SNP Links for Gene (Select 51571) - SNP

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Select item 14915822611.

rs1491582261 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:129959059 (GRCh38)
8:130971305 (GRCh37)
Canonical SPDI:: NC_000008.11:129959058:CA:
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.00091/25 (TOMMO)
HGVS:: NC_000008.11:g.129959059_129959060del, NC_000008.10:g.130971305_130971306del

Select item 14915773722.

rs1491577372 has merged into rs1194281985 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 8:130006647 (GRCh38)
8:131018893 (GRCh37)
Canonical SPDI:: NC_000008.11:130006640:TATATATATA:TATATA,NC_000008.11:130006640:TATATATATA:TATATATA,NC_000008.11:130006640:TATATATATA:TATATATATATA
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TA=0.00008/3 (GnomAD)
TA=0.00025/4 (TOMMO)
HGVS:: NC_000008.11:g.130006641TA[3], NC_000008.11:g.130006641TA[4], NC_000008.11:g.130006641TA[6], NC_000008.10:g.131018887TA[3], NC_000008.10:g.131018887TA[4], NC_000008.10:g.131018887TA[6]

Select item 14915728373.

rs1491572837 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:129957982 (GRCh38)
8:130970228 (GRCh37)
Canonical SPDI:: NC_000008.11:129957980:ATA:A
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000008.11:g.129957982_129957983del, NC_000008.10:g.130970228_130970229del

Select item 14915385824.

rs1491538582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:129987567 (GRCh38)
8:130999814 (GRCh37)
Canonical SPDI:: NC_000008.11:129987567:C:CC
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000008.11:g.129987568dup, NC_000008.10:g.130999814dup

Select item 14915279425.

rs1491527942 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:129987568 (GRCh38)
8:130999814 (GRCh37)
Canonical SPDI:: NC_000008.11:129987566:TCT:T
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.01054/125 (ALFA)
HGVS:: NC_000008.11:g.129987568_129987569del, NC_000008.10:g.130999814_130999815del

Select item 14915179866.

rs1491517986 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:129997116 (GRCh38)
8:131009362 (GRCh37)
Canonical SPDI:: NC_000008.11:129997115:AG:
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.129997116_129997117del, NC_000008.10:g.131009362_131009363del

Select item 14914954067.

rs1491495406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATACGTATATATATACA [Show Flanks]
Chromosome:: 8:130006673 (GRCh38)
8:131018920 (GRCh37)
Canonical SPDI:: NC_000008.11:130006673:GTATATATATACA:GTATATATATACATATATACGTATATATATACA
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.130006686_130006687insTATATACGTATATATATACA, NC_000008.10:g.131018932_131018933insTATATACGTATATATATACA

Select item 14914843298.

rs1491484329 has merged into rs55873104 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:129969029 (GRCh38)
8:130981275 (GRCh37)
Canonical SPDI:: NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:129969015:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.129969029_129969031del, NC_000008.11:g.129969030_129969031del, NC_000008.11:g.129969031del, NC_000008.11:g.129969031dup, NC_000008.11:g.129969030_129969031dup, NC_000008.11:g.129969029_129969031dup, NC_000008.11:g.129969028_129969031dup, NC_000008.11:g.129969027_129969031dup, NC_000008.11:g.129969026_129969031dup, NC_000008.11:g.129969025_129969031dup, NC_000008.11:g.129969024_129969031dup, NC_000008.11:g.129969023_129969031dup, NC_000008.11:g.129969022_129969031dup, NC_000008.11:g.129969021_129969031dup, NC_000008.11:g.129969020_129969031dup, NC_000008.11:g.129969019_129969031dup, NC_000008.11:g.129969018_129969031dup, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.129969031_129969032insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981275_130981277del, NC_000008.10:g.130981276_130981277del, NC_000008.10:g.130981277del, NC_000008.10:g.130981277dup, NC_000008.10:g.130981276_130981277dup, NC_000008.10:g.130981275_130981277dup, NC_000008.10:g.130981274_130981277dup, NC_000008.10:g.130981273_130981277dup, NC_000008.10:g.130981272_130981277dup, NC_000008.10:g.130981271_130981277dup, NC_000008.10:g.130981270_130981277dup, NC_000008.10:g.130981269_130981277dup, NC_000008.10:g.130981268_130981277dup, NC_000008.10:g.130981267_130981277dup, NC_000008.10:g.130981266_130981277dup, NC_000008.10:g.130981265_130981277dup, NC_000008.10:g.130981264_130981277dup, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.130981277_130981278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914560409.

rs1491456040 [Homo sapiens]

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

Select item 149144748610.

rs1491447486 has merged into rs3076956 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 8:129924123 (GRCh38)
8:130936369 (GRCh37)
Canonical SPDI:: NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:129924109:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYRIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4732/2370 (1000Genomes)
HGVS:: NC_000008.11:g.129924123_129924127del, NC_000008.11:g.129924124_129924127del, NC_000008.11:g.129924125_129924127del, NC_000008.11:g.129924126_129924127del, NC_000008.11:g.129924127del, NC_000008.11:g.129924127dup, NC_000008.11:g.129924126_129924127dup, NC_000008.11:g.129924122_129924127dup, NC_000008.10:g.130936369_130936373del, NC_000008.10:g.130936370_130936373del, NC_000008.10:g.130936371_130936373del, NC_000008.10:g.130936372_130936373del, NC_000008.10:g.130936373del, NC_000008.10:g.130936373dup, NC_000008.10:g.130936372_130936373dup, NC_000008.10:g.130936368_130936373dup

Select item 149144312911.

rs1491443129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:129997116 (GRCh38)
8:131009363 (GRCh37)
Canonical SPDI:: NC_000008.11:129997116:GG:GGG
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00004/2 (GnomAD)
HGVS:: NC_000008.11:g.129997118dup, NC_000008.10:g.131009364dup

Select item 149143784712.

rs1491437847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:129991943 (GRCh38)
8:131004189 (GRCh37)
Canonical SPDI:: NC_000008.11:129991942:CA:
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.129991943_129991944del, NC_000008.10:g.131004189_131004190del

Select item 149142702313.

rs1491427023 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 8:129997124 (GRCh38)
8:131009370 (GRCh37)
Canonical SPDI:: NC_000008.11:129997123:GG:
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.129997124_129997125del, NC_000008.10:g.131009370_131009371del

Select item 149142469314.

rs1491424693 has merged into rs58630436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:129980235 (GRCh38)
8:130992481 (GRCh37)
Canonical SPDI:: NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:129980227:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
AA=0.4625/2316 (1000Genomes)
HGVS:: NC_000008.11:g.129980235_129980246del, NC_000008.11:g.129980237_129980246del, NC_000008.11:g.129980238_129980246del, NC_000008.11:g.129980239_129980246del, NC_000008.11:g.129980240_129980246del, NC_000008.11:g.129980242_129980246del, NC_000008.11:g.129980243_129980246del, NC_000008.11:g.129980244_129980246del, NC_000008.11:g.129980245_129980246del, NC_000008.11:g.129980246del, NC_000008.11:g.129980246dup, NC_000008.11:g.129980245_129980246dup, NC_000008.11:g.129980244_129980246dup, NC_000008.11:g.129980243_129980246dup, NC_000008.11:g.129980242_129980246dup, NC_000008.11:g.129980241_129980246dup, NC_000008.11:g.129980240_129980246dup, NC_000008.11:g.129980239_129980246dup, NC_000008.11:g.129980238_129980246dup, NC_000008.11:g.129980237_129980246dup, NC_000008.11:g.129980236_129980246dup, NC_000008.11:g.129980235_129980246dup, NC_000008.11:g.129980233_129980246dup, NC_000008.11:g.129980246_129980247insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.130992481_130992492del, NC_000008.10:g.130992483_130992492del, NC_000008.10:g.130992484_130992492del, NC_000008.10:g.130992485_130992492del, NC_000008.10:g.130992486_130992492del, NC_000008.10:g.130992488_130992492del, NC_000008.10:g.130992489_130992492del, NC_000008.10:g.130992490_130992492del, NC_000008.10:g.130992491_130992492del, NC_000008.10:g.130992492del, NC_000008.10:g.130992492dup, NC_000008.10:g.130992491_130992492dup, NC_000008.10:g.130992490_130992492dup, NC_000008.10:g.130992489_130992492dup, NC_000008.10:g.130992488_130992492dup, NC_000008.10:g.130992487_130992492dup, NC_000008.10:g.130992486_130992492dup, NC_000008.10:g.130992485_130992492dup, NC_000008.10:g.130992484_130992492dup, NC_000008.10:g.130992483_130992492dup, NC_000008.10:g.130992482_130992492dup, NC_000008.10:g.130992481_130992492dup, NC_000008.10:g.130992479_130992492dup, NC_000008.10:g.130992492_130992493insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149141911015.

rs1491419110 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:129920262 (GRCh38)
8:130932508 (GRCh37)
Canonical SPDI:: NC_000008.11:129920260:TCT:T
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.129920262_129920263del, NC_000008.10:g.130932508_130932509del

Select item 149141154616.

rs1491411546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:129979143 (GRCh38)
8:130991389 (GRCh37)
Canonical SPDI:: NC_000008.11:129979140:AAAA:AA
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.129979143_129979144del, NC_000008.10:g.130991389_130991390del

Select item 149136277117.

rs1491362771 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:129924109 (GRCh38)
8:130936355 (GRCh37)
Canonical SPDI:: NC_000008.11:129924108:CA:
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00042/12 (GnomAD)
HGVS:: NC_000008.11:g.129924109_129924110del, NC_000008.10:g.130936355_130936356del

Select item 149132322418.

rs1491323224 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTTTTT [Show Flanks]
Chromosome:: 8:129969016 (GRCh38)
8:130981263 (GRCh37)
Canonical SPDI:: NC_000008.11:129969016:TTTTTTTT:TTTTTTTTATTTTTTTT
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTATTTTTTTT=0.00008/1 (ALFA)
TTTTTTTTA=0.00075/3 (GnomAD)
HGVS:: NC_000008.11:g.129969017_129969024T[8]ATTTTTTTT[1], NC_000008.10:g.130981263_130981270T[8]ATTTTTTTT[1]

Select item 149130774419.

rs1491307744 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>-,AAATAAAT [Show Flanks]
Chromosome:: 8:129979154 (GRCh38)
8:130991400 (GRCh37)
Canonical SPDI:: NC_000008.11:129979141:AAATAAATAAATAAAT:AAATAAATAAAT,NC_000008.11:129979141:AAATAAATAAATAAAT:AAATAAATAAATAAATAAAT
Gene:: CYRIB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAAT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.001638/3 (Korea1K)
HGVS:: NC_000008.11:g.129979142AAAT[3], NC_000008.11:g.129979142AAAT[5], NC_000008.10:g.130991388AAAT[3], NC_000008.10:g.130991388AAAT[5]

Select item 149127504620.

rs1491275046 has merged into rs1179951027 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 8:130006674 (GRCh38)
8:131018920 (GRCh37)
Canonical SPDI:: NC_000008.11:130006672:TGT:T,NC_000008.11:130006672:TGT:TGTGT
Gene:: CYRIB (Varview), LOC124902025 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.130006674_130006675del, NC_000008.11:g.130006674_130006675dup, NC_000008.10:g.131018920_131018921del, NC_000008.10:g.131018920_131018921dup

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