Links from Gene
Items: 1 to 20 of 1000
1.
rs1491272149 has merged into rs869201918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG
[Show Flanks]
- Chromosome:
- 17:75262012
(GRCh38)
17:73258093
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262006:GGGGGGG:GGGGG,NC_000017.11:75262006:GGGGGGG:GGGGGG,NC_000017.11:75262006:GGGGGGG:GGGGGGGG
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0.000071/1
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000026/6
(GnomAD_exomes)
-=0.000057/2
(GnomAD)
-=0.00007/2
(ExAC)
-=0.000319/5
(TOMMO)
- HGVS:
2.
rs1491198105 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 17:75262004
(GRCh38)
17:73258085
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262003:GG:
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.002995/15
(1000Genomes)
-=0.004262/244
(GnomAD_exomes)
-=0.004753/1258
(TOPMED)
-=0.007009/136
(ExAC)
-=0.018228/664
(GnomAD)
- HGVS:
3.
rs1490821550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 17:75260442
(GRCh38)
17:73256523
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75260441:C:A,NC_000017.11:75260441:C:G,NC_000017.11:75260441:C:T
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489776176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75264499
(GRCh38)
17:73260580
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75264498:C:T
- Gene:
- MRPS7 (Varview)
- Functional Consequence:
- 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:
5.
rs1489692784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75263454
(GRCh38)
17:73259535
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75263453:T:C
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1489422109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:75264953
(GRCh38)
17:73261034
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75264952:C:G
- Gene:
- MRPS7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489389433 has merged into rs77901195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:75264183
(GRCh38)
17:73260264
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75264172:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.00168/1
(NorthernSweden)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000017.11:g.75264183_75264191del, NC_000017.11:g.75264185_75264191del, NC_000017.11:g.75264186_75264191del, NC_000017.11:g.75264187_75264191del, NC_000017.11:g.75264188_75264191del, NC_000017.11:g.75264189_75264191del, NC_000017.11:g.75264190_75264191del, NC_000017.11:g.75264191del, NC_000017.11:g.75264191dup, NC_000017.11:g.75264190_75264191dup, NC_000017.10:g.73260264_73260272del, NC_000017.10:g.73260266_73260272del, NC_000017.10:g.73260267_73260272del, NC_000017.10:g.73260268_73260272del, NC_000017.10:g.73260269_73260272del, NC_000017.10:g.73260270_73260272del, NC_000017.10:g.73260271_73260272del, NC_000017.10:g.73260272del, NC_000017.10:g.73260272dup, NC_000017.10:g.73260271_73260272dup
8.
rs1489196527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75261174
(GRCh38)
17:73257255
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75261173:G:A
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000162/3
(
ALFA)
A=0.000038/10
(TOPMED)
A=0.000064/9
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
9.
rs1488767649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:75265170
(GRCh38)
17:73261251
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75265169:C:G
- Gene:
- MRPS7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
10.
rs1486753458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:75265371
(GRCh38)
17:73261452
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75265370:T:A
- Gene:
- MRPS7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486151118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:75264223
(GRCh38)
17:73260304
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75264222:G:C
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485969501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75262470
(GRCh38)
17:73258551
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262469:C:T
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485321417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:75266221
(GRCh38)
17:73262302
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75266220:G:C
- Gene:
- MRPS7 (Varview), MIF4GD (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1484780941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 17:75266496
(GRCh38)
17:73262577
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75266495:T:A,NC_000017.11:75266495:T:C
- Gene:
- MRPS7 (Varview), MIF4GD (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.75266496T>A, NC_000017.11:g.75266496T>C, NC_000017.10:g.73262577T>A, NC_000017.10:g.73262577T>C, NM_020679.4:c.*244A>T, NM_020679.4:c.*244A>G, NM_020679.3:c.*244A>T, NM_020679.3:c.*244A>G, XM_011525052.3:c.*244A>T, XM_011525052.3:c.*244A>G, XM_011525052.2:c.*244A>T, XM_011525052.2:c.*244A>G, XM_011525052.1:c.*244A>T, XM_011525052.1:c.*244A>G, XM_011525054.3:c.*244A>T, XM_011525054.3:c.*244A>G, XM_011525054.2:c.*244A>T, XM_011525054.2:c.*244A>G, XM_011525054.1:c.*244A>T, XM_011525054.1:c.*244A>G, XM_011525055.3:c.*244A>T, XM_011525055.3:c.*244A>G, XM_011525055.2:c.*244A>T, XM_011525055.2:c.*244A>G, XM_011525055.1:c.*244A>T, XM_011525055.1:c.*244A>G, NM_001242498.2:c.*244A>T, NM_001242498.2:c.*244A>G, NM_001242498.1:c.*244A>T, NM_001242498.1:c.*244A>G, NM_001363806.2:c.*244A>T, NM_001363806.2:c.*244A>G, NM_001363806.1:c.*244A>T, NM_001363806.1:c.*244A>G, XM_047436447.1:c.*244A>T, XM_047436447.1:c.*244A>G, XM_047436445.1:c.*244A>T, XM_047436445.1:c.*244A>G, XM_047436450.1:c.*244A>T, XM_047436450.1:c.*244A>G, XM_047436453.1:c.*244A>T, XM_047436453.1:c.*244A>G, NM_001411093.1:c.*244A>T, NM_001411093.1:c.*244A>G, XM_047436446.1:c.*244A>T, XM_047436446.1:c.*244A>G, XM_047436441.1:c.*244A>T, XM_047436441.1:c.*244A>G, NM_001365753.1:c.*244A>T, NM_001365753.1:c.*244A>G, XM_047436442.1:c.*244A>T, XM_047436442.1:c.*244A>G, XM_047436444.1:c.*244A>T, XM_047436444.1:c.*244A>G, NM_001365752.1:c.*244A>T, NM_001365752.1:c.*244A>G, XM_047436451.1:c.*244A>T, XM_047436451.1:c.*244A>G, XM_047436448.1:c.*244A>T, XM_047436448.1:c.*244A>G, NM_001365751.1:c.*244A>T, NM_001365751.1:c.*244A>G, XM_047436456.1:c.*244A>T, XM_047436456.1:c.*244A>G, XM_047436443.1:c.*244A>T, XM_047436443.1:c.*244A>G, XM_047436452.1:c.*244A>T, XM_047436452.1:c.*244A>G, NM_001365754.1:c.*244A>T, NM_001365754.1:c.*244A>G, NM_001365755.1:c.*244A>T, NM_001365755.1:c.*244A>G, XM_047436458.1:c.*244A>T, XM_047436458.1:c.*244A>G, XM_047436454.1:c.*244A>T, XM_047436454.1:c.*244A>G, NM_001242500.1:c.*244A>T, NM_001242500.1:c.*244A>G, NM_001370592.1:c.*244A>T, NM_001370592.1:c.*244A>G, XM_047436449.1:c.*244A>T, XM_047436449.1:c.*244A>G, XM_047436455.1:c.*244A>T, XM_047436455.1:c.*244A>G, XM_047436457.1:c.*244A>T, XM_047436457.1:c.*244A>G, NM_001242501.1:c.*244A>T, NM_001242501.1:c.*244A>G
15.
rs1484749763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:75265447
(GRCh38)
17:73261528
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75265446:T:G
- Gene:
- MRPS7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484684294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75262594
(GRCh38)
17:73258675
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262593:G:A
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1484161660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:75262500
(GRCh38)
17:73258581
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262499:A:C
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1484001405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75262785
(GRCh38)
17:73258866
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75262784:G:A
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483373644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75261135
(GRCh38)
17:73257216
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75261134:G:A
- Gene:
- GGA3 (Varview), MRPS7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: