SNP Links for Gene (Select 29997) - SNP

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Select item 14914340341.

rs1491434034 has merged into rs750831883 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:47747789 (GRCh38)
19:48251046 (GRCh37)
Canonical SPDI:: NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47747779:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.47747789_47747804del, NC_000019.10:g.47747790_47747804del, NC_000019.10:g.47747791_47747804del, NC_000019.10:g.47747792_47747804del, NC_000019.10:g.47747793_47747804del, NC_000019.10:g.47747794_47747804del, NC_000019.10:g.47747795_47747804del, NC_000019.10:g.47747796_47747804del, NC_000019.10:g.47747797_47747804del, NC_000019.10:g.47747798_47747804del, NC_000019.10:g.47747799_47747804del, NC_000019.10:g.47747800_47747804del, NC_000019.10:g.47747801_47747804del, NC_000019.10:g.47747802_47747804del, NC_000019.10:g.47747803_47747804del, NC_000019.10:g.47747804del, NC_000019.10:g.47747804dup, NC_000019.10:g.47747803_47747804dup, NC_000019.10:g.47747802_47747804dup, NC_000019.10:g.47747799_47747804dup, NC_000019.9:g.48251046_48251061del, NC_000019.9:g.48251047_48251061del, NC_000019.9:g.48251048_48251061del, NC_000019.9:g.48251049_48251061del, NC_000019.9:g.48251050_48251061del, NC_000019.9:g.48251051_48251061del, NC_000019.9:g.48251052_48251061del, NC_000019.9:g.48251053_48251061del, NC_000019.9:g.48251054_48251061del, NC_000019.9:g.48251055_48251061del, NC_000019.9:g.48251056_48251061del, NC_000019.9:g.48251057_48251061del, NC_000019.9:g.48251058_48251061del, NC_000019.9:g.48251059_48251061del, NC_000019.9:g.48251060_48251061del, NC_000019.9:g.48251061del, NC_000019.9:g.48251061dup, NC_000019.9:g.48251060_48251061dup, NC_000019.9:g.48251059_48251061dup, NC_000019.9:g.48251056_48251061dup

Select item 14913099522.

rs1491309952 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:47747780 (GRCh38)
19:48251038 (GRCh37)
Canonical SPDI:: NC_000019.10:47747780::C
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00048/4 (GnomAD)
HGVS:: NC_000019.10:g.47747780_47747781insC, NC_000019.9:g.48251037_48251038insC

Select item 14911486893.

rs1491148689 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:47753888 (GRCh38)
19:48257146 (GRCh37)
Canonical SPDI:: NC_000019.10:47753888:T:TT
Gene:: NOP53 (Varview), SNORD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47753889dup, NC_000019.9:g.48257146dup

Select item 14911019004.

rs1491101900 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:47753888 (GRCh38)
19:48257145 (GRCh37)
Canonical SPDI:: NC_000019.10:47753887:AT:
Gene:: NOP53 (Varview), SNORD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47753888_47753889del, NC_000019.9:g.48257145_48257146del

Select item 14908397405.

rs1490839740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47746061 (GRCh38)
19:48249318 (GRCh37)
Canonical SPDI:: NC_000019.10:47746060:G:A
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.47746061G>A, NC_000019.9:g.48249318G>A

Select item 14908146596.

rs1490814659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:47746556 (GRCh38)
19:48249813 (GRCh37)
Canonical SPDI:: NC_000019.10:47746555:G:T
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47746556G>T, NC_000019.9:g.48249813G>T

Select item 14906346187.

rs1490634618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:47751944 (GRCh38)
19:48255201 (GRCh37)
Canonical SPDI:: NC_000019.10:47751943:A:C,NC_000019.10:47751943:A:G
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.47751944A>C, NC_000019.10:g.47751944A>G, NC_000019.9:g.48255201A>C, NC_000019.9:g.48255201A>G

Select item 14905676848.

rs1490567684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47752036 (GRCh38)
19:48255293 (GRCh37)
Canonical SPDI:: NC_000019.10:47752035:G:A
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.47752036G>A, NC_000019.9:g.48255293G>A

Select item 14903118329.

rs1490311832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47756805 (GRCh38)
19:48260062 (GRCh37)
Canonical SPDI:: NC_000019.10:47756804:C:T
Gene:: NOP53 (Varview), NOP53-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.47756805C>T, NC_000019.9:g.48260062C>T

Select item 149003452610.

rs1490034526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47750763 (GRCh38)
19:48254020 (GRCh37)
Canonical SPDI:: NC_000019.10:47750762:T:G
Gene:: NOP53 (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:: NC_000019.10:g.47750763T>G, NC_000019.9:g.48254020T>G

Select item 148980832111.

rs1489808321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47744868 (GRCh38)
19:48248125 (GRCh37)
Canonical SPDI:: NC_000019.10:47744867:T:C
Gene:: NOP53 (Varview)
Functional Consequence:: 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:: NC_000019.10:g.47744868T>C, NC_000019.9:g.48248125T>C

Select item 148946100012.

rs1489461000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47756328 (GRCh38)
19:48259585 (GRCh37)
Canonical SPDI:: NC_000019.10:47756327:A:G
Gene:: NOP53 (Varview), SNORD23 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47756328A>G, NC_000019.9:g.48259585A>G

Select item 148939183213.

rs1489391832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:47744879 (GRCh38)
19:48248136 (GRCh37)
Canonical SPDI:: NC_000019.10:47744878:G:A,NC_000019.10:47744878:G:T
Gene:: NOP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.47744879G>A, NC_000019.10:g.47744879G>T, NC_000019.9:g.48248136G>A, NC_000019.9:g.48248136G>T

Select item 148930672314.

rs1489306723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47745498 (GRCh38)
19:48248755 (GRCh37)
Canonical SPDI:: NC_000019.10:47745497:G:A
Gene:: NOP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.47745498G>A, NC_000019.9:g.48248755G>A

Select item 148857425915.

rs1488574259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47745563 (GRCh38)
19:48248820 (GRCh37)
Canonical SPDI:: NC_000019.10:47745562:G:A
Gene:: NOP53 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.47745563G>A, NC_000019.9:g.48248820G>A, NM_015710.5:c.4G>A, NM_015710.4:c.4G>A, NP_056525.2:p.Ala2Thr

Select item 148856924816.

rs1488569248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47747347 (GRCh38)
19:48250604 (GRCh37)
Canonical SPDI:: NC_000019.10:47747346:C:T
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47747347C>T, NC_000019.9:g.48250604C>T

Select item 148856854617.

rs1488568546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47751650 (GRCh38)
19:48254907 (GRCh37)
Canonical SPDI:: NC_000019.10:47751649:T:C
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47751650T>C, NC_000019.9:g.48254907T>C

Select item 148855123618.

rs1488551236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47754874 (GRCh38)
19:48258131 (GRCh37)
Canonical SPDI:: NC_000019.10:47754873:A:G
Gene:: NOP53 (Varview), SNORD23 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47754874A>G, NC_000019.9:g.48258131A>G, NM_015710.5:c.1036A>G, NM_015710.4:c.1036A>G, NP_056525.2:p.Lys346Glu

Select item 148842908619.

rs1488429086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47746222 (GRCh38)
19:48249479 (GRCh37)
Canonical SPDI:: NC_000019.10:47746221:C:G
Gene:: NOP53 (Varview)
Functional Consequence:: 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:: NC_000019.10:g.47746222C>G, NC_000019.9:g.48249479C>G

Select item 148840881320.

rs1488408813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47751486 (GRCh38)
19:48254743 (GRCh37)
Canonical SPDI:: NC_000019.10:47751485:A:G
Gene:: NOP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47751486A>G, NC_000019.9:g.48254743A>G

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