Links from Gene
Items: 1 to 20 of 5152
1.
rs1491541000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:48602867
(GRCh38)
19:49106124
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48602865:TAT:T
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000015/2
(GnomAD)
- HGVS:
2.
rs1491507021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:48608455
(GRCh38)
19:49111713
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48608455:A:AA
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
3.
rs1491489640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:48602866
(GRCh38)
19:49106124
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48602866:A:AA
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491478750 has merged into rs913336534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:48604336
(GRCh38)
19:49107593
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48604322:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.48604336_48604345del, NC_000019.10:g.48604339_48604345del, NC_000019.10:g.48604340_48604345del, NC_000019.10:g.48604341_48604345del, NC_000019.10:g.48604342_48604345del, NC_000019.10:g.48604343_48604345del, NC_000019.10:g.48604344_48604345del, NC_000019.10:g.48604345del, NC_000019.10:g.48604345dup, NC_000019.10:g.48604344_48604345dup, NC_000019.10:g.48604343_48604345dup, NC_000019.10:g.48604342_48604345dup, NC_000019.10:g.48604341_48604345dup, NC_000019.10:g.48604340_48604345dup, NC_000019.10:g.48604339_48604345dup, NC_000019.10:g.48604338_48604345dup, NC_000019.10:g.48604337_48604345dup, NC_000019.10:g.48604336_48604345dup, NC_000019.10:g.48604332_48604345dup, NC_000019.9:g.49107593_49107602del, NC_000019.9:g.49107596_49107602del, NC_000019.9:g.49107597_49107602del, NC_000019.9:g.49107598_49107602del, NC_000019.9:g.49107599_49107602del, NC_000019.9:g.49107600_49107602del, NC_000019.9:g.49107601_49107602del, NC_000019.9:g.49107602del, NC_000019.9:g.49107602dup, NC_000019.9:g.49107601_49107602dup, NC_000019.9:g.49107600_49107602dup, NC_000019.9:g.49107599_49107602dup, NC_000019.9:g.49107598_49107602dup, NC_000019.9:g.49107597_49107602dup, NC_000019.9:g.49107596_49107602dup, NC_000019.9:g.49107595_49107602dup, NC_000019.9:g.49107594_49107602dup, NC_000019.9:g.49107593_49107602dup, NC_000019.9:g.49107589_49107602dup
6.
rs1491329275 has merged into rs780157808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:48600658
(GRCh38)
19:49103915
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48600650:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.00502/3
(NorthernSweden)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000019.10:g.48600658_48600666del, NC_000019.10:g.48600660_48600666del, NC_000019.10:g.48600661_48600666del, NC_000019.10:g.48600664_48600666del, NC_000019.10:g.48600665_48600666del, NC_000019.10:g.48600666del, NC_000019.10:g.48600666dup, NC_000019.10:g.48600665_48600666dup, NC_000019.10:g.48600664_48600666dup, NC_000019.10:g.48600660_48600666dup, NC_000019.9:g.49103915_49103923del, NC_000019.9:g.49103917_49103923del, NC_000019.9:g.49103918_49103923del, NC_000019.9:g.49103921_49103923del, NC_000019.9:g.49103922_49103923del, NC_000019.9:g.49103923del, NC_000019.9:g.49103923dup, NC_000019.9:g.49103922_49103923dup, NC_000019.9:g.49103921_49103923dup, NC_000019.9:g.49103917_49103923dup, NG_029063.1:g.53487_53495del, NG_029063.1:g.53489_53495del, NG_029063.1:g.53490_53495del, NG_029063.1:g.53493_53495del, NG_029063.1:g.53494_53495del, NG_029063.1:g.53495del, NG_029063.1:g.53495dup, NG_029063.1:g.53494_53495dup, NG_029063.1:g.53493_53495dup, NG_029063.1:g.53489_53495dup, NM_017708.4:c.*450_*458del, NM_017708.4:c.*452_*458del, NM_017708.4:c.*453_*458del, NM_017708.4:c.*456_*458del, NM_017708.4:c.*457_*458del, NM_017708.4:c.*458del, NM_017708.4:c.*458dup, NM_017708.4:c.*457_*458dup, NM_017708.4:c.*456_*458dup, NM_017708.4:c.*452_*458dup, NM_017708.3:c.*450_*458del, NM_017708.3:c.*452_*458del, NM_017708.3:c.*453_*458del, NM_017708.3:c.*456_*458del, NM_017708.3:c.*457_*458del, NM_017708.3:c.*458del, NM_017708.3:c.*458dup, NM_017708.3:c.*457_*458dup, NM_017708.3:c.*456_*458dup, NM_017708.3:c.*452_*458dup, XM_024451561.2:c.*450_*458del, XM_024451561.2:c.*452_*458del, XM_024451561.2:c.*453_*458del, XM_024451561.2:c.*456_*458del, XM_024451561.2:c.*457_*458del, XM_024451561.2:c.*458del, XM_024451561.2:c.*458dup, XM_024451561.2:c.*457_*458dup, XM_024451561.2:c.*456_*458dup, XM_024451561.2:c.*452_*458dup
7.
rs1491327211 has merged into rs1318020997 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:48602166
(GRCh38)
19:49105423
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48602165:T:
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.016108/1853
(GnomAD)
- HGVS:
9.
rs1491147830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 19:48600651
(GRCh38)
19:49103909
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48600651:TT:TTCTT
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.000017/2
(GnomAD)
- HGVS:
10.
rs1491083148 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:48602165
(GRCh38)
19:49105422
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48602164:AT:
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00049/8
(
ALFA)
-=0.000045/1
(TOMMO)
-=0.000487/61
(GnomAD)
- HGVS:
11.
rs1490855869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:48606239
(GRCh38)
19:49109496
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48606238:A:G
- Gene:
- FAM83E (Varview), SPACA4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490587572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:48615835
(GRCh38)
19:49119092
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48615834:C:A,NC_000019.10:48615834:C:T
- Gene:
- RPL18 (Varview), FAM83E (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000319/5
(TOMMO)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
- HGVS:
13.
rs1490572098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:48616707
(GRCh38)
19:49119964
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48616706:C:A,NC_000019.10:48616706:C:T
- Gene:
- RPL18 (Varview), FAM83E (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
14.
rs1490428854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:48607750
(GRCh38)
19:49111007
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48607749:T:A,NC_000019.10:48607749:T:C
- Gene:
- FAM83E (Varview), SPACA4 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490339599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:48605011
(GRCh38)
19:49108268
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48605010:C:T
- Gene:
- FAM83E (Varview), SPACA4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000035/4
(GnomAD)
- HGVS:
16.
rs1490288234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:48604166
(GRCh38)
19:49107423
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48604165:G:A
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490274426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:48612707
(GRCh38)
19:49115964
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48612706:C:T
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489933871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:48611710
(GRCh38)
19:49114967
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48611709:C:A,NC_000019.10:48611709:C:T
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489160619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:48612743
(GRCh38)
19:49116000
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48612742:A:T
- Gene:
- FAM83E (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:
20.
rs1489157282 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGAT
[Show Flanks]
- Chromosome:
- 19:48611849
(GRCh38)
19:49115107
(GRCh37)
- Canonical SPDI:
- NC_000019.10:48611849:TAGGAT:TAGGATAGGAT
- Gene:
- FAM83E (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAGGATAGGAT=0.0002/1
(
ALFA)
- HGVS: