Links from Gene
Items: 1 to 20 of 7782
1.
rs1491410792 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:100813295
(GRCh38)
7:100410918
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100813295:T:TT
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1491394848 has merged into rs33978512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:100817870
(GRCh38)
7:100415492
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100817859:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.100817870_100817883del, NC_000007.14:g.100817871_100817883del, NC_000007.14:g.100817872_100817883del, NC_000007.14:g.100817873_100817883del, NC_000007.14:g.100817874_100817883del, NC_000007.14:g.100817875_100817883del, NC_000007.14:g.100817876_100817883del, NC_000007.14:g.100817877_100817883del, NC_000007.14:g.100817878_100817883del, NC_000007.14:g.100817879_100817883del, NC_000007.14:g.100817880_100817883del, NC_000007.14:g.100817881_100817883del, NC_000007.14:g.100817882_100817883del, NC_000007.14:g.100817883del, NC_000007.14:g.100817883dup, NC_000007.14:g.100817882_100817883dup, NC_000007.14:g.100817881_100817883dup, NC_000007.14:g.100817880_100817883dup, NC_000007.14:g.100817879_100817883dup, NC_000007.14:g.100817878_100817883dup, NC_000007.14:g.100817877_100817883dup, NC_000007.14:g.100817876_100817883dup, NC_000007.14:g.100817875_100817883dup, NC_000007.14:g.100817874_100817883dup, NC_000007.14:g.100817873_100817883dup, NC_000007.14:g.100817872_100817883dup, NC_000007.14:g.100817871_100817883dup, NC_000007.14:g.100817870_100817883dup, NC_000007.14:g.100817869_100817883dup, NC_000007.14:g.100817867_100817883dup, NC_000007.13:g.100415492_100415505del, NC_000007.13:g.100415493_100415505del, NC_000007.13:g.100415494_100415505del, NC_000007.13:g.100415495_100415505del, NC_000007.13:g.100415496_100415505del, NC_000007.13:g.100415497_100415505del, NC_000007.13:g.100415498_100415505del, NC_000007.13:g.100415499_100415505del, NC_000007.13:g.100415500_100415505del, NC_000007.13:g.100415501_100415505del, NC_000007.13:g.100415502_100415505del, NC_000007.13:g.100415503_100415505del, NC_000007.13:g.100415504_100415505del, NC_000007.13:g.100415505del, NC_000007.13:g.100415505dup, NC_000007.13:g.100415504_100415505dup, NC_000007.13:g.100415503_100415505dup, NC_000007.13:g.100415502_100415505dup, NC_000007.13:g.100415501_100415505dup, NC_000007.13:g.100415500_100415505dup, NC_000007.13:g.100415499_100415505dup, NC_000007.13:g.100415498_100415505dup, NC_000007.13:g.100415497_100415505dup, NC_000007.13:g.100415496_100415505dup, NC_000007.13:g.100415495_100415505dup, NC_000007.13:g.100415494_100415505dup, NC_000007.13:g.100415493_100415505dup, NC_000007.13:g.100415492_100415505dup, NC_000007.13:g.100415491_100415505dup, NC_000007.13:g.100415489_100415505dup, NG_052671.1:g.14649_14662del, NG_052671.1:g.14650_14662del, NG_052671.1:g.14651_14662del, NG_052671.1:g.14652_14662del, NG_052671.1:g.14653_14662del, NG_052671.1:g.14654_14662del, NG_052671.1:g.14655_14662del, NG_052671.1:g.14656_14662del, NG_052671.1:g.14657_14662del, NG_052671.1:g.14658_14662del, NG_052671.1:g.14659_14662del, NG_052671.1:g.14660_14662del, NG_052671.1:g.14661_14662del, NG_052671.1:g.14662del, NG_052671.1:g.14662dup, NG_052671.1:g.14661_14662dup, NG_052671.1:g.14660_14662dup, NG_052671.1:g.14659_14662dup, NG_052671.1:g.14658_14662dup, NG_052671.1:g.14657_14662dup, NG_052671.1:g.14656_14662dup, NG_052671.1:g.14655_14662dup, NG_052671.1:g.14654_14662dup, NG_052671.1:g.14653_14662dup, NG_052671.1:g.14652_14662dup, NG_052671.1:g.14651_14662dup, NG_052671.1:g.14650_14662dup, NG_052671.1:g.14649_14662dup, NG_052671.1:g.14648_14662dup, NG_052671.1:g.14646_14662dup
3.
rs1491333995 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:100813307
(GRCh38)
7:100410930
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100813307::G
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00008/1
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491301708 has merged into rs750195537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:100813316
(GRCh38)
7:100410938
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:100813306:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000079/21
(TOPMED)
- HGVS:
NC_000007.14:g.100813316_100813329del, NC_000007.14:g.100813318_100813329del, NC_000007.14:g.100813319_100813329del, NC_000007.14:g.100813320_100813329del, NC_000007.14:g.100813321_100813329del, NC_000007.14:g.100813323_100813329del, NC_000007.14:g.100813324_100813329del, NC_000007.14:g.100813325_100813329del, NC_000007.14:g.100813326_100813329del, NC_000007.14:g.100813327_100813329del, NC_000007.14:g.100813328_100813329del, NC_000007.14:g.100813329del, NC_000007.14:g.100813329dup, NC_000007.14:g.100813328_100813329dup, NC_000007.14:g.100813327_100813329dup, NC_000007.14:g.100813326_100813329dup, NC_000007.14:g.100813325_100813329dup, NC_000007.14:g.100813324_100813329dup, NC_000007.14:g.100813317_100813329dup, NC_000007.14:g.100813316_100813329dup, NC_000007.14:g.100813313_100813329dup, NC_000007.14:g.100813329_100813330insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.100813329_100813330insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100410938_100410951del, NC_000007.13:g.100410940_100410951del, NC_000007.13:g.100410941_100410951del, NC_000007.13:g.100410942_100410951del, NC_000007.13:g.100410943_100410951del, NC_000007.13:g.100410945_100410951del, NC_000007.13:g.100410946_100410951del, NC_000007.13:g.100410947_100410951del, NC_000007.13:g.100410948_100410951del, NC_000007.13:g.100410949_100410951del, NC_000007.13:g.100410950_100410951del, NC_000007.13:g.100410951del, NC_000007.13:g.100410951dup, NC_000007.13:g.100410950_100410951dup, NC_000007.13:g.100410949_100410951dup, NC_000007.13:g.100410948_100410951dup, NC_000007.13:g.100410947_100410951dup, NC_000007.13:g.100410946_100410951dup, NC_000007.13:g.100410939_100410951dup, NC_000007.13:g.100410938_100410951dup, NC_000007.13:g.100410935_100410951dup, NC_000007.13:g.100410951_100410952insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.100410951_100410952insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052671.1:g.19202_19215del, NG_052671.1:g.19204_19215del, NG_052671.1:g.19205_19215del, NG_052671.1:g.19206_19215del, NG_052671.1:g.19207_19215del, NG_052671.1:g.19209_19215del, NG_052671.1:g.19210_19215del, NG_052671.1:g.19211_19215del, NG_052671.1:g.19212_19215del, NG_052671.1:g.19213_19215del, NG_052671.1:g.19214_19215del, NG_052671.1:g.19215del, NG_052671.1:g.19215dup, NG_052671.1:g.19214_19215dup, NG_052671.1:g.19213_19215dup, NG_052671.1:g.19212_19215dup, NG_052671.1:g.19211_19215dup, NG_052671.1:g.19210_19215dup, NG_052671.1:g.19203_19215dup, NG_052671.1:g.19202_19215dup, NG_052671.1:g.19199_19215dup, NG_052671.1:g.19215_19216insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052671.1:g.19215_19216insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491219865 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 7:100826965
(GRCh38)
7:100424587
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100826963:CGC:C
- Gene:
- EPHB4 (Varview), SLC12A9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.037001/770
(
ALFA)
-=0.012457/209
(TOMMO)
-=0.016376/30
(Korea1K)
-=0.019885/83
(Estonian)
-=0.03956/6063
(GnomAD_exomes)
-=0.05/2
(GENOME_DK)
-=0.051021/6635
(GnomAD)
-=0.051366/13596
(TOPMED)
-=0.063687/1529
(ExAC)
-=0.475/5700
(GoESP)
- HGVS:
7.
rs1491011925 has merged into rs5886141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 7:100811292
(GRCh38)
7:100408914
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100811278:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2668/1336
(1000Genomes)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000007.14:g.100811292_100811293del, NC_000007.14:g.100811293del, NC_000007.14:g.100811293dup, NC_000007.14:g.100811292_100811293dup, NC_000007.13:g.100408914_100408915del, NC_000007.13:g.100408915del, NC_000007.13:g.100408915dup, NC_000007.13:g.100408914_100408915dup, NG_052671.1:g.21242_21243del, NG_052671.1:g.21243del, NG_052671.1:g.21243dup, NG_052671.1:g.21242_21243dup
8.
rs1490823105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:100811678
(GRCh38)
7:100409300
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100811677:G:T
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490813751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100826865
(GRCh38)
7:100424487
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100826864:C:T
- Gene:
- EPHB4 (Varview), SLC12A9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_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:
10.
rs1490446260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:100808466
(GRCh38)
7:100406088
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100808465:A:G
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490423196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:100824986
(GRCh38)
7:100422608
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100824985:G:T
- Gene:
- EPHB4 (Varview), SLC12A9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490192281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:100803118
(GRCh38)
7:100400740
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100803117:G:A
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490054814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100805916
(GRCh38)
7:100403538
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100805915:C:T
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490039914 has merged into rs1227942508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 7:100808229
(GRCh38)
7:100405851
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100808228:TTTTTTT:TTTTTT,NC_000007.14:100808228:TTTTTTT:TTTTTTTT
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
16.
rs1489926508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:100805106
(GRCh38)
7:100402728
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100805105:T:A
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000216/4
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000893/4
(Estonian)
- HGVS:
17.
rs1489922161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:100805158
(GRCh38)
7:100402780
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100805157:C:G
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489919709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:100828313
(GRCh38)
7:100425935
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100828312:C:G,NC_000007.14:100828312:C:T
- Gene:
- EPHB4 (Varview), SLC12A9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
- HGVS:
19.
rs1489705793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:100820447
(GRCh38)
7:100418069
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100820446:A:C,NC_000007.14:100820446:A:G
- Gene:
- EPHB4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: