Links from Gene
Items: 1 to 20 of 790
1.
rs1490870175 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TAGTA>-
[Show Flanks]
- Chromosome:
- 13:27255753
(GRCh38)
13:27829890
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27255752:TAGTA:
- Gene:
- RPL21 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489888698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:27254958
(GRCh38)
13:27829095
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254957:T:G
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489556127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:27254854
(GRCh38)
13:27828991
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254853:G:A
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1487584759 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAGCGTCTACC>-
[Show Flanks]
- Chromosome:
- 13:27253950
(GRCh38)
13:27828087
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253948:CTAGCGTCTACC:C
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
6.
rs1486026851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:27253511
(GRCh38)
13:27827648
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253510:A:G
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485917882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:27253657
(GRCh38)
13:27827794
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253656:G:A,NC_000013.11:27253656:G:T
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000053/14
(TOPMED)
- HGVS:
8.
rs1483249651 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTA>-
[Show Flanks]
- Chromosome:
- 13:27254020
(GRCh38)
13:27828157
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254017:TAAGTA:TA
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1483139624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:27253833
(GRCh38)
13:27827970
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253832:T:C
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000028/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1483110947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:27254601
(GRCh38)
13:27828738
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254600:T:A
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1480248313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:27253739
(GRCh38)
13:27827876
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253738:T:G
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1479966807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:27254695
(GRCh38)
13:27828832
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254694:G:C
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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.
rs1479544504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:27255056
(GRCh38)
13:27829193
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27255055:G:C
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_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:
15.
rs1475946419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:27254002
(GRCh38)
13:27828139
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253998:TATAT:TAT
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0.000071/1
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000156/1
(1000Genomes)
-=0.001092/2
(Korea1K)
- HGVS:
16.
rs1473651573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:27253524
(GRCh38)
13:27827661
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27253523:C:G,NC_000013.11:27253523:C:T
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1472346442 has merged into rs555263610 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTAGAATGGATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTAGAATGGATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:27254402
(GRCh38)
13:27828539
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTAGAATGGATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTAGAATGGATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:27254392:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.1158/580
(1000Genomes)
- HGVS:
NC_000013.11:g.27254402_27254411del, NC_000013.11:g.27254403_27254411del, NC_000013.11:g.27254404_27254411del, NC_000013.11:g.27254405_27254411del, NC_000013.11:g.27254406_27254411del, NC_000013.11:g.27254407_27254411del, NC_000013.11:g.27254408_27254411del, NC_000013.11:g.27254409_27254411del, NC_000013.11:g.27254410_27254411del, NC_000013.11:g.27254411del, NC_000013.11:g.27254411dup, NC_000013.11:g.27254410_27254411dup, NC_000013.11:g.27254409_27254411dup, NC_000013.11:g.27254408_27254411dup, NC_000013.11:g.27254393_27254411T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.27254393_27254411T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.27254407_27254411dup, NC_000013.11:g.27254406_27254411dup, NC_000013.11:g.27254405_27254411dup, NC_000013.11:g.27254404_27254411dup, NC_000013.11:g.27254403_27254411dup, NC_000013.11:g.27254402_27254411dup, NC_000013.11:g.27254401_27254411dup, NC_000013.11:g.27254400_27254411dup, NC_000013.11:g.27254399_27254411dup, NC_000013.11:g.27254398_27254411dup, NC_000013.11:g.27254397_27254411dup, NC_000013.11:g.27254396_27254411dup, NC_000013.11:g.27254395_27254411dup, NC_000013.11:g.27254394_27254411dup, NC_000013.11:g.27254393_27254411dup, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.27254411_27254412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828539_27828548del, NC_000013.10:g.27828540_27828548del, NC_000013.10:g.27828541_27828548del, NC_000013.10:g.27828542_27828548del, NC_000013.10:g.27828543_27828548del, NC_000013.10:g.27828544_27828548del, NC_000013.10:g.27828545_27828548del, NC_000013.10:g.27828546_27828548del, NC_000013.10:g.27828547_27828548del, NC_000013.10:g.27828548del, NC_000013.10:g.27828548dup, NC_000013.10:g.27828547_27828548dup, NC_000013.10:g.27828546_27828548dup, NC_000013.10:g.27828545_27828548dup, NC_000013.10:g.27828530_27828548T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.27828530_27828548T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.27828544_27828548dup, NC_000013.10:g.27828543_27828548dup, NC_000013.10:g.27828542_27828548dup, NC_000013.10:g.27828541_27828548dup, NC_000013.10:g.27828540_27828548dup, NC_000013.10:g.27828539_27828548dup, NC_000013.10:g.27828538_27828548dup, NC_000013.10:g.27828537_27828548dup, NC_000013.10:g.27828536_27828548dup, NC_000013.10:g.27828535_27828548dup, NC_000013.10:g.27828534_27828548dup, NC_000013.10:g.27828533_27828548dup, NC_000013.10:g.27828532_27828548dup, NC_000013.10:g.27828531_27828548dup, NC_000013.10:g.27828530_27828548dup, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.27828548_27828549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7848_7857del, NG_046927.1:g.7849_7857del, NG_046927.1:g.7850_7857del, NG_046927.1:g.7851_7857del, NG_046927.1:g.7852_7857del, NG_046927.1:g.7853_7857del, NG_046927.1:g.7854_7857del, NG_046927.1:g.7855_7857del, NG_046927.1:g.7856_7857del, NG_046927.1:g.7857del, NG_046927.1:g.7857dup, NG_046927.1:g.7856_7857dup, NG_046927.1:g.7855_7857dup, NG_046927.1:g.7854_7857dup, NG_046927.1:g.7839_7857T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046927.1:g.7839_7857T[23]AGAATGGATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_046927.1:g.7853_7857dup, NG_046927.1:g.7852_7857dup, NG_046927.1:g.7851_7857dup, NG_046927.1:g.7850_7857dup, NG_046927.1:g.7849_7857dup, NG_046927.1:g.7848_7857dup, NG_046927.1:g.7847_7857dup, NG_046927.1:g.7846_7857dup, NG_046927.1:g.7845_7857dup, NG_046927.1:g.7844_7857dup, NG_046927.1:g.7843_7857dup, NG_046927.1:g.7842_7857dup, NG_046927.1:g.7841_7857dup, NG_046927.1:g.7840_7857dup, NG_046927.1:g.7839_7857dup, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046927.1:g.7857_7858insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1469034159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 13:27255576
(GRCh38)
13:27829713
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27255575:G:A,NC_000013.11:27255575:G:C
- Gene:
- RPL21 (Varview), SNORD102 (Varview), SNORA27 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1468327399 has merged into rs1175913536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 13:27255913
(GRCh38)
13:27830050
(GRCh37)
- Canonical SPDI:
- NC_000013.11:27255910:TTTT:TT,NC_000013.11:27255910:TTTT:TTT
- Gene:
- RPL21 (Varview), SNORA27 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: