SNP Links for Gene (Select 161436) - SNP

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Select item 14915724351.

rs1491572435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:88651554 (GRCh38)
14:89117899 (GRCh37)
Canonical SPDI:: NC_000014.9:88651554:AAAAAA:AAAAAAA
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000084/1 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000014.9:g.88651560dup, NC_000014.8:g.89117904dup

Select item 14915686912.

rs1491568691 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:88713841 (GRCh38)
14:89180186 (GRCh37)
Canonical SPDI:: NC_000014.9:88713841::C
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00169/20 (ALFA)
C=0.00822/216 (GnomAD)
HGVS:: NC_000014.9:g.88713841_88713842insC, NC_000014.8:g.89180185_89180186insC

Select item 14915220403.

rs1491522040 has merged into rs1460014479 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 14:88718767 (GRCh38)
14:89185111 (GRCh37)
Canonical SPDI:: NC_000014.9:88718759:AGAGAGAGAGA:AGAGAGA,NC_000014.9:88718759:AGAGAGAGAGA:AGAGAGAGA,NC_000014.9:88718759:AGAGAGAGAGA:AGAGAGAGAGAGA
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
AG=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.88718761GA[3], NC_000014.9:g.88718761GA[4], NC_000014.9:g.88718761GA[6], NC_000014.8:g.89185105GA[3], NC_000014.8:g.89185105GA[4], NC_000014.8:g.89185105GA[6]

Select item 14914576084.

rs1491457608 has merged into rs71127000 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:88662349 (GRCh38)
14:89128693 (GRCh37)
Canonical SPDI:: NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88662339:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EML5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.88662349_88662366del, NC_000014.9:g.88662352_88662366del, NC_000014.9:g.88662353_88662366del, NC_000014.9:g.88662354_88662366del, NC_000014.9:g.88662355_88662366del, NC_000014.9:g.88662356_88662366del, NC_000014.9:g.88662357_88662366del, NC_000014.9:g.88662358_88662366del, NC_000014.9:g.88662359_88662366del, NC_000014.9:g.88662360_88662366del, NC_000014.9:g.88662361_88662366del, NC_000014.9:g.88662362_88662366del, NC_000014.9:g.88662363_88662366del, NC_000014.9:g.88662364_88662366del, NC_000014.9:g.88662365_88662366del, NC_000014.9:g.88662366del, NC_000014.9:g.88662366dup, NC_000014.9:g.88662365_88662366dup, NC_000014.9:g.88662364_88662366dup, NC_000014.9:g.88662363_88662366dup, NC_000014.9:g.88662362_88662366dup, NC_000014.9:g.88662361_88662366dup, NC_000014.9:g.88662360_88662366dup, NC_000014.9:g.88662359_88662366dup, NC_000014.9:g.88662358_88662366dup, NC_000014.9:g.88662357_88662366dup, NC_000014.9:g.88662356_88662366dup, NC_000014.8:g.89128693_89128710del, NC_000014.8:g.89128696_89128710del, NC_000014.8:g.89128697_89128710del, NC_000014.8:g.89128698_89128710del, NC_000014.8:g.89128699_89128710del, NC_000014.8:g.89128700_89128710del, NC_000014.8:g.89128701_89128710del, NC_000014.8:g.89128702_89128710del, NC_000014.8:g.89128703_89128710del, NC_000014.8:g.89128704_89128710del, NC_000014.8:g.89128705_89128710del, NC_000014.8:g.89128706_89128710del, NC_000014.8:g.89128707_89128710del, NC_000014.8:g.89128708_89128710del, NC_000014.8:g.89128709_89128710del, NC_000014.8:g.89128710del, NC_000014.8:g.89128710dup, NC_000014.8:g.89128709_89128710dup, NC_000014.8:g.89128708_89128710dup, NC_000014.8:g.89128707_89128710dup, NC_000014.8:g.89128706_89128710dup, NC_000014.8:g.89128705_89128710dup, NC_000014.8:g.89128704_89128710dup, NC_000014.8:g.89128703_89128710dup, NC_000014.8:g.89128702_89128710dup, NC_000014.8:g.89128701_89128710dup, NC_000014.8:g.89128700_89128710dup

Select item 14914398365.

rs1491439836 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 14:88662340 (GRCh38)
14:89128685 (GRCh37)
Canonical SPDI:: NC_000014.9:88662340:TT:TTGTT
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTT=0.00396/47 (ALFA)
TTG=0.01735/379 (GnomAD)
HGVS:: NC_000014.9:g.88662342_88662343insGTT, NC_000014.8:g.89128686_89128687insGTT

Select item 14913740106.

rs1491374010 has merged into rs140688839 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 14:88729096 (GRCh38)
14:89195440 (GRCh37)
Canonical SPDI:: NC_000014.9:88729088:ATATATATATATA:ATATATA,NC_000014.9:88729088:ATATATATATATA:ATATATATATA,NC_000014.9:88729088:ATATATATATATA:ATATATATATATATA,NC_000014.9:88729088:ATATATATATATA:ATATATATATATATATA
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
AT=0.21833/131 (NorthernSweden)
AT=0.225/9 (GENOME_DK)
AT=0.25599/1282 (1000Genomes)
AT=0.25804/1156 (Estonian)
AT=0.27555/275 (GoNL)
AT=0.36354/666 (Korea1K)
HGVS:: NC_000014.9:g.88729090TA[3], NC_000014.9:g.88729090TA[5], NC_000014.9:g.88729090TA[7], NC_000014.9:g.88729090TA[8], NC_000014.8:g.89195434TA[3], NC_000014.8:g.89195434TA[5], NC_000014.8:g.89195434TA[7], NC_000014.8:g.89195434TA[8]

Select item 14913522257.

rs1491352225 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:88736004 (GRCh38)
14:89202349 (GRCh37)
Canonical SPDI:: NC_000014.9:88736004::A
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000014.9:g.88736004_88736005insA, NC_000014.8:g.89202348_89202349insA

Select item 14913413728.

rs1491341372 has merged into rs538196237 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 14:88738426 (GRCh38)
14:89204770 (GRCh37)
Canonical SPDI:: NC_000014.9:88738417:AAAAAAAAAAAA:AAAAAAAA,NC_000014.9:88738417:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:88738417:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:88738417:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:88738417:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.00037/4 (ALFA)
A=0.24754/954 (ALSPAC)
A=0.24784/919 (TWINSUK)
A=0.26178/1311 (1000Genomes)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000014.9:g.88738426_88738429del, NC_000014.9:g.88738428_88738429del, NC_000014.9:g.88738429del, NC_000014.9:g.88738429dup, NC_000014.9:g.88738428_88738429dup, NC_000014.8:g.89204770_89204773del, NC_000014.8:g.89204772_89204773del, NC_000014.8:g.89204773del, NC_000014.8:g.89204773dup, NC_000014.8:g.89204772_89204773dup

Select item 14913217809.

rs1491321780 has merged into rs33988759 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:88713853 (GRCh38)
14:89180197 (GRCh37)
Canonical SPDI:: NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:88713840:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.88713853_88713856del, NC_000014.9:g.88713854_88713856del, NC_000014.9:g.88713855_88713856del, NC_000014.9:g.88713856del, NC_000014.9:g.88713856dup, NC_000014.9:g.88713855_88713856dup, NC_000014.9:g.88713854_88713856dup, NC_000014.9:g.88713853_88713856dup, NC_000014.9:g.88713848_88713856dup, NC_000014.9:g.88713856_88713857insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.89180197_89180200del, NC_000014.8:g.89180198_89180200del, NC_000014.8:g.89180199_89180200del, NC_000014.8:g.89180200del, NC_000014.8:g.89180200dup, NC_000014.8:g.89180199_89180200dup, NC_000014.8:g.89180198_89180200dup, NC_000014.8:g.89180197_89180200dup, NC_000014.8:g.89180192_89180200dup, NC_000014.8:g.89180200_89180201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128608310.

rs1491286083 has merged into rs1555370057 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:88745185 (GRCh38)
14:89211529 (GRCh37)
Canonical SPDI:: NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:88745167:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.88745169GT[8], NC_000014.9:g.88745169GT[9], NC_000014.9:g.88745169GT[10], NC_000014.9:g.88745169GT[11], NC_000014.9:g.88745169GT[12], NC_000014.9:g.88745169GT[13], NC_000014.9:g.88745169GT[14], NC_000014.9:g.88745169GT[16], NC_000014.9:g.88745169GT[17], NC_000014.9:g.88745169GT[18], NC_000014.9:g.88745169GT[19], NC_000014.9:g.88745169GT[20], NC_000014.9:g.88745169GT[21], NC_000014.9:g.88745169GT[22], NC_000014.9:g.88745169GT[24], NC_000014.9:g.88745169GT[25], NC_000014.8:g.89211513GT[8], NC_000014.8:g.89211513GT[9], NC_000014.8:g.89211513GT[10], NC_000014.8:g.89211513GT[11], NC_000014.8:g.89211513GT[12], NC_000014.8:g.89211513GT[13], NC_000014.8:g.89211513GT[14], NC_000014.8:g.89211513GT[16], NC_000014.8:g.89211513GT[17], NC_000014.8:g.89211513GT[18], NC_000014.8:g.89211513GT[19], NC_000014.8:g.89211513GT[20], NC_000014.8:g.89211513GT[21], NC_000014.8:g.89211513GT[22], NC_000014.8:g.89211513GT[24], NC_000014.8:g.89211513GT[25]

Select item 149127366811.

rs1491273668 has merged into rs58701181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 14:88716749 (GRCh38)
14:89183093 (GRCh37)
Canonical SPDI:: NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:88716732:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000014.9:g.88716733AC[8], NC_000014.9:g.88716733AC[9], NC_000014.9:g.88716733AC[10], NC_000014.9:g.88716733AC[11], NC_000014.9:g.88716733AC[12], NC_000014.9:g.88716733AC[13], NC_000014.9:g.88716733AC[14], NC_000014.9:g.88716733AC[15], NC_000014.9:g.88716733AC[17], NC_000014.9:g.88716733AC[18], NC_000014.9:g.88716733AC[19], NC_000014.9:g.88716733AC[20], NC_000014.9:g.88716733AC[21], NC_000014.9:g.88716733AC[22], NC_000014.9:g.88716733AC[24], NC_000014.9:g.88716733AC[25], NC_000014.9:g.88716733AC[26], NC_000014.9:g.88716733AC[27], NC_000014.8:g.89183077AC[8], NC_000014.8:g.89183077AC[9], NC_000014.8:g.89183077AC[10], NC_000014.8:g.89183077AC[11], NC_000014.8:g.89183077AC[12], NC_000014.8:g.89183077AC[13], NC_000014.8:g.89183077AC[14], NC_000014.8:g.89183077AC[15], NC_000014.8:g.89183077AC[17], NC_000014.8:g.89183077AC[18], NC_000014.8:g.89183077AC[19], NC_000014.8:g.89183077AC[20], NC_000014.8:g.89183077AC[21], NC_000014.8:g.89183077AC[22], NC_000014.8:g.89183077AC[24], NC_000014.8:g.89183077AC[25], NC_000014.8:g.89183077AC[26], NC_000014.8:g.89183077AC[27]

Select item 149125366912.

rs1491253669 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:88718759 (GRCh38)
14:89185103 (GRCh37)
Canonical SPDI:: NC_000014.9:88718758:AA:
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.88718759_88718760del, NC_000014.8:g.89185103_89185104del

Select item 149125243513.

rs1491252435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:88664263 (GRCh38)
14:89130607 (GRCh37)
Canonical SPDI:: NC_000014.9:88664261:GTG:G
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.88664263_88664264del, NC_000014.8:g.89130607_89130608del

Select item 149118028514.

rs1491180285 has merged into rs11321542 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:88736015 (GRCh38)
14:89202359 (GRCh37)
Canonical SPDI:: NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:88736003:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.88736015_88736019del, NC_000014.9:g.88736016_88736019del, NC_000014.9:g.88736017_88736019del, NC_000014.9:g.88736018_88736019del, NC_000014.9:g.88736019del, NC_000014.9:g.88736019dup, NC_000014.9:g.88736018_88736019dup, NC_000014.9:g.88736011_88736019dup, NC_000014.8:g.89202359_89202363del, NC_000014.8:g.89202360_89202363del, NC_000014.8:g.89202361_89202363del, NC_000014.8:g.89202362_89202363del, NC_000014.8:g.89202363del, NC_000014.8:g.89202363dup, NC_000014.8:g.89202362_89202363dup, NC_000014.8:g.89202355_89202363dup

Select item 149114091615.

rs1491140916 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:88664262 (GRCh38)
14:89130607 (GRCh37)
Canonical SPDI:: NC_000014.9:88664262::C
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.88664262_88664263insC, NC_000014.8:g.89130606_89130607insC

Select item 149111704416.

rs1491117044 has merged into rs35953031 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:88620947 (GRCh38)
14:89087291 (GRCh37)
Canonical SPDI:: NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:88620934:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZC3H14 (Varview), EML5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/2 (KOREAN)
HGVS:: NC_000014.9:g.88620947_88620951del, NC_000014.9:g.88620948_88620951del, NC_000014.9:g.88620949_88620951del, NC_000014.9:g.88620950_88620951del, NC_000014.9:g.88620951del, NC_000014.9:g.88620951dup, NC_000014.9:g.88620950_88620951dup, NC_000014.9:g.88620949_88620951dup, NC_000014.9:g.88620948_88620951dup, NC_000014.9:g.88620947_88620951dup, NC_000014.9:g.88620944_88620951dup, NC_000014.8:g.89087291_89087295del, NC_000014.8:g.89087292_89087295del, NC_000014.8:g.89087293_89087295del, NC_000014.8:g.89087294_89087295del, NC_000014.8:g.89087295del, NC_000014.8:g.89087295dup, NC_000014.8:g.89087294_89087295dup, NC_000014.8:g.89087293_89087295dup, NC_000014.8:g.89087292_89087295dup, NC_000014.8:g.89087291_89087295dup, NC_000014.8:g.89087288_89087295dup, NM_024824.5:c.*9196_*9200del, NM_024824.5:c.*9197_*9200del, NM_024824.5:c.*9198_*9200del, NM_024824.5:c.*9199_*9200del, NM_024824.5:c.*9200del, NM_024824.5:c.*9200dup, NM_024824.5:c.*9199_*9200dup, NM_024824.5:c.*9198_*9200dup, NM_024824.5:c.*9197_*9200dup, NM_024824.5:c.*9196_*9200dup, NM_024824.5:c.*9193_*9200dup, NM_207660.4:c.*9196_*9200del, NM_207660.4:c.*9197_*9200del, NM_207660.4:c.*9198_*9200del, NM_207660.4:c.*9199_*9200del, NM_207660.4:c.*9200del, NM_207660.4:c.*9200dup, NM_207660.4:c.*9199_*9200dup, NM_207660.4:c.*9198_*9200dup, NM_207660.4:c.*9197_*9200dup, NM_207660.4:c.*9196_*9200dup, NM_207660.4:c.*9193_*9200dup, NM_207662.4:c.*9196_*9200del, NM_207662.4:c.*9197_*9200del, NM_207662.4:c.*9198_*9200del, NM_207662.4:c.*9199_*9200del, NM_207662.4:c.*9200del, NM_207662.4:c.*9200dup, NM_207662.4:c.*9199_*9200dup, NM_207662.4:c.*9198_*9200dup, NM_207662.4:c.*9197_*9200dup, NM_207662.4:c.*9196_*9200dup, NM_207662.4:c.*9193_*9200dup, NM_207661.3:c.*9196_*9200del, NM_207661.3:c.*9197_*9200del, NM_207661.3:c.*9198_*9200del, NM_207661.3:c.*9199_*9200del, NM_207661.3:c.*9200del, NM_207661.3:c.*9200dup, NM_207661.3:c.*9199_*9200dup, NM_207661.3:c.*9198_*9200dup, NM_207661.3:c.*9197_*9200dup, NM_207661.3:c.*9196_*9200dup, NM_207661.3:c.*9193_*9200dup, NM_001326297.2:c.*9196_*9200del, NM_001326297.2:c.*9197_*9200del, NM_001326297.2:c.*9198_*9200del, NM_001326297.2:c.*9199_*9200del, NM_001326297.2:c.*9200del, NM_001326297.2:c.*9200dup, NM_001326297.2:c.*9199_*9200dup, NM_001326297.2:c.*9198_*9200dup, NM_001326297.2:c.*9197_*9200dup, NM_001326297.2:c.*9196_*9200dup, NM_001326297.2:c.*9193_*9200dup, NM_001326315.2:c.*9196_*9200del, NM_001326315.2:c.*9197_*9200del, NM_001326315.2:c.*9198_*9200del, NM_001326315.2:c.*9199_*9200del, NM_001326315.2:c.*9200del, NM_001326315.2:c.*9200dup, NM_001326315.2:c.*9199_*9200dup, NM_001326315.2:c.*9198_*9200dup, NM_001326315.2:c.*9197_*9200dup, NM_001326315.2:c.*9196_*9200dup, NM_001326315.2:c.*9193_*9200dup, NM_001326301.2:c.*9196_*9200del, NM_001326301.2:c.*9197_*9200del, NM_001326301.2:c.*9198_*9200del, NM_001326301.2:c.*9199_*9200del, NM_001326301.2:c.*9200del, NM_001326301.2:c.*9200dup, NM_001326301.2:c.*9199_*9200dup, NM_001326301.2:c.*9198_*9200dup, NM_001326301.2:c.*9197_*9200dup, NM_001326301.2:c.*9196_*9200dup, NM_001326301.2:c.*9193_*9200dup, NM_001160103.2:c.*9196_*9200del, NM_001160103.2:c.*9197_*9200del, NM_001160103.2:c.*9198_*9200del, NM_001160103.2:c.*9199_*9200del, NM_001160103.2:c.*9200del, NM_001160103.2:c.*9200dup, NM_001160103.2:c.*9199_*9200dup, NM_001160103.2:c.*9198_*9200dup, NM_001160103.2:c.*9197_*9200dup, NM_001160103.2:c.*9196_*9200dup, NM_001160103.2:c.*9193_*9200dup, NM_001326310.2:c.*9196_*9200del, NM_001326310.2:c.*9197_*9200del, NM_001326310.2:c.*9198_*9200del, NM_001326310.2:c.*9199_*9200del, NM_001326310.2:c.*9200del, NM_001326310.2:c.*9200dup, NM_001326310.2:c.*9199_*9200dup, NM_001326310.2:c.*9198_*9200dup, NM_001326310.2:c.*9197_*9200dup, NM_001326310.2:c.*9196_*9200dup, NM_001326310.2:c.*9193_*9200dup, NM_001160104.2:c.*9196_*9200del, NM_001160104.2:c.*9197_*9200del, NM_001160104.2:c.*9198_*9200del, NM_001160104.2:c.*9199_*9200del, NM_001160104.2:c.*9200del, NM_001160104.2:c.*9200dup, NM_001160104.2:c.*9199_*9200dup, NM_001160104.2:c.*9198_*9200dup, NM_001160104.2:c.*9197_*9200dup, NM_001160104.2:c.*9196_*9200dup, NM_001160104.2:c.*9193_*9200dup, NM_001326316.2:c.*9196_*9200del, NM_001326316.2:c.*9197_*9200del, NM_001326316.2:c.*9198_*9200del, NM_001326316.2:c.*9199_*9200del, NM_001326316.2:c.*9200del, NM_001326316.2:c.*9200dup, NM_001326316.2:c.*9199_*9200dup, NM_001326316.2:c.*9198_*9200dup, NM_001326316.2:c.*9197_*9200dup, NM_001326316.2:c.*9196_*9200dup, NM_001326316.2:c.*9193_*9200dup, NM_001326307.2:c.*9196_*9200del, NM_001326307.2:c.*9197_*9200del, NM_001326307.2:c.*9198_*9200del, NM_001326307.2:c.*9199_*9200del, NM_001326307.2:c.*9200del, NM_001326307.2:c.*9200dup, NM_001326307.2:c.*9199_*9200dup, NM_001326307.2:c.*9198_*9200dup, NM_001326307.2:c.*9197_*9200dup, NM_001326307.2:c.*9196_*9200dup, NM_001326307.2:c.*9193_*9200dup, NM_001326296.2:c.*9196_*9200del, NM_001326296.2:c.*9197_*9200del, NM_001326296.2:c.*9198_*9200del, NM_001326296.2:c.*9199_*9200del, NM_001326296.2:c.*9200del, NM_001326296.2:c.*9200dup, NM_001326296.2:c.*9199_*9200dup, NM_001326296.2:c.*9198_*9200dup, NM_001326296.2:c.*9197_*9200dup, NM_001326296.2:c.*9196_*9200dup, NM_001326296.2:c.*9193_*9200dup, NM_001326312.2:c.*9196_*9200del, NM_001326312.2:c.*9197_*9200del, NM_001326312.2:c.*9198_*9200del, NM_001326312.2:c.*9199_*9200del, NM_001326312.2:c.*9200del, NM_001326312.2:c.*9200dup, NM_001326312.2:c.*9199_*9200dup, NM_001326312.2:c.*9198_*9200dup, NM_001326312.2:c.*9197_*9200dup, NM_001326312.2:c.*9196_*9200dup, NM_001326312.2:c.*9193_*9200dup, NM_001326299.2:c.*9196_*9200del, NM_001326299.2:c.*9197_*9200del, NM_001326299.2:c.*9198_*9200del, NM_001326299.2:c.*9199_*9200del, NM_001326299.2:c.*9200del, NM_001326299.2:c.*9200dup, NM_001326299.2:c.*9199_*9200dup, NM_001326299.2:c.*9198_*9200dup, NM_001326299.2:c.*9197_*9200dup, NM_001326299.2:c.*9196_*9200dup, NM_001326299.2:c.*9193_*9200dup, NM_001326300.2:c.*9196_*9200del, NM_001326300.2:c.*9197_*9200del, NM_001326300.2:c.*9198_*9200del, NM_001326300.2:c.*9199_*9200del, NM_001326300.2:c.*9200del, NM_001326300.2:c.*9200dup, NM_001326300.2:c.*9199_*9200dup, NM_001326300.2:c.*9198_*9200dup, NM_001326300.2:c.*9197_*9200dup, NM_001326300.2:c.*9196_*9200dup, NM_001326300.2:c.*9193_*9200dup, NM_001326302.2:c.*9196_*9200del, NM_001326302.2:c.*9197_*9200del, NM_001326302.2:c.*9198_*9200del, NM_001326302.2:c.*9199_*9200del, NM_001326302.2:c.*9200del, NM_001326302.2:c.*9200dup, NM_001326302.2:c.*9199_*9200dup, NM_001326302.2:c.*9198_*9200dup, NM_001326302.2:c.*9197_*9200dup, NM_001326302.2:c.*9196_*9200dup, NM_001326302.2:c.*9193_*9200dup, NR_136936.2:n.11344_11348del, NR_136936.2:n.11345_11348del, NR_136936.2:n.11346_11348del, NR_136936.2:n.11347_11348del, NR_136936.2:n.11348del, NR_136936.2:n.11348dup, NR_136936.2:n.11347_11348dup, NR_136936.2:n.11346_11348dup, NR_136936.2:n.11345_11348dup, NR_136936.2:n.11344_11348dup, NR_136936.2:n.11341_11348dup, NM_001326305.2:c.*9196_*9200del, NM_001326305.2:c.*9197_*9200del, NM_001326305.2:c.*9198_*9200del, NM_001326305.2:c.*9199_*9200del, NM_001326305.2:c.*9200del, NM_001326305.2:c.*9200dup, NM_001326305.2:c.*9199_*9200dup, NM_001326305.2:c.*9198_*9200dup, NM_001326305.2:c.*9197_*9200dup, NM_001326305.2:c.*9196_*9200dup, NM_001326305.2:c.*9193_*9200dup, NM_001326314.2:c.*9196_*9200del, NM_001326314.2:c.*9197_*9200del, NM_001326314.2:c.*9198_*9200del, NM_001326314.2:c.*9199_*9200del, NM_001326314.2:c.*9200del, NM_001326314.2:c.*9200dup, NM_001326314.2:c.*9199_*9200dup, NM_001326314.2:c.*9198_*9200dup, NM_001326314.2:c.*9197_*9200dup, NM_001326314.2:c.*9196_*9200dup, NM_001326314.2:c.*9193_*9200dup, NM_001326303.2:c.*9196_*9200del, NM_001326303.2:c.*9197_*9200del, NM_001326303.2:c.*9198_*9200del, NM_001326303.2:c.*9199_*9200del, NM_001326303.2:c.*9200del, NM_001326303.2:c.*9200dup, NM_001326303.2:c.*9199_*9200dup, NM_001326303.2:c.*9198_*9200dup, NM_001326303.2:c.*9197_*9200dup, NM_001326303.2:c.*9196_*9200dup, NM_001326303.2:c.*9193_*9200dup, NM_001326295.2:c.*9196_*9200del, NM_001326295.2:c.*9197_*9200del, NM_001326295.2:c.*9198_*9200del, NM_001326295.2:c.*9199_*9200del, NM_001326295.2:c.*9200del, NM_001326295.2:c.*9200dup, NM_001326295.2:c.*9199_*9200dup, NM_001326295.2:c.*9198_*9200dup, NM_001326295.2:c.*9197_*9200dup, NM_001326295.2:c.*9196_*9200dup, NM_001326295.2:c.*9193_*9200dup, NM_001326298.2:c.*9196_*9200del, NM_001326298.2:c.*9197_*9200del, NM_001326298.2:c.*9198_*9200del, NM_001326298.2:c.*9199_*9200del, NM_001326298.2:c.*9200del, NM_001326298.2:c.*9200dup, NM_001326298.2:c.*9199_*9200dup, NM_001326298.2:c.*9198_*9200dup, NM_001326298.2:c.*9197_*9200dup, NM_001326298.2:c.*9196_*9200dup, NM_001326298.2:c.*9193_*9200dup, NM_001326308.2:c.*9196_*9200del, NM_001326308.2:c.*9197_*9200del, NM_001326308.2:c.*9198_*9200del, NM_001326308.2:c.*9199_*9200del, NM_001326308.2:c.*9200del, NM_001326308.2:c.*9200dup, NM_001326308.2:c.*9199_*9200dup, NM_001326308.2:c.*9198_*9200dup, NM_001326308.2:c.*9197_*9200dup, NM_001326308.2:c.*9196_*9200dup, NM_001326308.2:c.*9193_*9200dup, NM_001326304.2:c.*9196_*9200del, NM_001326304.2:c.*9197_*9200del, NM_001326304.2:c.*9198_*9200del, NM_001326304.2:c.*9199_*9200del, NM_001326304.2:c.*9200del, NM_001326304.2:c.*9200dup, NM_001326304.2:c.*9199_*9200dup, NM_001326304.2:c.*9198_*9200dup, NM_001326304.2:c.*9197_*9200dup, NM_001326304.2:c.*9196_*9200dup, NM_001326304.2:c.*9193_*9200dup, NM_001326309.2:c.*9196_*9200del, NM_001326309.2:c.*9197_*9200del, NM_001326309.2:c.*9198_*9200del, NM_001326309.2:c.*9199_*9200del, NM_001326309.2:c.*9200del, NM_001326309.2:c.*9200dup, NM_001326309.2:c.*9199_*9200dup, NM_001326309.2:c.*9198_*9200dup, NM_001326309.2:c.*9197_*9200dup, NM_001326309.2:c.*9196_*9200dup, NM_001326309.2:c.*9193_*9200dup, NM_001326311.2:c.*9196_*9200del, NM_001326311.2:c.*9197_*9200del, NM_001326311.2:c.*9198_*9200del, NM_001326311.2:c.*9199_*9200del, NM_001326311.2:c.*9200del, NM_001326311.2:c.*9200dup, NM_001326311.2:c.*9199_*9200dup, NM_001326311.2:c.*9198_*9200dup, NM_001326311.2:c.*9197_*9200dup, NM_001326311.2:c.*9196_*9200dup, NM_001326311.2:c.*9193_*9200dup, NM_001326313.2:c.*9196_*9200del, NM_001326313.2:c.*9197_*9200del, NM_001326313.2:c.*9198_*9200del, NM_001326313.2:c.*9199_*9200del, NM_001326313.2:c.*9200del, NM_001326313.2:c.*9200dup, NM_001326313.2:c.*9199_*9200dup, NM_001326313.2:c.*9198_*9200dup, NM_001326313.2:c.*9197_*9200dup, NM_001326313.2:c.*9196_*9200dup, NM_001326313.2:c.*9193_*9200dup, NM_001326306.2:c.*9196_*9200del, NM_001326306.2:c.*9197_*9200del, NM_001326306.2:c.*9198_*9200del, NM_001326306.2:c.*9199_*9200del, NM_001326306.2:c.*9200del, NM_001326306.2:c.*9200dup, NM_001326306.2:c.*9199_*9200dup, NM_001326306.2:c.*9198_*9200dup, NM_001326306.2:c.*9197_*9200dup, NM_001326306.2:c.*9196_*9200dup, NM_001326306.2:c.*9193_*9200dup

Select item 149110236417.

rs1491102364 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:88648874 (GRCh38)
14:89115218 (GRCh37)
Canonical SPDI:: NC_000014.9:88648871:ATAT:AT
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.88648872AT[1], NC_000014.8:g.89115216AT[1]

Select item 149105191518.

rs1491051915 has merged into rs79797316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 14:88769978 (GRCh38)
14:89236322 (GRCh37)
Canonical SPDI:: NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:88769966:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: EML5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.00321/12 (1000Genomes)
T=0.14883/89 (NorthernSweden)
HGVS:: NC_000014.9:g.88769978_88769981del, NC_000014.9:g.88769979_88769981del, NC_000014.9:g.88769980_88769981del, NC_000014.9:g.88769981del, NC_000014.9:g.88769981dup, NC_000014.9:g.88769980_88769981dup, NC_000014.9:g.88769979_88769981dup, NC_000014.9:g.88769978_88769981dup, NC_000014.9:g.88769977_88769981dup, NC_000014.8:g.89236322_89236325del, NC_000014.8:g.89236323_89236325del, NC_000014.8:g.89236324_89236325del, NC_000014.8:g.89236325del, NC_000014.8:g.89236325dup, NC_000014.8:g.89236324_89236325dup, NC_000014.8:g.89236323_89236325dup, NC_000014.8:g.89236322_89236325dup, NC_000014.8:g.89236321_89236325dup

Select item 149103553719.

rs1491035537 has merged into rs33958046 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 14:88623028 (GRCh38)
14:89089372 (GRCh37)
Canonical SPDI:: NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:88623017:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ZC3H14 (Varview), EML5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4756/2382 (1000Genomes)
HGVS:: NC_000014.9:g.88623028_88623033del, NC_000014.9:g.88623030_88623033del, NC_000014.9:g.88623032_88623033del, NC_000014.9:g.88623033del, NC_000014.9:g.88623033dup, NC_000014.9:g.88623032_88623033dup, NC_000014.9:g.88623031_88623033dup, NC_000014.9:g.88623030_88623033dup, NC_000014.8:g.89089372_89089377del, NC_000014.8:g.89089374_89089377del, NC_000014.8:g.89089376_89089377del, NC_000014.8:g.89089377del, NC_000014.8:g.89089377dup, NC_000014.8:g.89089376_89089377dup, NC_000014.8:g.89089375_89089377dup, NC_000014.8:g.89089374_89089377dup, NM_024824.5:c.*11277_*11282del, NM_024824.5:c.*11279_*11282del, NM_024824.5:c.*11281_*11282del, NM_024824.5:c.*11282del, NM_024824.5:c.*11282dup, NM_024824.5:c.*11281_*11282dup, NM_024824.5:c.*11280_*11282dup, NM_024824.5:c.*11279_*11282dup, NM_207660.4:c.*11277_*11282del, NM_207660.4:c.*11279_*11282del, NM_207660.4:c.*11281_*11282del, NM_207660.4:c.*11282del, NM_207660.4:c.*11282dup, NM_207660.4:c.*11281_*11282dup, NM_207660.4:c.*11280_*11282dup, NM_207660.4:c.*11279_*11282dup, NM_207662.4:c.*11277_*11282del, NM_207662.4:c.*11279_*11282del, NM_207662.4:c.*11281_*11282del, NM_207662.4:c.*11282del, NM_207662.4:c.*11282dup, NM_207662.4:c.*11281_*11282dup, NM_207662.4:c.*11280_*11282dup, NM_207662.4:c.*11279_*11282dup, NM_207661.3:c.*11277_*11282del, NM_207661.3:c.*11279_*11282del, NM_207661.3:c.*11281_*11282del, NM_207661.3:c.*11282del, NM_207661.3:c.*11282dup, NM_207661.3:c.*11281_*11282dup, NM_207661.3:c.*11280_*11282dup, NM_207661.3:c.*11279_*11282dup, NM_001326297.2:c.*11277_*11282del, NM_001326297.2:c.*11279_*11282del, NM_001326297.2:c.*11281_*11282del, NM_001326297.2:c.*11282del, NM_001326297.2:c.*11282dup, NM_001326297.2:c.*11281_*11282dup, NM_001326297.2:c.*11280_*11282dup, NM_001326297.2:c.*11279_*11282dup, NM_001326315.2:c.*11277_*11282del, NM_001326315.2:c.*11279_*11282del, NM_001326315.2:c.*11281_*11282del, NM_001326315.2:c.*11282del, NM_001326315.2:c.*11282dup, NM_001326315.2:c.*11281_*11282dup, NM_001326315.2:c.*11280_*11282dup, NM_001326315.2:c.*11279_*11282dup, NM_001326301.2:c.*11277_*11282del, NM_001326301.2:c.*11279_*11282del, NM_001326301.2:c.*11281_*11282del, NM_001326301.2:c.*11282del, NM_001326301.2:c.*11282dup, NM_001326301.2:c.*11281_*11282dup, NM_001326301.2:c.*11280_*11282dup, NM_001326301.2:c.*11279_*11282dup, NM_001160103.2:c.*11277_*11282del, NM_001160103.2:c.*11279_*11282del, NM_001160103.2:c.*11281_*11282del, NM_001160103.2:c.*11282del, NM_001160103.2:c.*11282dup, NM_001160103.2:c.*11281_*11282dup, NM_001160103.2:c.*11280_*11282dup, NM_001160103.2:c.*11279_*11282dup, NM_001326310.2:c.*11277_*11282del, NM_001326310.2:c.*11279_*11282del, NM_001326310.2:c.*11281_*11282del, NM_001326310.2:c.*11282del, NM_001326310.2:c.*11282dup, NM_001326310.2:c.*11281_*11282dup, NM_001326310.2:c.*11280_*11282dup, NM_001326310.2:c.*11279_*11282dup, NM_001160104.2:c.*11277_*11282del, NM_001160104.2:c.*11279_*11282del, NM_001160104.2:c.*11281_*11282del, NM_001160104.2:c.*11282del, NM_001160104.2:c.*11282dup, NM_001160104.2:c.*11281_*11282dup, NM_001160104.2:c.*11280_*11282dup, NM_001160104.2:c.*11279_*11282dup, NM_001326316.2:c.*11277_*11282del, NM_001326316.2:c.*11279_*11282del, NM_001326316.2:c.*11281_*11282del, NM_001326316.2:c.*11282del, NM_001326316.2:c.*11282dup, NM_001326316.2:c.*11281_*11282dup, NM_001326316.2:c.*11280_*11282dup, NM_001326316.2:c.*11279_*11282dup, NM_001326307.2:c.*11277_*11282del, NM_001326307.2:c.*11279_*11282del, NM_001326307.2:c.*11281_*11282del, NM_001326307.2:c.*11282del, NM_001326307.2:c.*11282dup, NM_001326307.2:c.*11281_*11282dup, NM_001326307.2:c.*11280_*11282dup, NM_001326307.2:c.*11279_*11282dup, NM_001326296.2:c.*11277_*11282del, NM_001326296.2:c.*11279_*11282del, NM_001326296.2:c.*11281_*11282del, NM_001326296.2:c.*11282del, NM_001326296.2:c.*11282dup, NM_001326296.2:c.*11281_*11282dup, NM_001326296.2:c.*11280_*11282dup, NM_001326296.2:c.*11279_*11282dup, NM_001326312.2:c.*11277_*11282del, NM_001326312.2:c.*11279_*11282del, NM_001326312.2:c.*11281_*11282del, NM_001326312.2:c.*11282del, NM_001326312.2:c.*11282dup, NM_001326312.2:c.*11281_*11282dup, NM_001326312.2:c.*11280_*11282dup, NM_001326312.2:c.*11279_*11282dup, NM_001326299.2:c.*11277_*11282del, NM_001326299.2:c.*11279_*11282del, NM_001326299.2:c.*11281_*11282del, NM_001326299.2:c.*11282del, NM_001326299.2:c.*11282dup, NM_001326299.2:c.*11281_*11282dup, NM_001326299.2:c.*11280_*11282dup, NM_001326299.2:c.*11279_*11282dup, NM_001326300.2:c.*11277_*11282del, NM_001326300.2:c.*11279_*11282del, NM_001326300.2:c.*11281_*11282del, NM_001326300.2:c.*11282del, NM_001326300.2:c.*11282dup, NM_001326300.2:c.*11281_*11282dup, NM_001326300.2:c.*11280_*11282dup, NM_001326300.2:c.*11279_*11282dup, NM_001326302.2:c.*11277_*11282del, NM_001326302.2:c.*11279_*11282del, NM_001326302.2:c.*11281_*11282del, NM_001326302.2:c.*11282del, NM_001326302.2:c.*11282dup, NM_001326302.2:c.*11281_*11282dup, NM_001326302.2:c.*11280_*11282dup, NM_001326302.2:c.*11279_*11282dup, NR_136936.2:n.13425_13430del, NR_136936.2:n.13427_13430del, NR_136936.2:n.13429_13430del, NR_136936.2:n.13430del, NR_136936.2:n.13430dup, NR_136936.2:n.13429_13430dup, NR_136936.2:n.13428_13430dup, NR_136936.2:n.13427_13430dup, NM_001326305.2:c.*11277_*11282del, NM_001326305.2:c.*11279_*11282del, NM_001326305.2:c.*11281_*11282del, NM_001326305.2:c.*11282del, NM_001326305.2:c.*11282dup, NM_001326305.2:c.*11281_*11282dup, NM_001326305.2:c.*11280_*11282dup, NM_001326305.2:c.*11279_*11282dup, NM_001326314.2:c.*11277_*11282del, NM_001326314.2:c.*11279_*11282del, NM_001326314.2:c.*11281_*11282del, NM_001326314.2:c.*11282del, NM_001326314.2:c.*11282dup, NM_001326314.2:c.*11281_*11282dup, NM_001326314.2:c.*11280_*11282dup, NM_001326314.2:c.*11279_*11282dup, NM_001326303.2:c.*11277_*11282del, NM_001326303.2:c.*11279_*11282del, NM_001326303.2:c.*11281_*11282del, NM_001326303.2:c.*11282del, NM_001326303.2:c.*11282dup, NM_001326303.2:c.*11281_*11282dup, NM_001326303.2:c.*11280_*11282dup, NM_001326303.2:c.*11279_*11282dup, NM_001326295.2:c.*11277_*11282del, NM_001326295.2:c.*11279_*11282del, NM_001326295.2:c.*11281_*11282del, NM_001326295.2:c.*11282del, NM_001326295.2:c.*11282dup, NM_001326295.2:c.*11281_*11282dup, NM_001326295.2:c.*11280_*11282dup, NM_001326295.2:c.*11279_*11282dup, NM_001326298.2:c.*11277_*11282del, NM_001326298.2:c.*11279_*11282del, NM_001326298.2:c.*11281_*11282del, NM_001326298.2:c.*11282del, NM_001326298.2:c.*11282dup, NM_001326298.2:c.*11281_*11282dup, NM_001326298.2:c.*11280_*11282dup, NM_001326298.2:c.*11279_*11282dup, NM_001326308.2:c.*11277_*11282del, NM_001326308.2:c.*11279_*11282del, NM_001326308.2:c.*11281_*11282del, NM_001326308.2:c.*11282del, NM_001326308.2:c.*11282dup, NM_001326308.2:c.*11281_*11282dup, NM_001326308.2:c.*11280_*11282dup, NM_001326308.2:c.*11279_*11282dup, NM_001326304.2:c.*11277_*11282del, NM_001326304.2:c.*11279_*11282del, NM_001326304.2:c.*11281_*11282del, NM_001326304.2:c.*11282del, NM_001326304.2:c.*11282dup, NM_001326304.2:c.*11281_*11282dup, NM_001326304.2:c.*11280_*11282dup, NM_001326304.2:c.*11279_*11282dup, NM_001326309.2:c.*11277_*11282del, NM_001326309.2:c.*11279_*11282del, NM_001326309.2:c.*11281_*11282del, NM_001326309.2:c.*11282del, NM_001326309.2:c.*11282dup, NM_001326309.2:c.*11281_*11282dup, NM_001326309.2:c.*11280_*11282dup, NM_001326309.2:c.*11279_*11282dup, NM_001326311.2:c.*11277_*11282del, NM_001326311.2:c.*11279_*11282del, NM_001326311.2:c.*11281_*11282del, NM_001326311.2:c.*11282del, NM_001326311.2:c.*11282dup, NM_001326311.2:c.*11281_*11282dup, NM_001326311.2:c.*11280_*11282dup, NM_001326311.2:c.*11279_*11282dup, NM_001326313.2:c.*11277_*11282del, NM_001326313.2:c.*11279_*11282del, NM_001326313.2:c.*11281_*11282del, NM_001326313.2:c.*11282del, NM_001326313.2:c.*11282dup, NM_001326313.2:c.*11281_*11282dup, NM_001326313.2:c.*11280_*11282dup, NM_001326313.2:c.*11279_*11282dup, NM_001326306.2:c.*11277_*11282del, NM_001326306.2:c.*11279_*11282del, NM_001326306.2:c.*11281_*11282del, NM_001326306.2:c.*11282del, NM_001326306.2:c.*11282dup, NM_001326306.2:c.*11281_*11282dup, NM_001326306.2:c.*11280_*11282dup, NM_001326306.2:c.*11279_*11282dup

Select item 149099824720.

rs1490998247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:88791074 (GRCh38)
14:89257418 (GRCh37)
Canonical SPDI:: NC_000014.9:88791073:T:C
Gene:: EML5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.88791074T>C, NC_000014.8:g.89257418T>C

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