Links from Gene
Items: 1 to 20 of 898
1.
rs1490831157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:39320182
(GRCh38)
22:39716187
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320181:A:T
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
2.
rs1490780786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:39320853
(GRCh38)
22:39716858
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320852:A:G
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
3.
rs1489966170 has merged into rs34709531 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:39320487
(GRCh38)
22:39716492
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:39320476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.39320487_39320496del, NC_000022.11:g.39320488_39320496del, NC_000022.11:g.39320490_39320496del, NC_000022.11:g.39320491_39320496del, NC_000022.11:g.39320492_39320496del, NC_000022.11:g.39320493_39320496del, NC_000022.11:g.39320494_39320496del, NC_000022.11:g.39320495_39320496del, NC_000022.11:g.39320496del, NC_000022.11:g.39320496dup, NC_000022.11:g.39320495_39320496dup, NC_000022.11:g.39320494_39320496dup, NC_000022.11:g.39320493_39320496dup, NC_000022.11:g.39320492_39320496dup, NC_000022.11:g.39320491_39320496dup, NC_000022.11:g.39320490_39320496dup, NC_000022.11:g.39320489_39320496dup, NC_000022.11:g.39320488_39320496dup, NC_000022.11:g.39320487_39320496dup, NC_000022.11:g.39320486_39320496dup, NC_000022.11:g.39320485_39320496dup, NC_000022.11:g.39320484_39320496dup, NC_000022.11:g.39320483_39320496dup, NC_000022.11:g.39320482_39320496dup, NC_000022.11:g.39320481_39320496dup, NC_000022.11:g.39320480_39320496dup, NC_000022.11:g.39320479_39320496dup, NC_000022.11:g.39320478_39320496dup, NC_000022.11:g.39320477_39320496dup, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.39320496_39320497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716492_39716501del, NC_000022.10:g.39716493_39716501del, NC_000022.10:g.39716495_39716501del, NC_000022.10:g.39716496_39716501del, NC_000022.10:g.39716497_39716501del, NC_000022.10:g.39716498_39716501del, NC_000022.10:g.39716499_39716501del, NC_000022.10:g.39716500_39716501del, NC_000022.10:g.39716501del, NC_000022.10:g.39716501dup, NC_000022.10:g.39716500_39716501dup, NC_000022.10:g.39716499_39716501dup, NC_000022.10:g.39716498_39716501dup, NC_000022.10:g.39716497_39716501dup, NC_000022.10:g.39716496_39716501dup, NC_000022.10:g.39716495_39716501dup, NC_000022.10:g.39716494_39716501dup, NC_000022.10:g.39716493_39716501dup, NC_000022.10:g.39716492_39716501dup, NC_000022.10:g.39716491_39716501dup, NC_000022.10:g.39716490_39716501dup, NC_000022.10:g.39716489_39716501dup, NC_000022.10:g.39716488_39716501dup, NC_000022.10:g.39716487_39716501dup, NC_000022.10:g.39716486_39716501dup, NC_000022.10:g.39716485_39716501dup, NC_000022.10:g.39716484_39716501dup, NC_000022.10:g.39716483_39716501dup, NC_000022.10:g.39716482_39716501dup, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.39716501_39716502insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1489688605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39320453
(GRCh38)
22:39716458
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320452:G:A
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489469474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:39318970
(GRCh38)
22:39714975
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39318969:G:A,NC_000022.11:39318969:G:C
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488142364 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:39320467
(GRCh38)
22:39716472
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320466:G:
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487890740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:39319626
(GRCh38)
22:39715631
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319625:C:A,NC_000022.11:39319625:C:T
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000006/1
(GnomAD_exomes)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1485741638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39319557
(GRCh38)
22:39715562
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319556:G:A
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484351755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:39319365
(GRCh38)
22:39715370
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319364:C:G,NC_000022.11:39319364:C:T
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1484054236 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 22:39318663
(GRCh38)
22:39714669
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39318663:AA:AAA
- Gene:
- RPL3 (Varview), SNORD43 (Varview), SNORD139 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1483746666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:39319442
(GRCh38)
22:39715447
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319441:C:T
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1483338235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:39319034
(GRCh38)
22:39715039
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319033:A:C
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_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:
13.
rs1483093462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 22:39318898
(GRCh38)
22:39714903
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39318897:T:C,NC_000022.11:39318897:T:G
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1482976382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:39320695
(GRCh38)
22:39716700
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320694:G:C
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1482700396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:39319094
(GRCh38)
22:39715099
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319093:C:G
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482694535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:39319454
(GRCh38)
22:39715459
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39319453:C:T
- Gene:
- RPL3 (Varview), SNORD43 (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)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1482460337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 22:39318972
(GRCh38)
22:39714977
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39318971:A:C,NC_000022.11:39318971:A:G
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1481266605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:39320904
(GRCh38)
22:39716909
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320903:T:G
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1480841922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39320202
(GRCh38)
22:39716207
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320201:G:A
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1477775186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:39320511
(GRCh38)
22:39716516
(GRCh37)
- Canonical SPDI:
- NC_000022.11:39320510:G:A
- Gene:
- RPL3 (Varview), SNORD43 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/2
(GnomAD)
- HGVS: