Links from Gene
Items: 1 to 20 of 6876
1.
rs1491186262 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:37843953
(GRCh38)
19:38334593
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37843952:CA:
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00034/4
(
ALFA)
-=0.00043/12
(TOMMO)
- HGVS:
2.
rs1491059634 has merged into rs11375380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:37845431
(GRCh38)
19:38336071
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37845423:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.3/12
(GENOME_DK)
-=0.4852/2430
(1000Genomes)
- HGVS:
NC_000019.10:g.37845431_37845439del, NC_000019.10:g.37845433_37845439del, NC_000019.10:g.37845434_37845439del, NC_000019.10:g.37845435_37845439del, NC_000019.10:g.37845436_37845439del, NC_000019.10:g.37845437_37845439del, NC_000019.10:g.37845438_37845439del, NC_000019.10:g.37845439del, NC_000019.10:g.37845439dup, NC_000019.10:g.37845438_37845439dup, NC_000019.10:g.37845437_37845439dup, NC_000019.10:g.37845435_37845439dup, NC_000019.10:g.37845434_37845439dup, NC_000019.10:g.37845430_37845439dup, NC_000019.10:g.37845429_37845439dup, NC_000019.10:g.37845428_37845439dup, NC_000019.10:g.37845427_37845439dup, NC_000019.10:g.37845426_37845439dup, NC_000019.10:g.37845425_37845439dup, NC_000019.10:g.37845424_37845439dup, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.37845439_37845440insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336071_38336079del, NC_000019.9:g.38336073_38336079del, NC_000019.9:g.38336074_38336079del, NC_000019.9:g.38336075_38336079del, NC_000019.9:g.38336076_38336079del, NC_000019.9:g.38336077_38336079del, NC_000019.9:g.38336078_38336079del, NC_000019.9:g.38336079del, NC_000019.9:g.38336079dup, NC_000019.9:g.38336078_38336079dup, NC_000019.9:g.38336077_38336079dup, NC_000019.9:g.38336075_38336079dup, NC_000019.9:g.38336074_38336079dup, NC_000019.9:g.38336070_38336079dup, NC_000019.9:g.38336069_38336079dup, NC_000019.9:g.38336068_38336079dup, NC_000019.9:g.38336067_38336079dup, NC_000019.9:g.38336066_38336079dup, NC_000019.9:g.38336065_38336079dup, NC_000019.9:g.38336064_38336079dup, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38336079_38336080insAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491056048 has merged into rs369430669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:37851567
(GRCh38)
19:38342207
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37851552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.37851567_37851574del, NC_000019.10:g.37851569_37851574del, NC_000019.10:g.37851570_37851574del, NC_000019.10:g.37851572_37851574del, NC_000019.10:g.37851573_37851574del, NC_000019.10:g.37851574del, NC_000019.10:g.37851574dup, NC_000019.10:g.37851573_37851574dup, NC_000019.10:g.37851572_37851574dup, NC_000019.10:g.37851571_37851574dup, NC_000019.10:g.37851570_37851574dup, NC_000019.10:g.37851569_37851574dup, NC_000019.10:g.37851568_37851574dup, NC_000019.10:g.37851566_37851574dup, NC_000019.10:g.37851565_37851574dup, NC_000019.10:g.37851562_37851574dup, NC_000019.10:g.37851574_37851575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.37851574_37851575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.38342207_38342214del, NC_000019.9:g.38342209_38342214del, NC_000019.9:g.38342210_38342214del, NC_000019.9:g.38342212_38342214del, NC_000019.9:g.38342213_38342214del, NC_000019.9:g.38342214del, NC_000019.9:g.38342214dup, NC_000019.9:g.38342213_38342214dup, NC_000019.9:g.38342212_38342214dup, NC_000019.9:g.38342211_38342214dup, NC_000019.9:g.38342210_38342214dup, NC_000019.9:g.38342209_38342214dup, NC_000019.9:g.38342208_38342214dup, NC_000019.9:g.38342206_38342214dup, NC_000019.9:g.38342205_38342214dup, NC_000019.9:g.38342202_38342214dup, NC_000019.9:g.38342214_38342215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.38342214_38342215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1490990098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37847720
(GRCh38)
19:38338360
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37847719:A:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000033/4
(GnomAD)
- HGVS:
6.
rs1490959119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:37843033
(GRCh38)
19:38333673
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37843032:T:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0043/51
(
ALFA)
G=0.00209/7
(GnomAD)
G=0.00453/29
(1000Genomes)
T=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1490576819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37831460
(GRCh38)
19:38322100
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37831459:C:T
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
8.
rs1490550389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37832535
(GRCh38)
19:38323175
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37832534:A:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490459305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:37838297
(GRCh38)
19:38328937
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37838296:T:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490252376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37830455
(GRCh38)
19:38321095
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37830454:A:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490227470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37831590
(GRCh38)
19:38322230
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37831589:C:T
- Gene:
- WDR87BP (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:
14.
rs1490115451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37854482
(GRCh38)
19:38345122
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37854481:C:T
- Gene:
- WDR87BP (Varview), LOC105372395 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
15.
rs1490102664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37838463
(GRCh38)
19:38329103
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37838462:C:T
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490044978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37855177
(GRCh38)
19:38345817
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37855176:C:T
- Gene:
- WDR87BP (Varview), LOC105372395 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489968924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGTAAACA>-
[Show Flanks]
- Chromosome:
- 19:37837969
(GRCh38)
19:38328609
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37837967:AGGTAAACA:A
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
19.
rs1489846171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37847283
(GRCh38)
19:38337923
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37847282:A:G
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- 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:
20.
rs1489843974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:37838287
(GRCh38)
19:38328927
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37838286:G:A,NC_000019.10:37838286:G:C
- Gene:
- WDR87BP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.00011/8
(GnomAD)
- HGVS: