SNP Links for Gene (Select 6066) - SNP

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Select item 14915279021.

rs1491527902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGG,TGGG [Show Flanks]
Chromosome:: 17:43233299 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233299:GGG:GGGAGGG,NC_000017.11:43233299:GGG:GGGTGGG
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGTGGG=0./0 (ALFA)
GGGA=0.00079/4 (GnomAD)
HGVS:: NC_000017.11:g.43233302_43233303insAGGG, NC_000017.11:g.43233302_43233303insTGGG

Select item 14911070932.

rs1491107093 has merged into rs1352261427 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGGG [Show Flanks]
Chromosome:: 17:43233307 (GRCh38)
17:7 (GRCh37)
Canonical SPDI:: NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGG,NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGGG,NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:43233298:GGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: RNU2-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.43233307_43233308del, NC_000017.11:g.43233308del, NC_000017.11:g.43233308dup, NC_000017.11:g.43233307_43233308dup, NC_000017.11:g.43233306_43233308dup, NC_000017.11:g.43233304_43233308dup

Select item 14892646573.

rs1489264657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233434 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233433:G:A,NC_000017.11:43233433:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00041/23 (GnomAD)
HGVS:: NC_000017.11:g.43233434G>A, NC_000017.11:g.43233434G>C

Select item 14850882954.

rs1485088295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43233927 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233926:T:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00051/6 (ALFA)
HGVS:: NC_000017.11:g.43233927T>C, NR_002716.3:n.51A>G, NR_002716.2:n.51A>G, NR_002716.1:n.49A>G

Select item 14842545485.

rs1484254548 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:43233497 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233496:GGG:GG
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.00051/6 (ALFA)
-=0.00086/60 (GnomAD)
-=0.00718/46 (1000Genomes)
-=0.01287/19 (Korea1K)
-=0.01728/226 (TOMMO)
HGVS:: NC_000017.11:g.43233499del

Select item 14834558266.

rs1483455826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43233665 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233664:G:A
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00194/23 (ALFA)
HGVS:: NC_000017.11:g.43233665G>A

Select item 14828954847.

rs1482895484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233398 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233397:G:A,NC_000017.11:43233397:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00329/31 (TOMMO)
HGVS:: NC_000017.11:g.43233398G>A, NC_000017.11:g.43233398G>C

Select item 14818208648.

rs1481820864 [Homo sapiens]

Variant type:: DEL
Alleles:: CAGAGAGACG>- [Show Flanks]
Chromosome:: 17:43233404 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233403:CAGAGAGACG:
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00085/8 (TOMMO)
-=0.00508/83 (GnomAD)
HGVS:: NC_000017.11:g.43233404_43233413del

Select item 14771715209.

rs1477171520 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:43233854 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233854::A
Gene:: RNU2-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00135/16 (ALFA)
A=0.00711/31 (GnomAD)
A=0.00872/100 (TOMMO)
HGVS:: NC_000017.11:g.43233854_43233855insA, NR_002716.3:n.123_124insT, NR_002716.2:n.123_124insT, NR_002716.1:n.121_122insT

Select item 147401679910.

rs1474016799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43233734 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233733:G:A
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000017.11:g.43233734G>A

Select item 147309139711.

rs1473091397 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:43233914 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233914::A
Gene:: RNU2-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00051/6 (ALFA)
A=0.00099/9 (TOMMO)
HGVS:: NC_000017.11:g.43233914_43233915insA, NR_002716.3:n.63_64insT, NR_002716.2:n.63_64insT, NR_002716.1:n.61_62insT

Select item 147293887112.

rs1472938871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:43233748 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233747:T:A,NC_000017.11:43233747:T:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.2016/1149 (TOMMO)
HGVS:: NC_000017.11:g.43233748T>A, NC_000017.11:g.43233748T>C

Select item 147228944013.

rs1472289440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233303 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233302:G:A,NC_000017.11:43233302:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.0574/161 (TOMMO)
HGVS:: NC_000017.11:g.43233303G>A, NC_000017.11:g.43233303G>C

Select item 147130714214.

rs1471307142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233426 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233425:G:A,NC_000017.11:43233425:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00006/4 (GnomAD)
HGVS:: NC_000017.11:g.43233426G>A, NC_000017.11:g.43233426G>C

Select item 146974595815.

rs1469745958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233799 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233798:G:A,NC_000017.11:43233798:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
A=0.00019/1 (GnomAD)
HGVS:: NC_000017.11:g.43233799G>A, NC_000017.11:g.43233799G>C, NR_002716.3:n.179C>T, NR_002716.3:n.179C>G, NR_002716.2:n.179C>T, NR_002716.2:n.179C>G, NR_002716.1:n.177C>T, NR_002716.1:n.177C>G

Select item 146829156516.

rs1468291565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43233442 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233441:G:A,NC_000017.11:43233441:G:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00063/9 (TOMMO)
HGVS:: NC_000017.11:g.43233442G>A, NC_000017.11:g.43233442G>C

Select item 146613250917.

rs1466132509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43233864 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233863:T:C
Gene:: RNU2-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00027/3 (TOMMO)
HGVS:: NC_000017.11:g.43233864T>C, NR_002716.3:n.114A>G, NR_002716.2:n.114A>G, NR_002716.1:n.112A>G

Select item 146386917718.

rs1463869177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:43233482 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233482:G:GG
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00008/1 (ALFA)
G=0.00006/4 (GnomAD)
HGVS:: NC_000017.11:g.43233483dup

Select item 146165227219.

rs1461652272 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:43233372 (GRCh38)
17:0 (GRCh37)
Canonical SPDI:: NC_000017.11:43233370:ACA:A
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00189/12 (TOMMO)
-=0.18609/1236 (GnomAD)
HGVS:: NC_000017.11:g.43233372_43233373del

Select item 145862838320.

rs1458628383 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:43233413 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:43233412:GG:
Gene:: RNU2-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00085/4 (TOMMO)
-=0.00174/8 (GnomAD)
HGVS:: NC_000017.11:g.43233413_43233414del

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