Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587639 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:11272018
(GRCh38)
1:11332075
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11272012:TCTCTCT:TCTCT
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000038/10
(TOPMED)
- HGVS:
3.
rs1491104852 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTC
[Show Flanks]
- Chromosome:
- 1:11282577
(GRCh38)
1:11342635
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11282577::TTTC
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTC=0./0
(
ALFA)
TTTC=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491098668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:11272013
(GRCh38)
1:11332071
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11272013:C:CC
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1491053758 has merged into rs34509238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:11282569
(GRCh38)
1:11342626
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.11282569_11282577del, NC_000001.11:g.11282571_11282577del, NC_000001.11:g.11282573_11282577del, NC_000001.11:g.11282574_11282577del, NC_000001.11:g.11282575_11282577del, NC_000001.11:g.11282576_11282577del, NC_000001.11:g.11282577del, NC_000001.11:g.11282577dup, NC_000001.11:g.11282576_11282577dup, NC_000001.11:g.11282575_11282577dup, NC_000001.11:g.11282574_11282577dup, NC_000001.11:g.11282573_11282577dup, NC_000001.11:g.11282571_11282577dup, NC_000001.10:g.11342626_11342634del, NC_000001.10:g.11342628_11342634del, NC_000001.10:g.11342630_11342634del, NC_000001.10:g.11342631_11342634del, NC_000001.10:g.11342632_11342634del, NC_000001.10:g.11342633_11342634del, NC_000001.10:g.11342634del, NC_000001.10:g.11342634dup, NC_000001.10:g.11342633_11342634dup, NC_000001.10:g.11342632_11342634dup, NC_000001.10:g.11342631_11342634dup, NC_000001.10:g.11342630_11342634dup, NC_000001.10:g.11342628_11342634dup, NG_009443.2:g.14372_14380del, NG_009443.2:g.14374_14380del, NG_009443.2:g.14376_14380del, NG_009443.2:g.14377_14380del, NG_009443.2:g.14378_14380del, NG_009443.2:g.14379_14380del, NG_009443.2:g.14380del, NG_009443.2:g.14380dup, NG_009443.2:g.14379_14380dup, NG_009443.2:g.14378_14380dup, NG_009443.2:g.14377_14380dup, NG_009443.2:g.14376_14380dup, NG_009443.2:g.14374_14380dup
6.
rs1490851097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:11273561
(GRCh38)
1:11333618
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11273560:G:A,NC_000001.11:11273560:G:T
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.11273561G>A, NC_000001.11:g.11273561G>T, NC_000001.10:g.11333618G>A, NC_000001.10:g.11333618G>T, NG_009443.2:g.5364G>A, NG_009443.2:g.5364G>T, NM_013319.3:c.30G>A, NM_013319.3:c.30G>T, NM_013319.2:c.30G>A, NM_013319.2:c.30G>T, NM_001330349.2:c.30G>A, NM_001330349.2:c.30G>T, NM_001330349.1:c.30G>A, NM_001330349.1:c.30G>T, NM_001330350.2:c.30G>A, NM_001330350.2:c.30G>T, NM_001330350.1:c.30G>A, NM_001330350.1:c.30G>T, XM_047418727.1:c.30G>A, XM_047418727.1:c.30G>T, NP_037451.1:p.Lys10Asn, NP_001317278.1:p.Lys10Asn, NP_001317279.1:p.Lys10Asn, XP_047274683.1:p.Lys10Asn
7.
rs1490846881 has merged into rs949736645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GGG
[Show Flanks]
- Chromosome:
- 1:11284439
(GRCh38)
1:11344496
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11284438:GGGGG:GGGG,NC_000001.11:11284438:GGGGG:GGGGGGG
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
8.
rs1490756206 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:11276993
(GRCh38)
1:11337050
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11276991:TTT:T
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490728293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:11276158
(GRCh38)
1:11336215
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11276157:A:C
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
10.
rs1490608630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:11291379
(GRCh38)
1:11351436
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11291378:GGG:GG
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
-=0.000546/1
(Korea1K)
- HGVS:
11.
rs1490407745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:11298965
(GRCh38)
1:11359022
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11298964:C:T
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490394971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:11274168
(GRCh38)
1:11334225
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11274167:C:T
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490384118 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:11284793
(GRCh38)
1:11344851
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11284793:T:TT
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490062376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:11298124
(GRCh38)
1:11358181
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11298123:T:A
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_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.
rs1490028359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:11283878
(GRCh38)
1:11343936
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11283878:AA:AAA
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489951183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:11299101
(GRCh38)
1:11359158
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11299100:T:C
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489828361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:11291825
(GRCh38)
1:11351882
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11291824:C:T
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489473010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:11278741
(GRCh38)
1:11338798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11278740:G:A
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489247284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:11295231
(GRCh38)
1:11355288
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11295230:C:G
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1488843543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:11292803
(GRCh38)
1:11352860
(GRCh37)
- Canonical SPDI:
- NC_000001.11:11292802:C:G
- Gene:
- UBIAD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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: