SNP Links for Gene (Select 104472715) - SNP

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Select item 14915867601.

rs1491586760 has merged into rs35185358 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 15:24905123 (GRCh38)
15:25150270 (GRCh37)
Canonical SPDI:: NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:24905112:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2672/1338 (1000Genomes)
HGVS:: NC_000015.10:g.24905123_24905130del, NC_000015.10:g.24905127_24905130del, NC_000015.10:g.24905128_24905130del, NC_000015.10:g.24905129_24905130del, NC_000015.10:g.24905130del, NC_000015.10:g.24905130dup, NC_000015.9:g.25150270_25150277del, NC_000015.9:g.25150274_25150277del, NC_000015.9:g.25150275_25150277del, NC_000015.9:g.25150276_25150277del, NC_000015.9:g.25150277del, NC_000015.9:g.25150277dup, NG_002690.1:g.124214_124221del, NG_002690.1:g.124218_124221del, NG_002690.1:g.124219_124221del, NG_002690.1:g.124220_124221del, NG_002690.1:g.124221del, NG_002690.1:g.124221dup, NG_012958.1:g.86477_86484del, NG_012958.1:g.86481_86484del, NG_012958.1:g.86482_86484del, NG_012958.1:g.86483_86484del, NG_012958.1:g.86484del, NG_012958.1:g.86484dup

Select item 14915854372.

rs1491585437 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC,TTC,TTTTC [Show Flanks]
Chromosome:: 15:25096355 (GRCh38)
15:25341503 (GRCh37)
Canonical SPDI:: NC_000015.10:25096355::TC,NC_000015.10:25096355::TTC,NC_000015.10:25096355::TTTTC
Gene:: SNORD116-25 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTC=0./0 (ALFA)
TTTTC=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.25096355_25096356insTC, NC_000015.10:g.25096355_25096356insTTC, NC_000015.10:g.25096355_25096356insTTTTC, NC_000015.9:g.25341502_25341503insTC, NC_000015.9:g.25341502_25341503insTTC, NC_000015.9:g.25341502_25341503insTTTTC, NG_002690.1:g.315446_315447insTC, NG_002690.1:g.315446_315447insTTC, NG_002690.1:g.315446_315447insTTTTC

Select item 14915818213.

rs1491581821 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 15:24834727 (GRCh38)
15:25079875 (GRCh37)
Canonical SPDI:: NC_000015.10:24834727::A,NC_000015.10:24834727::T
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00527/88 (TOMMO)
T=0.01051/19 (Korea1K)
T=0.06401/37 (NorthernSweden)
HGVS:: NC_000015.10:g.24834727_24834728insA, NC_000015.10:g.24834727_24834728insT, NC_000015.9:g.25079874_25079875insA, NC_000015.9:g.25079874_25079875insT, NG_002690.1:g.53817_53818insA, NG_002690.1:g.53817_53818insT, NG_012958.1:g.16081_16082insA, NG_012958.1:g.16081_16082insT

Select item 14915712724.

rs1491571272 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:24872871 (GRCh38)
15:25118018 (GRCh37)
Canonical SPDI:: NC_000015.10:24872870:CA:
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00978/116 (ALFA)
-=0.00187/38 (TOMMO)
HGVS:: NC_000015.10:g.24872871_24872872del, NC_000015.9:g.25118018_25118019del, NG_002690.1:g.91962_91963del, NG_012958.1:g.54225_54226del

Select item 14915688475.

rs1491568847 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14915661496.

rs1491566149 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:24955603 (GRCh38)
15:25200750 (GRCh37)
Canonical SPDI:: NC_000015.10:24955602:TG:
Gene:: SNRPN (Varview), SNURF (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.24955603_24955604del, NC_000015.9:g.25200750_25200751del, NG_002690.1:g.174694_174695del, NG_012958.1:g.136957_136958del

Select item 14915632687.

rs1491563268 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:24931838 (GRCh38)
15:25176985 (GRCh37)
Canonical SPDI:: NC_000015.10:24931837:CA:
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00019/5 (TOMMO)
HGVS:: NC_000015.10:g.24931838_24931839del, NC_000015.9:g.25176985_25176986del, NG_002690.1:g.150929_150930del, NG_012958.1:g.113192_113193del

Select item 14915597728.

rs1491559772 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:25348667 (GRCh38)
15:25593814 (GRCh37)
Canonical SPDI:: NC_000015.10:25348666:AA:
Gene:: UBE3A (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000015.10:g.25348667_25348668del, NC_000015.9:g.25593814_25593815del, NG_002690.1:g.567758_567759del, NG_009268.1:g.95314_95315del

Select item 14915597209.

rs1491559720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:24949039 (GRCh38)
15:25194187 (GRCh37)
Canonical SPDI:: NC_000015.10:24949039:G:GG
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000015.10:g.24949040dup, NC_000015.9:g.25194187dup, NG_002690.1:g.168131dup, NG_012958.1:g.130394dup

Select item 149155021410.

rs1491550214 has merged into rs1397795516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 15:24918841 (GRCh38)
15:25163988 (GRCh37)
Canonical SPDI:: NC_000015.10:24918834:ATATATATAT:ATATAT,NC_000015.10:24918834:ATATATATAT:ATATATAT,NC_000015.10:24918834:ATATATATAT:ATATATATATAT,NC_000015.10:24918834:ATATATATAT:ATATATATATATAT,NC_000015.10:24918834:ATATATATAT:ATATATATATATATATAT
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.000063/7 (GnomAD)
HGVS:: NC_000015.10:g.24918835AT[3], NC_000015.10:g.24918835AT[4], NC_000015.10:g.24918835AT[6], NC_000015.10:g.24918835AT[7], NC_000015.10:g.24918835AT[9], NC_000015.9:g.25163982AT[3], NC_000015.9:g.25163982AT[4], NC_000015.9:g.25163982AT[6], NC_000015.9:g.25163982AT[7], NC_000015.9:g.25163982AT[9], NG_002690.1:g.137926AT[3], NG_002690.1:g.137926AT[4], NG_002690.1:g.137926AT[6], NG_002690.1:g.137926AT[7], NG_002690.1:g.137926AT[9], NG_012958.1:g.100189AT[3], NG_012958.1:g.100189AT[4], NG_012958.1:g.100189AT[6], NG_012958.1:g.100189AT[7], NG_012958.1:g.100189AT[9]

Select item 149154378011.

rs1491543780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 15:24918650 (GRCh38)
15:25163798 (GRCh37)
Canonical SPDI:: NC_000015.10:24918650:CA:CACA
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000015.10:g.24918651_24918652dup, NC_000015.9:g.25163798_25163799dup, NG_002690.1:g.137742_137743dup, NG_012958.1:g.100005_100006dup

Select item 149154084812.

rs1491540848 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149153733313.

rs1491537333 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:24918892 (GRCh38)
15:25164039 (GRCh37)
Canonical SPDI:: NC_000015.10:24918891:AA:
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.24918892_24918893del, NC_000015.9:g.25164039_25164040del, NG_002690.1:g.137983_137984del, NG_012958.1:g.100246_100247del

Select item 149153162114.

rs1491531621 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAATATGTATTTACATA [Show Flanks]
Chromosome:: 15:25275333 (GRCh38)
15:25520481 (GRCh37)
Canonical SPDI:: NC_000015.10:25275333:TATTTACATACAAAATATGTATTTACATA:TATTTACATACAAAATATGTATTTACATACAAAATATGTATTTACATA
Gene:: SNHG14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATTTACATACAAAATATG=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.25275344_25275362dup, NC_000015.9:g.25520491_25520509dup, NG_002690.1:g.494435_494453dup

Select item 149152857515.

rs1491528575 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:25334606 (GRCh38)
15:25579754 (GRCh37)
Canonical SPDI:: NC_000015.10:25334606::G
Gene:: UBE3A (Varview), SNHG14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00006/1 (GnomAD)
HGVS:: NC_000015.10:g.25334606_25334607insG, NC_000015.9:g.25579753_25579754insG, NG_002690.1:g.553697_553698insG, NM_130839.5:c.*4530_*4531insC, XM_011521995.4:c.*4530_*4531insC, NM_130838.4:c.*4530_*4531insC, XM_017022550.3:c.*4530_*4531insC, XM_017022547.3:c.*4530_*4531insC, XM_017022548.3:c.*4530_*4531insC, NM_001354543.2:c.*4530_*4531insC, NM_001354540.2:c.*4530_*4531insC, NM_001354509.2:c.*4530_*4531insC, NM_001354541.2:c.*4530_*4531insC, NM_001354507.2:c.*4530_*4531insC, NM_001354544.2:c.*4530_*4531insC, NM_001354508.2:c.*4530_*4531insC, NM_001354513.2:c.*4530_*4531insC, NM_001354512.2:c.*4530_*4531insC, NM_001354511.2:c.*4530_*4531insC, NM_001354506.2:c.*4530_*4531insC, NM_001354523.2:c.*4530_*4531insC, NM_001354539.2:c.*4530_*4531insC, NM_001354547.2:c.*4530_*4531insC, NM_001354538.2:c.*4530_*4531insC, NM_001354542.2:c.*4530_*4531insC, NM_001354545.2:c.*4530_*4531insC, NR_148916.2:n.7661_7662insC, NM_001354546.2:c.*4530_*4531insC, XM_024450043.2:c.*4530_*4531insC, NM_001354548.2:c.*4530_*4531insC, NM_001354549.2:c.*4530_*4531insC, NM_001354550.2:c.*4530_*4531insC, NM_001354551.2:c.*4530_*4531insC, XM_047433009.1:c.*4530_*4531insC, XM_047433008.1:c.*4530_*4531insC, XM_047433016.1:c.*4530_*4531insC, XM_047433017.1:c.*4530_*4531insC, XM_047433007.1:c.*4530_*4531insC, XM_047433015.1:c.*4530_*4531insC, XM_047433011.1:c.*4530_*4531insC, XM_047433013.1:c.*4530_*4531insC, XM_047433012.1:c.*4530_*4531insC, XM_047433014.1:c.*4530_*4531insC, XM_047433020.1:c.*4530_*4531insC, XM_047433018.1:c.*4530_*4531insC, XM_047433010.1:c.*4530_*4531insC, XM_047433019.1:c.*4530_*4531insC, XM_047433021.1:c.*4530_*4531insC

Select item 149152775716.

rs1491527757 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:25132879 (GRCh38)
15:25378026 (GRCh37)
Canonical SPDI:: NC_000015.10:25132878:CA:
Gene:: SNHG14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000015.10:g.25132879_25132880del, NC_000015.9:g.25378026_25378027del, NG_002690.1:g.351970_351971del, NG_021436.1:g.2238_2239del

Select item 149151668117.

rs1491516681 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:24833104 (GRCh38)
15:25078251 (GRCh37)
Canonical SPDI:: NC_000015.10:24833103:CA:
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.24833104_24833105del, NC_000015.9:g.25078251_25078252del, NG_002690.1:g.52194_52195del, NG_012958.1:g.14458_14459del

Select item 149150549418.

rs1491505494 has merged into rs11341629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 15:24905521 (GRCh38)
15:25150668 (GRCh37)
Canonical SPDI:: NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:24905508:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1679/647 (ALSPAC)
A=0.3472/1739 (1000Genomes)
HGVS:: NC_000015.10:g.24905521_24905525del, NC_000015.10:g.24905522_24905525del, NC_000015.10:g.24905523_24905525del, NC_000015.10:g.24905524_24905525del, NC_000015.10:g.24905525del, NC_000015.10:g.24905525dup, NC_000015.10:g.24905524_24905525dup, NC_000015.9:g.25150668_25150672del, NC_000015.9:g.25150669_25150672del, NC_000015.9:g.25150670_25150672del, NC_000015.9:g.25150671_25150672del, NC_000015.9:g.25150672del, NC_000015.9:g.25150672dup, NC_000015.9:g.25150671_25150672dup, NG_002690.1:g.124612_124616del, NG_002690.1:g.124613_124616del, NG_002690.1:g.124614_124616del, NG_002690.1:g.124615_124616del, NG_002690.1:g.124616del, NG_002690.1:g.124616dup, NG_002690.1:g.124615_124616dup, NG_012958.1:g.86875_86879del, NG_012958.1:g.86876_86879del, NG_012958.1:g.86877_86879del, NG_012958.1:g.86878_86879del, NG_012958.1:g.86879del, NG_012958.1:g.86879dup, NG_012958.1:g.86878_86879dup

Select item 149150457819.

rs1491504578 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:24881579 (GRCh38)
15:25126727 (GRCh37)
Canonical SPDI:: NC_000015.10:24881579::A
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00589/10 (Korea1K)
A=0.01049/159 (TOMMO)
HGVS:: NC_000015.10:g.24881579_24881580insA, NC_000015.9:g.25126726_25126727insA, NG_002690.1:g.100670_100671insA, NG_012958.1:g.62933_62934insA

Select item 149150238120.

rs1491502381 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:24922037 (GRCh38)
15:25167184 (GRCh37)
Canonical SPDI:: NC_000015.10:24922036:TA:
Gene:: SNRPN (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.24922037_24922038del, NC_000015.9:g.25167184_25167185del, NG_002690.1:g.141128_141129del, NG_012958.1:g.103391_103392del

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