Links from Gene
Items: 1 to 20 of 6578
2.
rs1491409479 has merged into rs58857432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAAAA
[Show Flanks]
- Chromosome:
- X:15367986
(GRCh38)
X:15386108
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15367984:AAAAA:A,NC_000023.11:15367984:AAAAA:AAA,NC_000023.11:15367984:AAAAA:AAAAAA
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.00045/7
(
ALFA)
-=0.02386/299
(TOMMO)
-=0.04846/140
(ALSPAC)
- HGVS:
3.
rs1491382624 has merged into rs1157575740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- X:15350775
(GRCh38)
X:15368898
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15350775:TCT:TCTCT
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TC=0.00006/5
(GnomAD)
- HGVS:
4.
rs1491359574 has merged into rs72308727 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- X:15352331
(GRCh38)
X:15370453
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:15352320:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.012675/3355
(TOPMED)
-=0.01956/56
(1000Genomes)
T=0.19795/734
(TWINSUK)
T=0.206992/598
(ALSPAC)
- HGVS:
NC_000023.11:g.15352331_15352332del, NC_000023.11:g.15352332del, NC_000023.11:g.15352332dup, NC_000023.11:g.15352331_15352332dup, NC_000023.11:g.15352330_15352332dup, NC_000023.11:g.15352328_15352332dup, NC_000023.10:g.15370453_15370454del, NC_000023.10:g.15370454del, NC_000023.10:g.15370454dup, NC_000023.10:g.15370453_15370454dup, NC_000023.10:g.15370452_15370454dup, NC_000023.10:g.15370450_15370454dup, NG_012509.1:g.37134_37135del, NG_012509.1:g.37135del, NG_012509.1:g.37135dup, NG_012509.1:g.37134_37135dup, NG_012509.1:g.37133_37135dup, NG_012509.1:g.37131_37135dup
5.
rs1491241639 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:15367985
(GRCh38)
X:15386108
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15367985::G
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.00008/3
(GnomAD)
- HGVS:
8.
rs1490910547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- X:15360514
(GRCh38)
X:15378636
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15360513:TTTTT:TTTT
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490831047 has merged into rs35997805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:15351040
(GRCh38)
X:15369162
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:15351027:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000023.11:g.15351040_15351064del, NC_000023.11:g.15351041_15351064del, NC_000023.11:g.15351042_15351064del, NC_000023.11:g.15351043_15351064del, NC_000023.11:g.15351044_15351064del, NC_000023.11:g.15351045_15351064del, NC_000023.11:g.15351046_15351064del, NC_000023.11:g.15351047_15351064del, NC_000023.11:g.15351048_15351064del, NC_000023.11:g.15351049_15351064del, NC_000023.11:g.15351050_15351064del, NC_000023.11:g.15351051_15351064del, NC_000023.11:g.15351052_15351064del, NC_000023.11:g.15351053_15351064del, NC_000023.11:g.15351054_15351064del, NC_000023.11:g.15351055_15351064del, NC_000023.11:g.15351056_15351064del, NC_000023.11:g.15351057_15351064del, NC_000023.11:g.15351058_15351064del, NC_000023.11:g.15351059_15351064del, NC_000023.11:g.15351060_15351064del, NC_000023.11:g.15351061_15351064del, NC_000023.11:g.15351062_15351064del, NC_000023.11:g.15351063_15351064del, NC_000023.11:g.15351064del, NC_000023.11:g.15351064dup, NC_000023.11:g.15351063_15351064dup, NC_000023.11:g.15351062_15351064dup, NC_000023.11:g.15351061_15351064dup, NC_000023.11:g.15351060_15351064dup, NC_000023.11:g.15351059_15351064dup, NC_000023.11:g.15351058_15351064dup, NC_000023.11:g.15351057_15351064dup, NC_000023.11:g.15351056_15351064dup, NC_000023.11:g.15351055_15351064dup, NC_000023.11:g.15351054_15351064dup, NC_000023.11:g.15351053_15351064dup, NC_000023.11:g.15351049_15351064dup, NC_000023.11:g.15351046_15351064dup, NC_000023.10:g.15369162_15369186del, NC_000023.10:g.15369163_15369186del, NC_000023.10:g.15369164_15369186del, NC_000023.10:g.15369165_15369186del, NC_000023.10:g.15369166_15369186del, NC_000023.10:g.15369167_15369186del, NC_000023.10:g.15369168_15369186del, NC_000023.10:g.15369169_15369186del, NC_000023.10:g.15369170_15369186del, NC_000023.10:g.15369171_15369186del, NC_000023.10:g.15369172_15369186del, NC_000023.10:g.15369173_15369186del, NC_000023.10:g.15369174_15369186del, NC_000023.10:g.15369175_15369186del, NC_000023.10:g.15369176_15369186del, NC_000023.10:g.15369177_15369186del, NC_000023.10:g.15369178_15369186del, NC_000023.10:g.15369179_15369186del, NC_000023.10:g.15369180_15369186del, NC_000023.10:g.15369181_15369186del, NC_000023.10:g.15369182_15369186del, NC_000023.10:g.15369183_15369186del, NC_000023.10:g.15369184_15369186del, NC_000023.10:g.15369185_15369186del, NC_000023.10:g.15369186del, NC_000023.10:g.15369186dup, NC_000023.10:g.15369185_15369186dup, NC_000023.10:g.15369184_15369186dup, NC_000023.10:g.15369183_15369186dup, NC_000023.10:g.15369182_15369186dup, NC_000023.10:g.15369181_15369186dup, NC_000023.10:g.15369180_15369186dup, NC_000023.10:g.15369179_15369186dup, NC_000023.10:g.15369178_15369186dup, NC_000023.10:g.15369177_15369186dup, NC_000023.10:g.15369176_15369186dup, NC_000023.10:g.15369175_15369186dup, NC_000023.10:g.15369171_15369186dup, NC_000023.10:g.15369168_15369186dup, NG_012509.1:g.38404_38428del, NG_012509.1:g.38405_38428del, NG_012509.1:g.38406_38428del, NG_012509.1:g.38407_38428del, NG_012509.1:g.38408_38428del, NG_012509.1:g.38409_38428del, NG_012509.1:g.38410_38428del, NG_012509.1:g.38411_38428del, NG_012509.1:g.38412_38428del, NG_012509.1:g.38413_38428del, NG_012509.1:g.38414_38428del, NG_012509.1:g.38415_38428del, NG_012509.1:g.38416_38428del, NG_012509.1:g.38417_38428del, NG_012509.1:g.38418_38428del, NG_012509.1:g.38419_38428del, NG_012509.1:g.38420_38428del, NG_012509.1:g.38421_38428del, NG_012509.1:g.38422_38428del, NG_012509.1:g.38423_38428del, NG_012509.1:g.38424_38428del, NG_012509.1:g.38425_38428del, NG_012509.1:g.38426_38428del, NG_012509.1:g.38427_38428del, NG_012509.1:g.38428del, NG_012509.1:g.38428dup, NG_012509.1:g.38427_38428dup, NG_012509.1:g.38426_38428dup, NG_012509.1:g.38425_38428dup, NG_012509.1:g.38424_38428dup, NG_012509.1:g.38423_38428dup, NG_012509.1:g.38422_38428dup, NG_012509.1:g.38421_38428dup, NG_012509.1:g.38420_38428dup, NG_012509.1:g.38419_38428dup, NG_012509.1:g.38418_38428dup, NG_012509.1:g.38417_38428dup, NG_012509.1:g.38413_38428dup, NG_012509.1:g.38410_38428dup
10.
rs1490815290 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- X:15350496
(GRCh38)
X:15368618
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15350495:CCCCC:CCCC,NC_000023.11:15350495:CCCCC:CCCCCC
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
11.
rs1490730958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:15373056
(GRCh38)
X:15391178
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15373055:T:C
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000045/1
(TOMMO)
- HGVS:
12.
rs1490636532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:15358064
(GRCh38)
X:15376186
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15358063:C:A,NC_000023.11:15358063:C:T
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS:
NC_000023.11:g.15358064C>A, NC_000023.11:g.15358064C>T, NC_000023.10:g.15376186C>A, NC_000023.10:g.15376186C>T, NG_012509.1:g.31392G>T, NG_012509.1:g.31392G>A, NM_004469.5:c.431G>T, NM_004469.5:c.431G>A, NM_004469.4:c.431G>T, NM_004469.4:c.431G>A, NR_037859.2:n.1406G>T, NR_037859.2:n.1406G>A, NP_004460.1:p.Gly144Val, NP_004460.1:p.Gly144Asp
13.
rs1490635700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15361334
(GRCh38)
X:15379456
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15361333:A:G
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490541904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15366833
(GRCh38)
X:15384955
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15366832:A:G
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1490334860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15386025
(GRCh38)
X:15404147
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15386024:A:G
- Gene:
- VEGFD (Varview), PIR (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490076541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:15361325
(GRCh38)
X:15379447
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15361324:T:C
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1489845768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15385332
(GRCh38)
X:15403454
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15385331:A:G
- Gene:
- VEGFD (Varview), PIR (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489837398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:15373944
(GRCh38)
X:15392066
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15373943:G:A
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000045/1
(TOMMO)
A=0.000208/1
(1000Genomes)
A=0.001027/3
(KOREAN)
- HGVS:
19.
rs1489823167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:15383644
(GRCh38)
X:15401766
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15383643:C:G,NC_000023.11:15383643:C:T
- Gene:
- VEGFD (Varview), PIR-FIGF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000019/2
(GnomAD)
- HGVS: