SNP Links for Gene (Select 54464) - SNP

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Select item 14915836031.

rs1491583603 has merged into rs57048667 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 3:142334804 (GRCh38)
3:142053646 (GRCh37)
Canonical SPDI:: NC_000003.12:142334801:AAAA:AA,NC_000003.12:142334801:AAAA:AAA,NC_000003.12:142334801:AAAA:AAAAA,NC_000003.12:142334801:AAAA:AAAAAA
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.01164/195 (TOMMO)
-=0.01747/32 (Korea1K)
-=0.025/1 (GENOME_DK)
-=0.02833/17 (NorthernSweden)
HGVS:: NC_000003.12:g.142334804_142334805del, NC_000003.12:g.142334805del, NC_000003.12:g.142334805dup, NC_000003.12:g.142334804_142334805dup, NC_000003.11:g.142053646_142053647del, NC_000003.11:g.142053647del, NC_000003.11:g.142053647dup, NC_000003.11:g.142053646_142053647dup

Select item 14915372492.

rs1491537249 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 3:142431919 (GRCh38)
3:142150761 (GRCh37)
Canonical SPDI:: NC_000003.12:142431913:ATATATATA:ATATA,NC_000003.12:142431913:ATATATATA:ATATATA
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.00018/5 (TOMMO)
-=0.0002/4 (GnomAD)
HGVS:: NC_000003.12:g.142431915TA[2], NC_000003.12:g.142431915TA[3], NC_000003.11:g.142150757TA[2], NC_000003.11:g.142150757TA[3]

Select item 14915141943.

rs1491514194 has merged into rs34983908 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 3:142323872 (GRCh38)
3:142042714 (GRCh37)
Canonical SPDI:: NC_000003.12:142323866:TTTTTTTTTT:TTTTT,NC_000003.12:142323866:TTTTTTTTTT:TTTTTT,NC_000003.12:142323866:TTTTTTTTTT:TTTTTTT,NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTT,NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.02561/19 (1000Genomes)
-=0.16167/97 (NorthernSweden)
-=0.2/8 (GENOME_DK)
-=0.21818/809 (TWINSUK)
-=0.22081/851 (ALSPAC)
HGVS:: NC_000003.12:g.142323872_142323876del, NC_000003.12:g.142323873_142323876del, NC_000003.12:g.142323874_142323876del, NC_000003.12:g.142323875_142323876del, NC_000003.12:g.142323876del, NC_000003.12:g.142323876dup, NC_000003.11:g.142042714_142042718del, NC_000003.11:g.142042715_142042718del, NC_000003.11:g.142042716_142042718del, NC_000003.11:g.142042717_142042718del, NC_000003.11:g.142042718del, NC_000003.11:g.142042718dup

Select item 14914854344.

rs1491485434 [Homo sapiens]

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

Select item 14914833275.

rs1491483327 has merged into rs775353554 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 3:142431913 (GRCh38)
3:142150755 (GRCh37)
Canonical SPDI:: NC_000003.12:142431911:AAA:A,NC_000003.12:142431911:AAA:AA
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.01062/137 (TOMMO)
HGVS:: NC_000003.12:g.142431913_142431914del, NC_000003.12:g.142431914del, NC_000003.11:g.142150755_142150756del, NC_000003.11:g.142150756del

Select item 14914678206.

rs1491467820 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:142361986 (GRCh38)
3:142080829 (GRCh37)
Canonical SPDI:: NC_000003.12:142361986:G:GG
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000003.12:g.142361987dup, NC_000003.11:g.142080829dup

Select item 14914525707.

rs1491452570 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAT [Show Flanks]
Chromosome:: 3:142431914 (GRCh38)
3:142150757 (GRCh37)
Canonical SPDI:: NC_000003.12:142431914:TATAT:TATATTATAT
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TATAT=0.12664/3505 (GnomAD)
TATAT=0.15643/2496 (TOMMO)
HGVS:: NC_000003.12:g.142431915_142431919dup, NC_000003.11:g.142150757_142150761dup

Select item 14914280438.

rs1491428043 has merged into rs201046497 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:142391745 (GRCh38)
3:142110587 (GRCh37)
Canonical SPDI:: NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.142391745_142391750del, NC_000003.12:g.142391746_142391750del, NC_000003.12:g.142391747_142391750del, NC_000003.12:g.142391748_142391750del, NC_000003.12:g.142391749_142391750del, NC_000003.12:g.142391750del, NC_000003.12:g.142391750dup, NC_000003.12:g.142391749_142391750dup, NC_000003.12:g.142391748_142391750dup, NC_000003.12:g.142391747_142391750dup, NC_000003.11:g.142110587_142110592del, NC_000003.11:g.142110588_142110592del, NC_000003.11:g.142110589_142110592del, NC_000003.11:g.142110590_142110592del, NC_000003.11:g.142110591_142110592del, NC_000003.11:g.142110592del, NC_000003.11:g.142110592dup, NC_000003.11:g.142110591_142110592dup, NC_000003.11:g.142110590_142110592dup, NC_000003.11:g.142110589_142110592dup

Select item 14914187349.

rs1491418734 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA [Show Flanks]
Chromosome:: 3:142334765 (GRCh38)
3:142053608 (GRCh37)
Canonical SPDI:: NC_000003.12:142334765:A:ACA,NC_000003.12:142334765:A:ACACA,NC_000003.12:142334765:A:ACACACA,NC_000003.12:142334765:A:ACACACACA
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000003.12:g.142334766_142334767insCA, NC_000003.12:g.142334766_142334767insCACA, NC_000003.12:g.142334767CA[3], NC_000003.12:g.142334767CA[4], NC_000003.11:g.142053608_142053609insCA, NC_000003.11:g.142053608_142053609insCACA, NC_000003.11:g.142053609CA[3], NC_000003.11:g.142053609CA[4]

Select item 149141081110.

rs1491410811 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:142416925 (GRCh38)
3:142135767 (GRCh37)
Canonical SPDI:: NC_000003.12:142416924:AG:
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.142416925_142416926del, NC_000003.11:g.142135767_142135768del

Select item 149139712411.

rs1491397124 has merged into rs74269485 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:142330608 (GRCh38)
3:142049450 (GRCh37)
Canonical SPDI:: NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:142330593:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00333/2 (NorthernSweden)
-=0.22404/1122 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000003.12:g.142330608_142330610del, NC_000003.12:g.142330609_142330610del, NC_000003.12:g.142330610del, NC_000003.12:g.142330610dup, NC_000003.12:g.142330609_142330610dup, NC_000003.12:g.142330608_142330610dup, NC_000003.12:g.142330607_142330610dup, NC_000003.11:g.142049450_142049452del, NC_000003.11:g.142049451_142049452del, NC_000003.11:g.142049452del, NC_000003.11:g.142049452dup, NC_000003.11:g.142049451_142049452dup, NC_000003.11:g.142049450_142049452dup, NC_000003.11:g.142049449_142049452dup

Select item 149138747112.

rs1491387471 [Homo sapiens]

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

Select item 149137496013.

rs1491374960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 3:142432249 (GRCh38)
3:142151092 (GRCh37)
Canonical SPDI:: NC_000003.12:142432249:T:TAT
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.142432250_142432251insAT, NC_000003.11:g.142151092_142151093insAT

Select item 149129986214.

rs1491299862 has merged into rs993928370 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:142416926 (GRCh38)
3:142135768 (GRCh37)
Canonical SPDI:: NC_000003.12:142416925:GGGGG:GGGG,NC_000003.12:142416925:GGGGG:GGGGGG
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142416930del, NC_000003.12:g.142416930dup, NC_000003.11:g.142135772del, NC_000003.11:g.142135772dup

Select item 149128944015.

rs1491289440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 3:142417017 (GRCh38)
3:142135860 (GRCh37)
Canonical SPDI:: NC_000003.12:142417017:A:AGA
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142417018_142417019insGA, NC_000003.11:g.142135860_142135861insGA

Select item 149127534416.

rs1491275344 has merged into rs201046497 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:142391745 (GRCh38)
3:142110587 (GRCh37)
Canonical SPDI:: NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:142391736:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.142391745_142391750del, NC_000003.12:g.142391746_142391750del, NC_000003.12:g.142391747_142391750del, NC_000003.12:g.142391748_142391750del, NC_000003.12:g.142391749_142391750del, NC_000003.12:g.142391750del, NC_000003.12:g.142391750dup, NC_000003.12:g.142391749_142391750dup, NC_000003.12:g.142391748_142391750dup, NC_000003.12:g.142391747_142391750dup, NC_000003.11:g.142110587_142110592del, NC_000003.11:g.142110588_142110592del, NC_000003.11:g.142110589_142110592del, NC_000003.11:g.142110590_142110592del, NC_000003.11:g.142110591_142110592del, NC_000003.11:g.142110592del, NC_000003.11:g.142110592dup, NC_000003.11:g.142110591_142110592dup, NC_000003.11:g.142110590_142110592dup, NC_000003.11:g.142110589_142110592dup

Select item 149127349517.

rs1491273495 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:142361964 (GRCh38)
3:142080807 (GRCh37)
Canonical SPDI:: NC_000003.12:142361964::C
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.142361964_142361965insC, NC_000003.11:g.142080806_142080807insC

Select item 149126681618.

rs1491266816 has merged into rs66486380 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:142375990 (GRCh38)
3:142094832 (GRCh37)
Canonical SPDI:: NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000003.12:142375974:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
-=0.00124/4 (1000Genomes)
HGVS:: NC_000003.12:g.142375976AC[7], NC_000003.12:g.142375976AC[8], NC_000003.12:g.142375976AC[9], NC_000003.12:g.142375976AC[10], NC_000003.12:g.142375976AC[11], NC_000003.12:g.142375976AC[12], NC_000003.12:g.142375976AC[14], NC_000003.12:g.142375976AC[15], NC_000003.12:g.142375976AC[16], NC_000003.12:g.142375976AC[17], NC_000003.12:g.142375976AC[18], NC_000003.12:g.142375976AC[19], NC_000003.12:g.142375976AC[22], NC_000003.11:g.142094818AC[7], NC_000003.11:g.142094818AC[8], NC_000003.11:g.142094818AC[9], NC_000003.11:g.142094818AC[10], NC_000003.11:g.142094818AC[11], NC_000003.11:g.142094818AC[12], NC_000003.11:g.142094818AC[14], NC_000003.11:g.142094818AC[15], NC_000003.11:g.142094818AC[16], NC_000003.11:g.142094818AC[17], NC_000003.11:g.142094818AC[18], NC_000003.11:g.142094818AC[19], NC_000003.11:g.142094818AC[22]

Select item 149122040619.

rs1491220406 has merged into rs1425125451 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 3:142319907 (GRCh38)
3:142038749 (GRCh37)
Canonical SPDI:: NC_000003.12:142319904:TATA:TA,NC_000003.12:142319904:TATA:TATATA
Gene:: XRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142319905TA[1], NC_000003.12:g.142319905TA[3], NC_000003.11:g.142038747TA[1], NC_000003.11:g.142038747TA[3]

Select item 149117801220.

rs1491178012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:142362947 (GRCh38)
3:142081790 (GRCh37)
Canonical SPDI:: NC_000003.12:142362947:TTTTTTT:TTTTTTTT
Gene:: XRN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.142362954dup, NC_000003.11:g.142081796dup

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