SNP Links for Gene (Select 2115) - SNP

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Select item 14915788351.

rs1491578835 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:13903762 (GRCh38)
7:13943387 (GRCh37)
Canonical SPDI:: NC_000007.14:13903761:CA:
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01045/124 (ALFA)
-=0.00092/26 (TOMMO)
-=0.00168/3 (Korea1K)
HGVS:: NC_000007.14:g.13903762_13903763del, NC_000007.13:g.13943387_13943388del, NG_029795.1:g.92663_92664del

Select item 14915328822.

rs1491532882 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:13988594 (GRCh38)
7:14028219 (GRCh37)
Canonical SPDI:: NC_000007.14:13988593:TG:
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00019/13 (GnomAD)
HGVS:: NC_000007.14:g.13988594_13988595del, NC_000007.13:g.14028219_14028220del, NG_029795.1:g.7831_7832del

Select item 14914663413.

rs1491466341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:13983588 (GRCh38)
7:14023213 (GRCh37)
Canonical SPDI:: NC_000007.14:13983586:TAT:T
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.13983588_13983589del, NC_000007.13:g.14023213_14023214del, NG_029795.1:g.12838_12839del

Select item 14914511134.

rs1491451113 has merged into rs961154132 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 7:13932044 (GRCh38)
7:13971669 (GRCh37)
Canonical SPDI:: NC_000007.14:13932042:CCC:C,NC_000007.14:13932042:CCC:CCCCC
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00019/3 (ALFA)
-=0.01031/52 (1000Genomes)
HGVS:: NC_000007.14:g.13932044_13932045del, NC_000007.14:g.13932044_13932045dup, NC_000007.13:g.13971669_13971670del, NC_000007.13:g.13971669_13971670dup, NG_029795.1:g.64382_64383del, NG_029795.1:g.64382_64383dup

Select item 14914217005.

rs1491421700 [Homo sapiens]

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

Select item 14914188686.

rs1491418868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGG [Show Flanks]
Chromosome:: 7:13983587 (GRCh38)
7:14023213 (GRCh37)
Canonical SPDI:: NC_000007.14:13983587:ATGG:ATGGATGG
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGGATGG=0./0 (ALFA)
ATGG=0.000004/1 (TOPMED)
ATGG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.13983588_13983591dup, NC_000007.13:g.14023213_14023216dup, NG_029795.1:g.12835_12838dup

Select item 14913672957.

rs1491367295 has merged into rs370489670 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:13918885 (GRCh38)
7:13958510 (GRCh37)
Canonical SPDI:: NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:13918874:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4289/2148 (1000Genomes)
HGVS:: NC_000007.14:g.13918885_13918889del, NC_000007.14:g.13918887_13918889del, NC_000007.14:g.13918888_13918889del, NC_000007.14:g.13918889del, NC_000007.14:g.13918889dup, NC_000007.14:g.13918888_13918889dup, NC_000007.14:g.13918887_13918889dup, NC_000007.14:g.13918886_13918889dup, NC_000007.14:g.13918885_13918889dup, NC_000007.14:g.13918884_13918889dup, NC_000007.14:g.13918883_13918889dup, NC_000007.14:g.13918882_13918889dup, NC_000007.14:g.13918876_13918889dup, NC_000007.13:g.13958510_13958514del, NC_000007.13:g.13958512_13958514del, NC_000007.13:g.13958513_13958514del, NC_000007.13:g.13958514del, NC_000007.13:g.13958514dup, NC_000007.13:g.13958513_13958514dup, NC_000007.13:g.13958512_13958514dup, NC_000007.13:g.13958511_13958514dup, NC_000007.13:g.13958510_13958514dup, NC_000007.13:g.13958509_13958514dup, NC_000007.13:g.13958508_13958514dup, NC_000007.13:g.13958507_13958514dup, NC_000007.13:g.13958501_13958514dup, NG_029795.1:g.77547_77551del, NG_029795.1:g.77549_77551del, NG_029795.1:g.77550_77551del, NG_029795.1:g.77551del, NG_029795.1:g.77551dup, NG_029795.1:g.77550_77551dup, NG_029795.1:g.77549_77551dup, NG_029795.1:g.77548_77551dup, NG_029795.1:g.77547_77551dup, NG_029795.1:g.77546_77551dup, NG_029795.1:g.77545_77551dup, NG_029795.1:g.77544_77551dup, NG_029795.1:g.77538_77551dup

Select item 14913500318.

rs1491350031 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,TA [Show Flanks]
Chromosome:: 7:13988594 (GRCh38)
7:14028220 (GRCh37)
Canonical SPDI:: NC_000007.14:13988594::A,NC_000007.14:13988594::TA
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.05164/314 (ALFA)
TA=0.00116/18 (TOMMO)
TA=0.00156/10 (1000Genomes)
HGVS:: NC_000007.14:g.13988594_13988595insA, NC_000007.14:g.13988594_13988595insTA, NC_000007.13:g.14028219_14028220insA, NC_000007.13:g.14028219_14028220insTA, NG_029795.1:g.7831_7832insT, NG_029795.1:g.7831_7832insTA

Select item 14912993299.

rs1491299329 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:13895423 (GRCh38)
7:13935048 (GRCh37)
Canonical SPDI:: NC_000007.14:13895422:AG:
Gene:: ETV1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.13895423_13895424del, NC_000007.13:g.13935048_13935049del, NG_029795.1:g.101002_101003del, NM_004956.5:c.*442_*443del, NM_004956.4:c.*442_*443del, NM_001163148.2:c.*442_*443del, NM_001163148.1:c.*442_*443del, NM_001163149.2:c.*442_*443del, NM_001163149.1:c.*442_*443del, NM_001163147.2:c.*442_*443del, NM_001163147.1:c.*442_*443del, NM_001163150.2:c.*442_*443del, NM_001163150.1:c.*442_*443del, NM_001163151.2:c.*442_*443del, NM_001163151.1:c.*442_*443del, NM_001163152.2:c.*442_*443del, NM_001163152.1:c.*442_*443del, NR_120445.1:n.2374_2375del, NM_001370555.1:c.*442_*443del, NM_001370556.1:c.*442_*443del, XM_011515168.4:c.*442_*443del, XM_011515168.3:c.*442_*443del, XM_011515168.2:c.*442_*443del, XM_011515168.1:c.*442_*443del, XM_011515167.4:c.*442_*443del, XM_011515167.3:c.*442_*443del, XM_011515167.2:c.*442_*443del, XM_011515167.1:c.*442_*443del, XM_011515170.4:c.*442_*443del, XM_011515170.3:c.*442_*443del, XM_011515170.2:c.*442_*443del, XM_011515170.1:c.*442_*443del, XM_024446676.2:c.*442_*443del, XM_024446676.1:c.*442_*443del, XM_047419988.1:c.*442_*443del, XM_047419986.1:c.*442_*443del, XM_047419987.1:c.*442_*443del, XM_047419985.1:c.*442_*443del

Select item 149128567010.

rs1491285670 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:13896744 (GRCh38)
7:13936369 (GRCh37)
Canonical SPDI:: NC_000007.14:13896743:GA:
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.13896744_13896745del, NC_000007.13:g.13936369_13936370del, NG_029795.1:g.99681_99682del

Select item 149127986311.

rs1491279863 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA,TA [Show Flanks]
Chromosome:: 7:13918875 (GRCh38)
7:13958501 (GRCh37)
Canonical SPDI:: NC_000007.14:13918875:A:AGA,NC_000007.14:13918875:A:ATA
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AG=0.000008/2 (TOPMED)
AT=0.000297/2 (GnomAD)
HGVS:: NC_000007.14:g.13918876_13918877insGA, NC_000007.14:g.13918876_13918877insTA, NC_000007.13:g.13958501_13958502insGA, NC_000007.13:g.13958501_13958502insTA, NG_029795.1:g.77550_77551insCT, NG_029795.1:g.77550_77551insAT

Select item 149127197512.

rs1491271975 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:13896756 (GRCh38)
7:13936381 (GRCh37)
Canonical SPDI:: NC_000007.14:13896754:AGA:A
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.13896756_13896757del, NC_000007.13:g.13936381_13936382del, NG_029795.1:g.99670_99671del

Select item 149125087913.

rs1491250879 has merged into rs1178956699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AACAAA [Show Flanks]
Chromosome:: 7:13896790 (GRCh38)
7:13936415 (GRCh37)
Canonical SPDI:: NC_000007.14:13896788:AAA:A,NC_000007.14:13896788:AAA:AAACAAA
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAA=0./0 (ALFA)
AAAC=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.13896790_13896791del, NC_000007.14:g.13896791_13896792insCAAA, NC_000007.13:g.13936415_13936416del, NC_000007.13:g.13936416_13936417insCAAA, NG_029795.1:g.99636_99637del, NG_029795.1:g.99637_99638insGTTT

Select item 149114942014.

rs1491149420 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:13896755 (GRCh38)
7:13936381 (GRCh37)
Canonical SPDI:: NC_000007.14:13896755:G:GG
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.13896756dup, NC_000007.13:g.13936381dup, NG_029795.1:g.99670dup

Select item 149114024015.

rs1491140240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAGAAAGAAAGAAAGGAAG,AAAGAAAGAAAGGAAG,AAAGAAAGGAAG,AAAGGAAG [Show Flanks]
Chromosome:: 7:13896789 (GRCh38)
7:13936415 (GRCh37)
Canonical SPDI:: NC_000007.14:13896789:AAG:AAGAAAGAAAGAAAGAAAGGAAG,NC_000007.14:13896789:AAG:AAGAAAGAAAGAAAGGAAG,NC_000007.14:13896789:AAG:AAGAAAGAAAGGAAG,NC_000007.14:13896789:AAG:AAGAAAGGAAG
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGAAAGGAAG=0./0 (ALFA)
HGVS:: NC_000007.14:g.13896790_13896792AAGA[4]AAGGAAG[1], NC_000007.14:g.13896790_13896792AAGA[3]AAGGAAG[1], NC_000007.14:g.13896790_13896792AAGA[2]AAGGAAG[1], NC_000007.14:g.13896792_13896793insAAAGGAAG, NC_000007.13:g.13936415_13936417AAGA[4]AAGGAAG[1], NC_000007.13:g.13936415_13936417AAGA[3]AAGGAAG[1], NC_000007.13:g.13936415_13936417AAGA[2]AAGGAAG[1], NC_000007.13:g.13936417_13936418insAAAGGAAG, NG_029795.1:g.99636_99637insCCTTTCTTTCTTTCTTTCTT, NG_029795.1:g.99636_99637insCCTTTCTTTCTTTCTT, NG_029795.1:g.99636_99637insCCTTTCTTTCTT, NG_029795.1:g.99636_99637insCCTTTCTT

Select item 149112681916.

rs1491126819 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:13959882 (GRCh38)
7:13999507 (GRCh37)
Canonical SPDI:: NC_000007.14:13959881:CA:
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.13959882_13959883del, NC_000007.13:g.13999507_13999508del, NG_029795.1:g.36543_36544del

Select item 149112282117.

rs1491122821 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAAGAAA [Show Flanks]
Chromosome:: 7:13896744 (GRCh38)
7:13936370 (GRCh37)
Canonical SPDI:: NC_000007.14:13896744:AAAGAAAGAAA:AAAGAAAGAAAAAGAAAGAAA
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAGAAAAAGAAAGAAA=0.00008/1 (ALFA)
AAAGAAAGAA=0.00805/27 (GnomAD)
HGVS:: NC_000007.14:g.13896746_13896755dup, NC_000007.13:g.13936371_13936380dup, NG_029795.1:g.99672_99681dup

Select item 149109636218.

rs1491096362 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:13913902 (GRCh38)
7:13953527 (GRCh37)
Canonical SPDI:: NC_000007.14:13913901:TG:
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.008093/96 (ALFA)
-=0.000481/56 (GnomAD)
-=0.006857/114 (TOMMO)
HGVS:: NC_000007.14:g.13913902_13913903del, NC_000007.13:g.13953527_13953528del, NG_029795.1:g.82523_82524del

Select item 149109320119.

rs1491093201 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:13896772 (GRCh38)
7:13936397 (GRCh37)
Canonical SPDI:: NC_000007.14:13896770:AGA:A
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000007.14:g.13896772_13896773del, NC_000007.13:g.13936397_13936398del, NG_029795.1:g.99654_99655del

Select item 149104736320.

rs1491047363 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:13988631 (GRCh38)
7:14028256 (GRCh37)
Canonical SPDI:: NC_000007.14:13988629:AGA:A
Gene:: ETV1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.13988631_13988632del, NC_000007.13:g.14028256_14028257del, NG_029795.1:g.7795_7796del

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