:
9.
rs1490310496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTG>-
[Show Flanks]
- Chromosome:
- 4:185425036
(GRCh38)
4:186346190
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185425034:GGTG:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
10.
rs1490129139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:185408983
(GRCh38)
4:186330137
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185408982:A:T
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490118212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:185418557
(GRCh38)
4:186339711
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185418556:A:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1490104373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:185423084
(GRCh38)
4:186344238
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185423083:C:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
13.
rs1489951533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:185412454
(GRCh38)
4:186333608
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185412453:A:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489841134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:185416039
(GRCh38)
4:186337193
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185416038:C:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
15.
rs1489787950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:185400955
(GRCh38)
4:186322109
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185400954:A:G
- Gene:
- UFSP2 (Varview), ANKRD37 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489673241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:185417193
(GRCh38)
4:186338347
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185417192:G:A
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489634913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:185427685
(GRCh38)
4:186348839
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185427684:A:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.039978/667
(
ALFA)
G=0.001026/17
(TOMMO)
G=0.001711/5
(KOREAN)
G=0.022333/2963
(GnomAD)
G=0.030918/198
(1000Genomes)
G=0.06026/269
(Estonian)
G=0.098333/59
(NorthernSweden)
A=0.5/14
(SGDP_PRJ)
- HGVS:
18.
rs1489512658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 4:185421300
(GRCh38)
4:186342454
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185421299:T:A,NC_000004.12:185421299:T:G
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489198333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:185425447
(GRCh38)
4:186346601
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185425446:T:A,NC_000004.12:185425446:T:C
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489138413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:185424554
(GRCh38)
4:186345708
(GRCh37)
- Canonical SPDI:
- NC_000004.12:185424553:G:A
- Gene:
- UFSP2 (Varview), C4orf47 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: