Links from Gene
Items: 1 to 20 of 6327
1.
rs1491521499 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 18:24470520
(GRCh38)
18:22050484
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24470519:TG:
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000024/3
(GnomAD)
- HGVS:
2.
rs1491449389 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 18:24460370
(GRCh38)
18:22040334
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24460369:AA:
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.1041/386
(TWINSUK)
-=0.1183/456
(ALSPAC)
- HGVS:
3.
rs1491436364 has merged into rs201123969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 18:24460381
(GRCh38)
18:22040345
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24460379:ACA:A
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.07929/294
(TWINSUK)
-=0.09185/354
(ALSPAC)
-=0.13805/2314
(TOMMO)
-=0.14083/258
(Korea1K)
-=0.275/11
(GENOME_DK)
-=0.2815/27476
(GnomAD)
-=0.29181/171
(NorthernSweden)
- HGVS:
4.
rs1491222854 has merged into rs751424374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 18:24460378
(GRCh38)
18:22040342
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24460376:ACA:A
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.1249/463
(TWINSUK)
-=0.1349/520
(ALSPAC)
- HGVS:
5.
rs1491197128 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTTTTTG,TTTTTTTTTG,TTTTTTTTTGG
[Show Flanks]
- Chromosome:
- 18:24470520
(GRCh38)
18:22050485
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24470520::TTTTTTTG,NC_000018.10:24470520::TTTTTTTTTG,NC_000018.10:24470520::TTTTTTTTTGG
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TTTTTTTG=0.000027/3
(GnomAD)
TTTTTTTTTGG=0.000035/1
(TOMMO)
- HGVS:
7.
rs1490937028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:24461498
(GRCh38)
18:22041462
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24461497:C:T
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490831621 has merged into rs200257355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:24470512
(GRCh38)
18:22050476
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:24470501:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.24470512_24470520del, NC_000018.10:g.24470513_24470520del, NC_000018.10:g.24470514_24470520del, NC_000018.10:g.24470515_24470520del, NC_000018.10:g.24470516_24470520del, NC_000018.10:g.24470517_24470520del, NC_000018.10:g.24470518_24470520del, NC_000018.10:g.24470519_24470520del, NC_000018.10:g.24470520del, NC_000018.10:g.24470520dup, NC_000018.10:g.24470519_24470520dup, NC_000018.10:g.24470518_24470520dup, NC_000018.10:g.24470517_24470520dup, NC_000018.10:g.24470516_24470520dup, NC_000018.10:g.24470515_24470520dup, NC_000018.10:g.24470514_24470520dup, NC_000018.10:g.24470513_24470520dup, NC_000018.10:g.24470512_24470520dup, NC_000018.10:g.24470511_24470520dup, NC_000018.10:g.24470510_24470520dup, NC_000018.10:g.24470509_24470520dup, NC_000018.10:g.24470508_24470520dup, NC_000018.10:g.24470507_24470520dup, NC_000018.10:g.24470506_24470520dup, NC_000018.10:g.24470505_24470520dup, NC_000018.10:g.24470504_24470520dup, NC_000018.10:g.24470503_24470520dup, NC_000018.10:g.24470502_24470520dup, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.24470520_24470521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050476_22050484del, NC_000018.9:g.22050477_22050484del, NC_000018.9:g.22050478_22050484del, NC_000018.9:g.22050479_22050484del, NC_000018.9:g.22050480_22050484del, NC_000018.9:g.22050481_22050484del, NC_000018.9:g.22050482_22050484del, NC_000018.9:g.22050483_22050484del, NC_000018.9:g.22050484del, NC_000018.9:g.22050484dup, NC_000018.9:g.22050483_22050484dup, NC_000018.9:g.22050482_22050484dup, NC_000018.9:g.22050481_22050484dup, NC_000018.9:g.22050480_22050484dup, NC_000018.9:g.22050479_22050484dup, NC_000018.9:g.22050478_22050484dup, NC_000018.9:g.22050477_22050484dup, NC_000018.9:g.22050476_22050484dup, NC_000018.9:g.22050475_22050484dup, NC_000018.9:g.22050474_22050484dup, NC_000018.9:g.22050473_22050484dup, NC_000018.9:g.22050472_22050484dup, NC_000018.9:g.22050471_22050484dup, NC_000018.9:g.22050470_22050484dup, NC_000018.9:g.22050469_22050484dup, NC_000018.9:g.22050468_22050484dup, NC_000018.9:g.22050467_22050484dup, NC_000018.9:g.22050466_22050484dup, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.22050484_22050485insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1490775111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 18:24478622
(GRCh38)
18:22058586
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24478621:G:T
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490629190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:24482269
(GRCh38)
18:22062233
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24482268:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
11.
rs1490613951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 18:24479546
(GRCh38)
18:22059510
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24479545:T:G
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490470290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:24462136
(GRCh38)
18:22042100
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24462135:G:C
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490447268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 18:24461049
(GRCh38)
18:22041013
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24461048:G:A,NC_000018.10:24461048:G:C
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000106/2
(TOMMO)
A=0.001027/3
(KOREAN)
A=0.001092/2
(Korea1K)
G=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1490141437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:24463080
(GRCh38)
18:22043044
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24463079:G:A
- Gene:
- HRH4 (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:
15.
rs1490013791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 18:24470945
(GRCh38)
18:22050909
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24470944:A:T
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490001398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 18:24463489
(GRCh38)
18:22043453
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24463488:C:A,NC_000018.10:24463488:C:T
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1489969700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 18:24487525
(GRCh38)
18:22067489
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24487524:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489956520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:24486501
(GRCh38)
18:22066465
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24486500:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489888304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 18:24465734
(GRCh38)
18:22045698
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24465733:T:G
- Gene:
- HRH4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
20.
rs1489796203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:24480880
(GRCh38)
18:22060844
(GRCh37)
- Canonical SPDI:
- NC_000018.10:24480879:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000895/4
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000893/4
(Estonian)
- HGVS: