Links from Gene
Items: 1 to 20 of 1907
1.
rs1491456000 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:108519604
(GRCh38)
12:108913381
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108519603:TA:
- Gene:
- FICD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000825/113
(GnomAD)
-=0.0023/38
(TOMMO)
-=0.007326/4
(NorthernSweden)
-=0.012101/22
(Korea1K)
- HGVS:
2.
rs1491415854 has merged into rs11431127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:108520099
(GRCh38)
12:108913876
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FICD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.108520099_108520106del, NC_000012.12:g.108520102_108520106del, NC_000012.12:g.108520103_108520106del, NC_000012.12:g.108520104_108520106del, NC_000012.12:g.108520105_108520106del, NC_000012.12:g.108520106del, NC_000012.12:g.108520106dup, NC_000012.12:g.108520105_108520106dup, NC_000012.12:g.108520104_108520106dup, NC_000012.12:g.108520103_108520106dup, NC_000012.12:g.108520102_108520106dup, NC_000012.12:g.108520101_108520106dup, NC_000012.12:g.108520100_108520106dup, NC_000012.11:g.108913876_108913883del, NC_000012.11:g.108913879_108913883del, NC_000012.11:g.108913880_108913883del, NC_000012.11:g.108913881_108913883del, NC_000012.11:g.108913882_108913883del, NC_000012.11:g.108913883del, NC_000012.11:g.108913883dup, NC_000012.11:g.108913882_108913883dup, NC_000012.11:g.108913881_108913883dup, NC_000012.11:g.108913880_108913883dup, NC_000012.11:g.108913879_108913883dup, NC_000012.11:g.108913878_108913883dup, NC_000012.11:g.108913877_108913883dup, NM_007076.3:c.*624_*631del, NM_007076.3:c.*627_*631del, NM_007076.3:c.*628_*631del, NM_007076.3:c.*629_*631del, NM_007076.3:c.*630_*631del, NM_007076.3:c.*631del, NM_007076.3:c.*631dup, NM_007076.3:c.*630_*631dup, NM_007076.3:c.*629_*631dup, NM_007076.3:c.*628_*631dup, NM_007076.3:c.*627_*631dup, NM_007076.3:c.*626_*631dup, NM_007076.3:c.*625_*631dup
3.
rs1491264758 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:108513460
(GRCh38)
12:108907237
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108513458:ATA:A
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491156362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAGATAGGTAG,ATAGATAGTTAG,ATAGGTAG,ATAGTTAG,GTAG
[Show Flanks]
- Chromosome:
- 12:108513459
(GRCh38)
12:108907237
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108513459:TAG:TAGATAGATAGGTAG,NC_000012.12:108513459:TAG:TAGATAGATAGTTAG,NC_000012.12:108513459:TAG:TAGATAGGTAG,NC_000012.12:108513459:TAG:TAGATAGTTAG,NC_000012.12:108513459:TAG:TAGGTAG
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAGATAGATAGTTAG=0./0
(
ALFA)
- HGVS:
5.
rs1488885597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTT
[Show Flanks]
- Chromosome:
- 12:108520096
(GRCh38)
12:108913874
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108520096:TTT:TTTGTTT
- Gene:
- FICD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTGTTT=0./0
(
ALFA)
TTTG=0.000022/3
(GnomAD)
- HGVS:
6.
rs1488463705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:108514391
(GRCh38)
12:108908168
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108514390:G:A
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00006/1
(TOMMO)
A=0.000223/1
(Estonian)
- HGVS:
7.
rs1487586188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:108517325
(GRCh38)
12:108911102
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108517324:A:G
- Gene:
- FICD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487572238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:108515625
(GRCh38)
12:108909402
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108515624:G:A
- Gene:
- FICD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1487530789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:108516536
(GRCh38)
12:108910313
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108516535:G:A
- Gene:
- FICD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1486993230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:108514699
(GRCh38)
12:108908476
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108514698:A:G
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
13.
rs1486871787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:108517535
(GRCh38)
12:108911312
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108517534:G:A
- Gene:
- FICD (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:
15.
rs1486631228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:108513956
(GRCh38)
12:108907733
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108513955:A:G
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
16.
rs1486598106 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:108513372
(GRCh38)
12:108907149
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108513371:G:
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
17.
rs1485799179 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:108513768
(GRCh38)
12:108907545
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108513767:AAAA:AAA
- Gene:
- FICD (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485718889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 12:108519849
(GRCh38)
12:108913627
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108519849:ATA:ATATA
- Gene:
- FICD (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
AT=0.000015/4
(TOPMED)
AT=0.000029/4
(GnomAD)
- HGVS:
19.
rs1484430107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:108518213
(GRCh38)
12:108911990
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108518212:G:A
- Gene:
- FICD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1483804347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:108517073
(GRCh38)
12:108910850
(GRCh37)
- Canonical SPDI:
- NC_000012.12:108517072:T:C
- Gene:
- FICD (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(GnomAD_exomes)
- HGVS: