SNP Links for Nucleotide (Select 1140176886) - SNP

Links from Nucleotide

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Select item 14915890441.

rs1491589044 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:99786061 (GRCh38)
14:100252398 (GRCh37)
Canonical SPDI:: NC_000014.9:99786060:CA:
Gene:: EML1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000014.9:g.99786061_99786062del, NC_000014.8:g.100252398_100252399del, NG_052827.1:g.53363_53364del

Select item 14915693052.

rs1491569305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 14:99838907 (GRCh38)
14:100305245 (GRCh37)
Canonical SPDI:: NC_000014.9:99838907:C:CAC
Gene:: EML1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000014.9:g.99838908_99838909insAC, NC_000014.8:g.100305245_100305246insAC, NG_052827.1:g.106210_106211insAC

Select item 14915541163.

rs1491554116 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:99903784 (GRCh38)
14:100370121 (GRCh37)
Canonical SPDI:: NC_000014.9:99903783:CA:
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00018/3 (ALFA)
HGVS:: NC_000014.9:g.99903784_99903785del, NC_000014.8:g.100370121_100370122del, NG_052827.1:g.171086_171087del

Select item 14915520564.

rs1491552056 has merged into rs111421409 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 14:99811175 (GRCh38)
14:100277512 (GRCh37)
Canonical SPDI:: NC_000014.9:99811166:TTTTTTTTTT:TTTTTTTT,NC_000014.9:99811166:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:99811166:TTTTTTTTTT:TTTTTTTTTTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.017537/4642 (TOPMED)
HGVS:: NC_000014.9:g.99811175_99811176del, NC_000014.9:g.99811176del, NC_000014.9:g.99811176dup, NC_000014.8:g.100277512_100277513del, NC_000014.8:g.100277513del, NC_000014.8:g.100277513dup, NG_052827.1:g.78477_78478del, NG_052827.1:g.78478del, NG_052827.1:g.78478dup

Select item 14915328145.

rs1491532814 has merged into rs56240053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:99786074 (GRCh38)
14:100252411 (GRCh37)
Canonical SPDI:: NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:99786061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.99786074_99786083del, NC_000014.9:g.99786075_99786083del, NC_000014.9:g.99786076_99786083del, NC_000014.9:g.99786077_99786083del, NC_000014.9:g.99786078_99786083del, NC_000014.9:g.99786079_99786083del, NC_000014.9:g.99786080_99786083del, NC_000014.9:g.99786081_99786083del, NC_000014.9:g.99786082_99786083del, NC_000014.9:g.99786083del, NC_000014.9:g.99786083dup, NC_000014.9:g.99786082_99786083dup, NC_000014.9:g.99786081_99786083dup, NC_000014.9:g.99786080_99786083dup, NC_000014.9:g.99786079_99786083dup, NC_000014.9:g.99786078_99786083dup, NC_000014.9:g.99786077_99786083dup, NC_000014.9:g.99786075_99786083dup, NC_000014.9:g.99786073_99786083dup, NC_000014.9:g.99786072_99786083dup, NC_000014.9:g.99786071_99786083dup, NC_000014.9:g.99786069_99786083dup, NC_000014.9:g.99786068_99786083dup, NC_000014.9:g.99786067_99786083dup, NC_000014.9:g.99786066_99786083dup, NC_000014.8:g.100252411_100252420del, NC_000014.8:g.100252412_100252420del, NC_000014.8:g.100252413_100252420del, NC_000014.8:g.100252414_100252420del, NC_000014.8:g.100252415_100252420del, NC_000014.8:g.100252416_100252420del, NC_000014.8:g.100252417_100252420del, NC_000014.8:g.100252418_100252420del, NC_000014.8:g.100252419_100252420del, NC_000014.8:g.100252420del, NC_000014.8:g.100252420dup, NC_000014.8:g.100252419_100252420dup, NC_000014.8:g.100252418_100252420dup, NC_000014.8:g.100252417_100252420dup, NC_000014.8:g.100252416_100252420dup, NC_000014.8:g.100252415_100252420dup, NC_000014.8:g.100252414_100252420dup, NC_000014.8:g.100252412_100252420dup, NC_000014.8:g.100252410_100252420dup, NC_000014.8:g.100252409_100252420dup, NC_000014.8:g.100252408_100252420dup, NC_000014.8:g.100252406_100252420dup, NC_000014.8:g.100252405_100252420dup, NC_000014.8:g.100252404_100252420dup, NC_000014.8:g.100252403_100252420dup, NG_052827.1:g.53376_53385del, NG_052827.1:g.53377_53385del, NG_052827.1:g.53378_53385del, NG_052827.1:g.53379_53385del, NG_052827.1:g.53380_53385del, NG_052827.1:g.53381_53385del, NG_052827.1:g.53382_53385del, NG_052827.1:g.53383_53385del, NG_052827.1:g.53384_53385del, NG_052827.1:g.53385del, NG_052827.1:g.53385dup, NG_052827.1:g.53384_53385dup, NG_052827.1:g.53383_53385dup, NG_052827.1:g.53382_53385dup, NG_052827.1:g.53381_53385dup, NG_052827.1:g.53380_53385dup, NG_052827.1:g.53379_53385dup, NG_052827.1:g.53377_53385dup, NG_052827.1:g.53375_53385dup, NG_052827.1:g.53374_53385dup, NG_052827.1:g.53373_53385dup, NG_052827.1:g.53371_53385dup, NG_052827.1:g.53370_53385dup, NG_052827.1:g.53369_53385dup, NG_052827.1:g.53368_53385dup

Select item 14915312256.

rs1491531225 has merged into rs368374718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 14:99838928 (GRCh38)
14:100305265 (GRCh37)
Canonical SPDI:: NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:99838918:GTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
-=0.000268/71 (TOPMED)
-=0.483653/1864 (ALSPAC)
-=0.492718/1827 (TWINSUK)
HGVS:: NC_000014.9:g.99838920TG[4], NC_000014.9:g.99838920TG[5], NC_000014.9:g.99838920TG[7], NC_000014.9:g.99838920TG[9], NC_000014.9:g.99838920TG[10], NC_000014.9:g.99838920TG[11], NC_000014.9:g.99838920TG[12], NC_000014.9:g.99838920TG[13], NC_000014.9:g.99838920TG[14], NC_000014.8:g.100305257TG[4], NC_000014.8:g.100305257TG[5], NC_000014.8:g.100305257TG[7], NC_000014.8:g.100305257TG[9], NC_000014.8:g.100305257TG[10], NC_000014.8:g.100305257TG[11], NC_000014.8:g.100305257TG[12], NC_000014.8:g.100305257TG[13], NC_000014.8:g.100305257TG[14], NG_052827.1:g.106222TG[4], NG_052827.1:g.106222TG[5], NG_052827.1:g.106222TG[7], NG_052827.1:g.106222TG[9], NG_052827.1:g.106222TG[10], NG_052827.1:g.106222TG[11], NG_052827.1:g.106222TG[12], NG_052827.1:g.106222TG[13], NG_052827.1:g.106222TG[14]

Select item 14915244037.

rs1491524403 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:99928050 (GRCh38)
14:100394387 (GRCh37)
Canonical SPDI:: NC_000014.9:99928049:AT:
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00055/7 (TOMMO)
HGVS:: NC_000014.9:g.99928050_99928051del, NC_000014.8:g.100394387_100394388del, NG_052827.1:g.195352_195353del

Select item 14915225728.

rs1491522572 [Homo sapiens]

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

Select item 14914996479.

rs1491499647 has merged into rs34293662 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:99761924 (GRCh38)
14:100228261 (GRCh37)
Canonical SPDI:: NC_000014.9:99761923:CA:
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.0507/188 (TWINSUK)
-=0.06175/238 (ALSPAC)
HGVS:: NC_000014.9:g.99761924_99761925del, NC_000014.8:g.100228261_100228262del, NG_052827.1:g.29226_29227del

Select item 149149229910.

rs1491492299 has merged into rs71464634 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 14:99796940 (GRCh38)
14:100263277 (GRCh37)
Canonical SPDI:: NC_000014.9:99796936:GAGAGAG:GAG,NC_000014.9:99796936:GAGAGAG:GAGAG,NC_000014.9:99796936:GAGAGAG:GAGAGAGAG,NC_000014.9:99796936:GAGAGAG:GAGAGAGAGAG,NC_000014.9:99796936:GAGAGAG:GAGAGAGAGAGAG,NC_000014.9:99796936:GAGAGAG:GAGAGAGAGAGAGAG,NC_000014.9:99796936:GAGAGAG:GAGAGAGAGAGAGAGAG
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.17073/855 (1000Genomes)
HGVS:: NC_000014.9:g.99796938AG[1], NC_000014.9:g.99796938AG[2], NC_000014.9:g.99796938AG[4], NC_000014.9:g.99796938AG[5], NC_000014.9:g.99796938AG[6], NC_000014.9:g.99796938AG[7], NC_000014.9:g.99796938AG[8], NC_000014.8:g.100263275AG[1], NC_000014.8:g.100263275AG[2], NC_000014.8:g.100263275AG[4], NC_000014.8:g.100263275AG[5], NC_000014.8:g.100263275AG[6], NC_000014.8:g.100263275AG[7], NC_000014.8:g.100263275AG[8], NG_052827.1:g.64240AG[1], NG_052827.1:g.64240AG[2], NG_052827.1:g.64240AG[4], NG_052827.1:g.64240AG[5], NG_052827.1:g.64240AG[6], NG_052827.1:g.64240AG[7], NG_052827.1:g.64240AG[8]

Select item 149145943211.

rs1491459432 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGT [Show Flanks]
Chromosome:: 14:99928050 (GRCh38)
14:100394388 (GRCh37)
Canonical SPDI:: NC_000014.9:99928050::GGT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.99928050_99928051insGGT, NC_000014.8:g.100394387_100394388insGGT, NG_052827.1:g.195352_195353insGGT

Select item 149142942612.

rs1491429426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:99739066 (GRCh38)
14:100205404 (GRCh37)
Canonical SPDI:: NC_000014.9:99739066:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTATGTGTGTGTGTGTGT
Gene:: EML1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000014.9:g.99739067_99739081TG[7]TATGTGTGTGTGTGTGT[1], NC_000014.8:g.100205404_100205418TG[7]TATGTGTGTGTGTGTGT[1], NG_052827.1:g.6369_6383TG[7]TATGTGTGTGTGTGTGT[1]

Select item 149141538213.

rs1491415382 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:99825463 (GRCh38)
14:100291800 (GRCh37)
Canonical SPDI:: NC_000014.9:99825457:AGAGAGA:AGAGA
Gene:: EML1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.99825459GA[2], NC_000014.8:g.100291796GA[2], NG_052827.1:g.92761GA[2]

Select item 149137208614.

rs1491372086 has merged into rs1211025934 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 14:99903799 (GRCh38)
14:100370136 (GRCh37)
Canonical SPDI:: NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1296/70 (NorthernSweden)
HGVS:: NC_000014.9:g.99903799_99903801del, NC_000014.9:g.99903800_99903801del, NC_000014.9:g.99903801del, NC_000014.9:g.99903801dup, NC_000014.9:g.99903800_99903801dup, NC_000014.9:g.99903799_99903801dup, NC_000014.9:g.99903798_99903801dup, NC_000014.9:g.99903797_99903801dup, NC_000014.8:g.100370136_100370138del, NC_000014.8:g.100370137_100370138del, NC_000014.8:g.100370138del, NC_000014.8:g.100370138dup, NC_000014.8:g.100370137_100370138dup, NC_000014.8:g.100370136_100370138dup, NC_000014.8:g.100370135_100370138dup, NC_000014.8:g.100370134_100370138dup, NG_052827.1:g.171101_171103del, NG_052827.1:g.171102_171103del, NG_052827.1:g.171103del, NG_052827.1:g.171103dup, NG_052827.1:g.171102_171103dup, NG_052827.1:g.171101_171103dup, NG_052827.1:g.171100_171103dup, NG_052827.1:g.171099_171103dup

Select item 149136945215.

rs1491369452 has merged into rs1211025934 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 14:99903799 (GRCh38)
14:100370136 (GRCh37)
Canonical SPDI:: NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:99903785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1296/70 (NorthernSweden)
HGVS:: NC_000014.9:g.99903799_99903801del, NC_000014.9:g.99903800_99903801del, NC_000014.9:g.99903801del, NC_000014.9:g.99903801dup, NC_000014.9:g.99903800_99903801dup, NC_000014.9:g.99903799_99903801dup, NC_000014.9:g.99903798_99903801dup, NC_000014.9:g.99903797_99903801dup, NC_000014.8:g.100370136_100370138del, NC_000014.8:g.100370137_100370138del, NC_000014.8:g.100370138del, NC_000014.8:g.100370138dup, NC_000014.8:g.100370137_100370138dup, NC_000014.8:g.100370136_100370138dup, NC_000014.8:g.100370135_100370138dup, NC_000014.8:g.100370134_100370138dup, NG_052827.1:g.171101_171103del, NG_052827.1:g.171102_171103del, NG_052827.1:g.171103del, NG_052827.1:g.171103dup, NG_052827.1:g.171102_171103dup, NG_052827.1:g.171101_171103dup, NG_052827.1:g.171100_171103dup, NG_052827.1:g.171099_171103dup

Select item 149134620216.

rs1491346202 has merged into rs35254638 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 14:99761937 (GRCh38)
14:100228274 (GRCh37)
Canonical SPDI:: NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:99761924:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3267/1636 (1000Genomes)
HGVS:: NC_000014.9:g.99761937_99761941del, NC_000014.9:g.99761938_99761941del, NC_000014.9:g.99761939_99761941del, NC_000014.9:g.99761940_99761941del, NC_000014.9:g.99761941del, NC_000014.9:g.99761941dup, NC_000014.9:g.99761940_99761941dup, NC_000014.9:g.99761939_99761941dup, NC_000014.9:g.99761938_99761941dup, NC_000014.8:g.100228274_100228278del, NC_000014.8:g.100228275_100228278del, NC_000014.8:g.100228276_100228278del, NC_000014.8:g.100228277_100228278del, NC_000014.8:g.100228278del, NC_000014.8:g.100228278dup, NC_000014.8:g.100228277_100228278dup, NC_000014.8:g.100228276_100228278dup, NC_000014.8:g.100228275_100228278dup, NG_052827.1:g.29239_29243del, NG_052827.1:g.29240_29243del, NG_052827.1:g.29241_29243del, NG_052827.1:g.29242_29243del, NG_052827.1:g.29243del, NG_052827.1:g.29243dup, NG_052827.1:g.29242_29243dup, NG_052827.1:g.29241_29243dup, NG_052827.1:g.29240_29243dup

Select item 149134340317.

rs1491343403 has merged into rs35306819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 14:99837003 (GRCh38)
14:100303340 (GRCh37)
Canonical SPDI:: NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:99836991:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3448/1727 (1000Genomes)
HGVS:: NC_000014.9:g.99837003_99837006del, NC_000014.9:g.99837005_99837006del, NC_000014.9:g.99837006del, NC_000014.9:g.99837006dup, NC_000014.9:g.99837005_99837006dup, NC_000014.9:g.99837004_99837006dup, NC_000014.9:g.99837003_99837006dup, NC_000014.9:g.99837002_99837006dup, NC_000014.8:g.100303340_100303343del, NC_000014.8:g.100303342_100303343del, NC_000014.8:g.100303343del, NC_000014.8:g.100303343dup, NC_000014.8:g.100303342_100303343dup, NC_000014.8:g.100303341_100303343dup, NC_000014.8:g.100303340_100303343dup, NC_000014.8:g.100303339_100303343dup, NG_052827.1:g.104305_104308del, NG_052827.1:g.104307_104308del, NG_052827.1:g.104308del, NG_052827.1:g.104308dup, NG_052827.1:g.104307_104308dup, NG_052827.1:g.104306_104308dup, NG_052827.1:g.104305_104308dup, NG_052827.1:g.104304_104308dup

Select item 149134198218.

rs1491341982 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:99836992 (GRCh38)
14:100303330 (GRCh37)
Canonical SPDI:: NC_000014.9:99836992::A
Gene:: EML1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000055/3 (GnomAD)
HGVS:: NC_000014.9:g.99836992_99836993insA, NC_000014.8:g.100303329_100303330insA, NG_052827.1:g.104294_104295insA

Select item 149129329819.

rs1491293298 has merged into rs58436439 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 14:99899726 (GRCh38)
14:100366063 (GRCh37)
Canonical SPDI:: NC_000014.9:99899714:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:99899714:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:99899714:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.443466/117381 (TOPMED)
T=0.44369/2222 (1000Genomes)
T=0.45/18 (GENOME_DK)
-=0.458333/275 (NorthernSweden)
T=0.468886/859 (Korea1K)
T=0.486508/1875 (ALSPAC)
T=0.492986/492 (GoNL)
T=0.497843/1846 (TWINSUK)
HGVS:: NC_000014.9:g.99899726_99899727del, NC_000014.9:g.99899727del, NC_000014.9:g.99899727dup, NC_000014.8:g.100366063_100366064del, NC_000014.8:g.100366064del, NC_000014.8:g.100366064dup, NG_052827.1:g.167028_167029del, NG_052827.1:g.167029del, NG_052827.1:g.167029dup

Select item 149123597720.

rs1491235977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 14:99903786 (GRCh38)
14:100370124 (GRCh37)
Canonical SPDI:: NC_000014.9:99903786:TT:TTCTT
Gene:: EML1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.99903788_99903789insCTT, NC_000014.8:g.100370125_100370126insCTT, NG_052827.1:g.171090_171091insCTT

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