SNP Links for Gene (Select 692205) - SNP

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Links from Gene

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Select item 14911798001.

rs1491179800 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:101273476 (GRCh38)
2:101889938 (GRCh37)
Canonical SPDI:: NC_000002.12:101273474:TCT:T
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.101273476_101273477del, NC_000002.11:g.101889938_101889939del

Select item 14909176512.

rs1490917651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:101274161 (GRCh38)
2:101890623 (GRCh37)
Canonical SPDI:: NC_000002.12:101274160:C:A
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.101274161C>A, NC_000002.11:g.101890623C>A, XM_024452811.2:c.*558G>T, XM_024452811.1:c.*558G>T

Select item 14907291183.

rs1490729118 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:101273820 (GRCh38)
2:101890282 (GRCh37)
Canonical SPDI:: NC_000002.12:101273819:AAAA:AAA
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.101273823del, NC_000002.11:g.101890285del

Select item 14903573714.

rs1490357371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:101272806 (GRCh38)
2:101889268 (GRCh37)
Canonical SPDI:: NC_000002.12:101272805:T:C
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.101272806T>C, NC_000002.11:g.101889268T>C, XM_005263921.5:c.*168A>G, XM_005263921.4:c.*168A>G, XM_005263921.3:c.*168A>G, XM_005263921.1:c.*168A>G

Select item 14877909345.

rs1487790934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:101274738 (GRCh38)
2:101891200 (GRCh37)
Canonical SPDI:: NC_000002.12:101274737:G:A
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.101274738G>A, NC_000002.11:g.101891200G>A, XM_024452811.2:c.1160C>T, XM_024452811.1:c.1160C>T, XP_024308579.1:p.Ala387Val

Select item 14876774806.

rs1487677480 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATG [Show Flanks]
Chromosome:: 2:101274294 (GRCh38)
2:101890757 (GRCh37)
Canonical SPDI:: NC_000002.12:101274294:CATG:CATGCATG
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATGCATG=0./0 (ALFA)
CATG=0.000029/4 (GnomAD)
CATG=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.101274295_101274298dup, NC_000002.11:g.101890757_101890760dup, XM_024452811.2:c.*421_*424dup, XM_024452811.1:c.*421_*424dup

Select item 14875128897.

rs1487512889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:101272710 (GRCh38)
2:101889172 (GRCh37)
Canonical SPDI:: NC_000002.12:101272709:T:C,NC_000002.12:101272709:T:G
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000002.12:g.101272710T>C, NC_000002.12:g.101272710T>G, NC_000002.11:g.101889172T>C, NC_000002.11:g.101889172T>G, XM_005263921.5:c.*264A>G, XM_005263921.5:c.*264A>C, XM_005263921.4:c.*264A>G, XM_005263921.4:c.*264A>C, XM_005263921.3:c.*264A>G, XM_005263921.3:c.*264A>C, XM_005263921.1:c.*264A>G, XM_005263921.1:c.*264A>C

Select item 14861932678.

rs1486193267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:101273185 (GRCh38)
2:101889647 (GRCh37)
Canonical SPDI:: NC_000002.12:101273184:C:G
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.101273185C>G, NC_000002.11:g.101889647C>G, XR_922908.3:n.1429G>C, XR_922908.2:n.1418G>C, XR_922908.1:n.1444G>C

Select item 14854242519.

rs1485424251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:101273352 (GRCh38)
2:101889814 (GRCh37)
Canonical SPDI:: NC_000002.12:101273351:T:C
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.101273352T>C, NC_000002.11:g.101889814T>C

Select item 148437386410.

rs1484373864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:101274686 (GRCh38)
2:101891148 (GRCh37)
Canonical SPDI:: NC_000002.12:101274685:G:T
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,intron_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_000002.12:g.101274686G>T, NC_000002.11:g.101891148G>T, XM_024452811.2:c.*33C>A, XM_024452811.1:c.*33C>A

Select item 148384724711.

rs1483847247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:101274788 (GRCh38)
2:101891250 (GRCh37)
Canonical SPDI:: NC_000002.12:101274787:T:C
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.101274788T>C, NC_000002.11:g.101891250T>C

Select item 148291851912.

rs1482918519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:101273983 (GRCh38)
2:101890445 (GRCh37)
Canonical SPDI:: NC_000002.12:101273982:G:A
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.101273983G>A, NC_000002.11:g.101890445G>A

Select item 148131684813.

rs1481316848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:101274652 (GRCh38)
2:101891114 (GRCh37)
Canonical SPDI:: NC_000002.12:101274651:G:T
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00055/1 (Korea1K)
T=0.00057/9 (TOMMO)
HGVS:: NC_000002.12:g.101274652G>T, NC_000002.11:g.101891114G>T, XM_024452811.2:c.*67C>A, XM_024452811.1:c.*67C>A

Select item 148123954514.

rs1481239545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101272984 (GRCh38)
2:101889446 (GRCh37)
Canonical SPDI:: NC_000002.12:101272983:C:T
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.101272984C>T, NC_000002.11:g.101889446C>T, XM_005263921.5:c.1271G>A, XM_005263921.4:c.1271G>A, XM_005263921.3:c.1271G>A, XM_005263921.2:c.1271G>A, XM_005263921.1:c.1271G>A, XR_001738712.3:n.1384G>A, XR_001738712.2:n.1373G>A, XR_001738712.1:n.1399G>A, NR_003070.1:n.66G>A, XP_005263978.1:p.Gly424Asp

Select item 148116572015.

rs1481165720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:101273512 (GRCh38)
2:101889974 (GRCh37)
Canonical SPDI:: NC_000002.12:101273511:G:T
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00658/78 (ALFA)
T=0.00032/9 (TOMMO)
T=0.00218/4 (Korea1K)
T=0.02808/82 (KOREAN)
HGVS:: NC_000002.12:g.101273512G>T, NC_000002.11:g.101889974G>T

Select item 148047800916.

rs1480478009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:101273385 (GRCh38)
2:101889847 (GRCh37)
Canonical SPDI:: NC_000002.12:101273384:A:G
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.101273385A>G, NC_000002.11:g.101889847A>G

Select item 147965280617.

rs1479652806 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 2:101275031 (GRCh38)
2:101891493 (GRCh37)
Canonical SPDI:: NC_000002.12:101275029:GGTG:G
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.101275031_101275033del, NC_000002.11:g.101891493_101891495del

Select item 147935290818.

rs1479352908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:101273059 (GRCh38)
2:101889521 (GRCh37)
Canonical SPDI:: NC_000002.12:101273058:G:C
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.101273059G>C, NC_000002.11:g.101889521G>C, XM_005263921.5:c.1196C>G, XM_005263921.4:c.1196C>G, XM_005263921.3:c.1196C>G, XM_005263921.2:c.1196C>G, XM_005263921.1:c.1196C>G, XR_001738712.3:n.1309C>G, XR_001738712.2:n.1298C>G, XR_001738712.1:n.1324C>G, XP_005263978.1:p.Ser399Cys

Select item 147818482719.

rs1478184827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:101274916 (GRCh38)
2:101891378 (GRCh37)
Canonical SPDI:: NC_000002.12:101274915:A:G
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_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_000002.12:g.101274916A>G, NC_000002.11:g.101891378A>G

Select item 147716615620.

rs1477166156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:101273756 (GRCh38)
2:101890218 (GRCh37)
Canonical SPDI:: NC_000002.12:101273755:A:C
Gene:: RNF149 (Varview), SNORD89 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_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:: NC_000002.12:g.101273756A>C, NC_000002.11:g.101890218A>C