SNP Links for Gene (Select 100113381) - SNP

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Items: 1 to 20 of 637

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Select item 14893048191.

rs1489304819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52690721 (GRCh38)
3:52724737 (GRCh37)
Canonical SPDI:: NC_000003.12:52690720:G:T
Gene:: GNL3 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52690721G>T, NC_000003.11:g.52724737G>T, NG_032108.1:g.130C>A, NG_027871.1:g.9802G>T

Select item 14891285712.

rs1489128571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:52690745 (GRCh38)
3:52724761 (GRCh37)
Canonical SPDI:: NC_000003.12:52690744:T:A
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52690745T>A, NC_000003.11:g.52724761T>A, NG_032108.1:g.106A>T, NG_027871.1:g.9826T>A, NR_003687.1:n.8T>A

Select item 14888569253.

rs1488856925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52689191 (GRCh38)
3:52723207 (GRCh37)
Canonical SPDI:: NC_000003.12:52689190:A:G
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52689191A>G, NC_000003.11:g.52723207A>G, NG_032108.1:g.1660T>C, NG_027871.1:g.8272A>G, NM_014366.5:c.526A>G, NM_014366.4:c.526A>G, NM_206825.2:c.490A>G, NM_206825.1:c.490A>G, NM_206826.1:c.490A>G, NP_055181.3:p.Ile176Val, NP_996561.1:p.Ile164Val, NP_996562.1:p.Ile164Val

Select item 14885482354.

rs1488548235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:52688921 (GRCh38)
3:52722937 (GRCh37)
Canonical SPDI:: NC_000003.12:52688920:C:G
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52688921C>G, NC_000003.11:g.52722937C>G, NG_032108.1:g.1930G>C, NG_027871.1:g.8002C>G, NR_132757.1:n.35C>G

Select item 14884334815.

rs1488433481 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:52691257 (GRCh38)
3:52725273 (GRCh37)
Canonical SPDI:: NC_000003.12:52691256:TT:
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.52691257_52691258del, NC_000003.11:g.52725273_52725274del, NG_027871.1:g.10338_10339del

Select item 14878370796.

rs1487837079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52688871 (GRCh38)
3:52722887 (GRCh37)
Canonical SPDI:: NC_000003.12:52688870:A:G
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: intron_variant,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:: NC_000003.12:g.52688871A>G, NC_000003.11:g.52722887A>G, NG_032108.1:g.1980T>C, NG_027871.1:g.7952A>G

Select item 14875309147.

rs1487530914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:52691050 (GRCh38)
3:52725066 (GRCh37)
Canonical SPDI:: NC_000003.12:52691049:G:A
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.52691050G>A, NC_000003.11:g.52725066G>A, NG_027871.1:g.10131G>A, NM_014366.5:c.760G>A, NM_014366.4:c.760G>A, NM_206825.2:c.724G>A, NM_206825.1:c.724G>A, NM_206826.1:c.724G>A, NP_055181.3:p.Ala254Thr, NP_996561.1:p.Ala242Thr, NP_996562.1:p.Ala242Thr

Select item 14860949058.

rs1486094905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:52690845 (GRCh38)
3:52724861 (GRCh37)
Canonical SPDI:: NC_000003.12:52690844:G:A,NC_000003.12:52690844:G:T
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.52690845G>A, NC_000003.12:g.52690845G>T, NC_000003.11:g.52724861G>A, NC_000003.11:g.52724861G>T, NG_032108.1:g.6C>T, NG_032108.1:g.6C>A, NG_027871.1:g.9926G>A, NG_027871.1:g.9926G>T

Select item 14860428609.

rs1486042860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52689710 (GRCh38)
3:52723726 (GRCh37)
Canonical SPDI:: NC_000003.12:52689709:T:C
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52689710T>C, NC_000003.11:g.52723726T>C, NG_032108.1:g.1141A>G, NG_027871.1:g.8791T>C

Select item 148573429710.

rs1485734297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52689263 (GRCh38)
3:52723279 (GRCh37)
Canonical SPDI:: NC_000003.12:52689262:A:G
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52689263A>G, NC_000003.11:g.52723279A>G, NG_032108.1:g.1588T>C, NG_027871.1:g.8344A>G, NR_003047.1:n.24A>G

Select item 148361830511.

rs1483618305 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:52691257 (GRCh38)
3:52725273 (GRCh37)
Canonical SPDI:: NC_000003.12:52691256:TT:T
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52691258del, NC_000003.11:g.52725274del, NG_027871.1:g.10339del

Select item 147833757012.

rs1478337570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52689114 (GRCh38)
3:52723130 (GRCh37)
Canonical SPDI:: NC_000003.12:52689113:C:T
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52689114C>T, NC_000003.11:g.52723130C>T, NG_032108.1:g.1737G>A, NG_027871.1:g.8195C>T, NM_014366.5:c.449C>T, NM_014366.4:c.449C>T, NM_206825.2:c.413C>T, NM_206825.1:c.413C>T, NM_206826.1:c.413C>T, NP_055181.3:p.Ala150Val, NP_996561.1:p.Ala138Val, NP_996562.1:p.Ala138Val

Select item 147814405713.

rs1478144057 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:52691329 (GRCh38)
3:52725345 (GRCh37)
Canonical SPDI:: NC_000003.12:52691328:TT:T
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52691330del, NC_000003.11:g.52725346del, NG_027871.1:g.10411del

Select item 147711645014.

rs1477116450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52690639 (GRCh38)
3:52724655 (GRCh37)
Canonical SPDI:: NC_000003.12:52690638:A:G
Gene:: GNL3 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52690639A>G, NC_000003.11:g.52724655A>G, NG_032108.1:g.212T>C, NG_027871.1:g.9720A>G, NM_014366.5:c.589A>G, NM_014366.4:c.589A>G, NM_206825.2:c.553A>G, NM_206825.1:c.553A>G, NM_206826.1:c.553A>G, NP_055181.3:p.Lys197Glu, NP_996561.1:p.Lys185Glu, NP_996562.1:p.Lys185Glu

Select item 147649516615.

rs1476495166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52690143 (GRCh38)
3:52724159 (GRCh37)
Canonical SPDI:: NC_000003.12:52690142:C:T
Gene:: GNL3 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000003.12:g.52690143C>T, NC_000003.11:g.52724159C>T, NG_032108.1:g.708G>A, NG_027871.1:g.9224C>T

Select item 147636717116.

rs1476367171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:52689409 (GRCh38)
3:52723425 (GRCh37)
Canonical SPDI:: NC_000003.12:52689408:A:G
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview), SNORD19C (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_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)
G=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.52689409A>G, NC_000003.11:g.52723425A>G, NG_032108.1:g.1442T>C, NG_027871.1:g.8490A>G

Select item 147408611117.

rs1474086111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52690608 (GRCh38)
3:52724624 (GRCh37)
Canonical SPDI:: NC_000003.12:52690607:G:T
Gene:: GNL3 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52690608G>T, NC_000003.11:g.52724624G>T, NG_032108.1:g.243C>A, NG_027871.1:g.9689G>T, NM_014366.5:c.558G>T, NM_014366.4:c.558G>T, NM_206825.2:c.522G>T, NM_206825.1:c.522G>T, NM_206826.1:c.522G>T, NP_055181.3:p.Glu186Asp, NP_996561.1:p.Glu174Asp, NP_996562.1:p.Glu174Asp

Select item 147407953618.

rs1474079536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:52688872 (GRCh38)
3:52722888 (GRCh37)
Canonical SPDI:: NC_000003.12:52688871:T:A,NC_000003.12:52688871:T:C
Gene:: GNL3 (Varview), SNORD19 (Varview), SNORD19B (Varview), SNORD136 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.52688872T>A, NC_000003.12:g.52688872T>C, NC_000003.11:g.52722888T>A, NC_000003.11:g.52722888T>C, NG_032108.1:g.1979A>T, NG_032108.1:g.1979A>G, NG_027871.1:g.7953T>A, NG_027871.1:g.7953T>C

Select item 147224348119.

rs1472243481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:52689858 (GRCh38)
3:52723874 (GRCh37)
Canonical SPDI:: NC_000003.12:52689857:A:C
Gene:: GNL3 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52689858A>C, NC_000003.11:g.52723874A>C, NG_032108.1:g.993T>G, NG_027871.1:g.8939A>C

Select item 146914069620.

rs1469140696 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:52691241 (GRCh38)
3:52725258 (GRCh37)
Canonical SPDI:: NC_000003.12:52691241:TTT:TTTT
Gene:: GNL3 (Varview), SNORD69 (Varview), SNORD19B (Varview), SNORD19C (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.52691244dup, NC_000003.11:g.52725260dup, NG_027871.1:g.10325dup

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