Links from Gene
Items: 1 to 20 of 1000
2.
rs1491475230 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:1193684
(GRCh38)
4:1187472
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1193683:TA:
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00219/30
(TOMMO)
- HGVS:
3.
rs1491462962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:1179977
(GRCh38)
4:1173766
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1179977:G:GG
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491386543 has merged into rs58836347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:1185717
(GRCh38)
4:1179505
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0.475/19
(GENOME_DK)
- HGVS:
NC_000004.12:g.1185717_1185719del, NC_000004.12:g.1185718_1185719del, NC_000004.12:g.1185719del, NC_000004.12:g.1185719dup, NC_000004.12:g.1185718_1185719dup, NC_000004.12:g.1185717_1185719dup, NC_000004.12:g.1185716_1185719dup, NC_000004.12:g.1185715_1185719dup, NC_000004.12:g.1185714_1185719dup, NC_000004.12:g.1185713_1185719dup, NC_000004.12:g.1185712_1185719dup, NC_000004.12:g.1185711_1185719dup, NC_000004.12:g.1185710_1185719dup, NC_000004.12:g.1185709_1185719dup, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.1179505_1179507del, NC_000004.11:g.1179506_1179507del, NC_000004.11:g.1179507del, NC_000004.11:g.1179507dup, NC_000004.11:g.1179506_1179507dup, NC_000004.11:g.1179505_1179507dup, NC_000004.11:g.1179504_1179507dup, NC_000004.11:g.1179503_1179507dup, NC_000004.11:g.1179502_1179507dup, NC_000004.11:g.1179501_1179507dup, NC_000004.11:g.1179500_1179507dup, NC_000004.11:g.1179499_1179507dup, NC_000004.11:g.1179498_1179507dup, NC_000004.11:g.1179497_1179507dup, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491304040 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GG,GGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG
[Show Flanks]
- Chromosome:
- 4:1193684
(GRCh38)
4:1187473
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1193684::G,NC_000004.12:1193684::GG,NC_000004.12:1193684::GGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- inframe_insertion,coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.1193684_1193685insG, NC_000004.12:g.1193684_1193685insGG, NC_000004.12:g.1193684_1193685insGGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG, NC_000004.11:g.1187472_1187473insG, NC_000004.11:g.1187472_1187473insGG, NC_000004.11:g.1187472_1187473insGGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG, XM_047416478.1:c.99_100insG, XM_047416478.1:c.99_100insGG, XM_047416478.1:c.99_100insGGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG, XM_047416477.1:c.99_100insG, XM_047416477.1:c.99_100insGG, XM_047416477.1:c.99_100insGGGGGGTGTAGGAAGGACATGGGCGGTGTGGGAAGGACGTGG, XP_047272434.1:p.Arg34fs, XP_047272434.1:p.Arg34fs, XP_047272434.1:p.Arg34_Gly35insGlyGlyCysArgLysAspMetGlyGlyValGlyArgThrTrp, XP_047272433.1:p.Arg34fs, XP_047272433.1:p.Arg34fs, XP_047272433.1:p.Arg34_Gly35insGlyGlyCysArgLysAspMetGlyGlyValGlyArgThrTrp
6.
rs1491267552 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA
[Show Flanks]
- Chromosome:
- 4:1183239
(GRCh38)
4:1177028
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1183239::A,NC_000004.12:1183239::AA,NC_000004.12:1183239::AAA
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.00401/64
(TOMMO)
- HGVS:
7.
rs1491205002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAAAAAAGAA
[Show Flanks]
- Chromosome:
- 4:1185709
(GRCh38)
4:1179498
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1185709:AAAAAAAAAAGAA:AAAAAAAAAAGAAAAAAAAAAGAA
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAAAAGAAAAAAAAAAGAA=0.00008/1
(
ALFA)
AAAAAAAAAAG=0.00031/4
(GnomAD)
- HGVS:
8.
rs1491190078 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:1193846
(GRCh38)
4:1187635
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1193846::T
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00109/15
(TOMMO)
T=0.00196/3
(Korea1K)
- HGVS:
9.
rs1491182857 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 4:1183239
(GRCh38)
4:1177027
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1183238:TC:
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00028/5
(TOMMO)
- HGVS:
10.
rs1491157562 has merged into rs34537590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:1190003
(GRCh38)
4:1183791
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:1189989:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.0649/325
(1000Genomes)
-=0.25/10
(GENOME_DK)
-=0.2816/116
(NorthernSweden)
- HGVS:
NC_000004.12:g.1190003_1190007del, NC_000004.12:g.1190004_1190007del, NC_000004.12:g.1190005_1190007del, NC_000004.12:g.1190006_1190007del, NC_000004.12:g.1190007del, NC_000004.12:g.1190007dup, NC_000004.12:g.1190002_1190007dup, NC_000004.12:g.1189999_1190007dup, NC_000004.11:g.1183791_1183795del, NC_000004.11:g.1183792_1183795del, NC_000004.11:g.1183793_1183795del, NC_000004.11:g.1183794_1183795del, NC_000004.11:g.1183795del, NC_000004.11:g.1183795dup, NC_000004.11:g.1183790_1183795dup, NC_000004.11:g.1183787_1183795dup, XM_047416478.1:c.-3583_-3579del, XM_047416478.1:c.-3582_-3579del, XM_047416478.1:c.-3581_-3579del, XM_047416478.1:c.-3580_-3579del, XM_047416478.1:c.-3579del, XM_047416478.1:c.-3579dup, XM_047416478.1:c.-3584_-3579dup, XM_047416478.1:c.-3587_-3579dup
11.
rs1491124056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:1194941
(GRCh38)
4:1188730
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1194941:C:CC
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
12.
rs1491097443 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 4:1194941
(GRCh38)
4:1188729
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1194940:GC:
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00007/2
(TOMMO)
- HGVS:
13.
rs1490985962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:1197057
(GRCh38)
4:1190845
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1197056:C:G
- Gene:
- SPON2 (Varview), LOC100130872 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000132/2
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.00067/3
(Estonian)
- HGVS:
14.
rs1490905344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAG>-
[Show Flanks]
- Chromosome:
- 4:1187180
(GRCh38)
4:1180968
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1187173:AGAAAGAAAG:AGAAAG
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490850910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:1174297
(GRCh38)
4:1168085
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1174296:G:T
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
16.
rs1490816563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:1183531
(GRCh38)
4:1177319
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1183530:T:G
- Gene:
- SPON2 (Varview), LOC124900647 (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=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490798836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:1198480
(GRCh38)
4:1192268
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1198479:T:C,NC_000004.12:1198479:T:G
- Gene:
- SPON2 (Varview), LOC100130872 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
18.
rs1490740913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:1168491
(GRCh38)
4:1162279
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1168490:C:G
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490634426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:1198094
(GRCh38)
4:1191882
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1198093:A:C,NC_000004.12:1198093:A:G
- Gene:
- SPON2 (Varview), LOC100130872 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490442106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:1179003
(GRCh38)
4:1172791
(GRCh37)
- Canonical SPDI:
- NC_000004.12:1179002:G:A
- Gene:
- SPON2 (Varview), LOC124900647 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: