Links from Gene
Items: 1 to 20 of 3856
1.
rs1490989954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:8587520
(GRCh38)
4:8589247
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8587519:T:C
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490497735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:8587825
(GRCh38)
4:8589552
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8587824:C:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000038/10
(TOPMED)
- HGVS:
3.
rs1490387631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:8581630
(GRCh38)
4:8583357
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8581629:G:A,NC_000004.12:8581629:G:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490267868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:8578836
(GRCh38)
4:8580563
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8578835:G:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1489987195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:8581332
(GRCh38)
4:8583059
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8581331:G:A,NC_000004.12:8581331:G:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00011/2
(TOMMO)
- HGVS:
6.
rs1489254410 has merged into rs1256222895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 4:8588501
(GRCh38)
4:8590228
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTG,NC_000004.12:8588491:GTGTGTGTGTG:GTGTGTGTGTGTG
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTG=0./0
(
ALFA)
GT=0.00007/2
(TOMMO)
- HGVS:
NC_000004.12:g.8588493TG[4], NC_000004.12:g.8588493TG[6], NC_000004.11:g.8590220TG[4], NC_000004.11:g.8590220TG[6], NM_080819.5:c.*1130TG[4], NM_080819.5:c.*1130TG[6], NM_080819.4:c.*1130TG[4], NM_080819.4:c.*1130TG[6], NR_045511.3:n.1867TG[4], NR_045511.3:n.1867TG[6], NR_045511.2:n.2022TG[4], NR_045511.2:n.2022TG[6]
7.
rs1489124902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:8580449
(GRCh38)
4:8582176
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8580448:G:A
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488984308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:8585862
(GRCh38)
4:8587589
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8585861:C:T
- Gene:
- GPR78 (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:
9.
rs1488983858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:8578590
(GRCh38)
4:8580317
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8578589:A:G
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488848856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:8584429
(GRCh38)
4:8586156
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8584428:G:A
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488784074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:8584142
(GRCh38)
4:8585869
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8584141:G:A
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488768355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:8578644
(GRCh38)
4:8580371
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8578643:GGGG:GGG
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488707844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:8586486
(GRCh38)
4:8588213
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8586485:G:A,NC_000004.12:8586485:G:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488607268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:8586528
(GRCh38)
4:8588255
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8586527:G:C
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1488331080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:8585346
(GRCh38)
4:8587073
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8585345:G:C
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488049242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:8580984
(GRCh38)
4:8582711
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8580983:T:C
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant,initiator_codon_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
17.
rs1487716272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:8588812
(GRCh38)
4:8590539
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8588811:C:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
19.
rs1487636572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:8579555
(GRCh38)
4:8581282
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8579554:A:C
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487510373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:8582681
(GRCh38)
4:8584408
(GRCh37)
- Canonical SPDI:
- NC_000004.12:8582680:G:T
- Gene:
- GPR78 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: