SNP Links for Gene (Select 406913) - SNP

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Select item 14914755601.

rs1491475560 has merged into rs756236348 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 9:136671027 (GRCh38)
9:139565479 (GRCh37)
Canonical SPDI:: NC_000009.12:136671025:GTG:G,NC_000009.12:136671025:GTG:GTGTG
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
GT=0./0 (ExAC)
-=0.00194/14 (TOMMO)
HGVS:: NC_000009.12:g.136671027_136671028del, NC_000009.12:g.136671027_136671028dup, NC_000009.11:g.139565479_139565480del, NC_000009.11:g.139565479_139565480dup

Select item 14914275382.

rs1491427538 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 9:136670290 (GRCh38)
9:139564742 (GRCh37)
Canonical SPDI:: NC_000009.12:136670289:GC:
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136670290_136670291del, NC_000009.11:g.139564742_139564743del, NM_016215.5:c.531_532del, NM_016215.4:c.531_532del, NM_201446.3:c.531_532del, NM_201446.2:c.531_532del, NR_045111.2:n.860_861del, NR_045111.1:n.849_850del, NR_045110.2:n.857_858del, NR_045110.1:n.846_847del, XM_017014799.1:c.357_358del, XM_017014798.1:c.357_358del, XM_017014795.1:c.459_460del, XM_017014796.1:c.456_457del, NR_046367.1:n.1442_1443del, XM_011518767.1:c.357_358del, XM_011518768.1:c.357_358del, XM_047423451.1:c.531_532del, NP_057299.1:p.Pro178fs, NP_958854.1:p.Pro178fs, XP_016870288.1:p.Pro120fs, XP_016870287.1:p.Pro120fs, XP_016870284.1:p.Pro154fs, XP_016870285.1:p.Pro153fs, XP_011517069.1:p.Pro120fs, XP_011517070.1:p.Pro120fs, XP_047279407.1:p.Pro178fs

Select item 14908190783.

rs1490819078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136669867 (GRCh38)
9:139564319 (GRCh37)
Canonical SPDI:: NC_000009.12:136669866:G:A
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136669867G>A, NC_000009.11:g.139564319G>A

Select item 14897225324.

rs1489722532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:136668923 (GRCh38)
9:139563375 (GRCh37)
Canonical SPDI:: NC_000009.12:136668922:C:A,NC_000009.12:136668922:C:G
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.136668923C>A, NC_000009.12:g.136668923C>G, NC_000009.11:g.139563375C>A, NC_000009.11:g.139563375C>G

Select item 14897000135.

rs1489700013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136671179 (GRCh38)
9:139565631 (GRCh37)
Canonical SPDI:: NC_000009.12:136671178:C:G,NC_000009.12:136671178:C:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.136671179C>G, NC_000009.12:g.136671179C>T, NC_000009.11:g.139565631C>G, NC_000009.11:g.139565631C>T, NG_008090.1:g.21281G>C, NG_008090.1:g.21281G>A

Select item 14894025516.

rs1489402551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136669329 (GRCh38)
9:139563781 (GRCh37)
Canonical SPDI:: NC_000009.12:136669328:G:C
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136669329G>C, NC_000009.11:g.139563781G>C

Select item 14887399387.

rs1488739938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136668996 (GRCh38)
9:139563448 (GRCh37)
Canonical SPDI:: NC_000009.12:136668995:G:C
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136668996G>C, NC_000009.11:g.139563448G>C

Select item 14874377958.

rs1487437795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136670087 (GRCh38)
9:139564539 (GRCh37)
Canonical SPDI:: NC_000009.12:136670086:C:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.136670087C>T, NC_000009.11:g.139564539C>T

Select item 14872409249.

rs1487240924 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTA>- [Show Flanks]
Chromosome:: 9:136670621 (GRCh38)
9:139565073 (GRCh37)
Canonical SPDI:: NC_000009.12:136670616:ATTATTA:ATTA
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136670618TTA[1], NC_000009.11:g.139565070TTA[1], NR_029695.1:n.17TTA[1]

Select item 148718881310.

rs1487188813 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 9:136669789 (GRCh38)
9:139564241 (GRCh37)
Canonical SPDI:: NC_000009.12:136669786:CTCCT:CT
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136669789_136669791del, NC_000009.11:g.139564241_139564243del

Select item 148677361011.

rs1486773610 [Homo sapiens]

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

Select item 148670185212.

rs1486701852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136668800 (GRCh38)
9:139563252 (GRCh37)
Canonical SPDI:: NC_000009.12:136668799:A:C
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136668800A>C, NC_000009.11:g.139563252A>C

Select item 148578809713.

rs1485788097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136671106 (GRCh38)
9:139565558 (GRCh37)
Canonical SPDI:: NC_000009.12:136671105:A:G
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00219/26 (ALFA)
G=0.0001/9 (GnomAD)
G=0.00017/3 (TOMMO)
G=0.04164/120 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.136671106A>G, NC_000009.11:g.139565558A>G

Select item 148578774214.

rs1485787742 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 9:136670446 (GRCh38)
9:139564899 (GRCh37)
Canonical SPDI:: NC_000009.12:136670446:CTCTC:CTCTCTC
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTC=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
CT=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136670448TC[3], NC_000009.11:g.139564900TC[3]

Select item 148567422215.

rs1485674222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:136671041 (GRCh38)
9:139565493 (GRCh37)
Canonical SPDI:: NC_000009.12:136671040:G:C,NC_000009.12:136671040:G:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000048/1 (ALFA)
T=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136671041G>C, NC_000009.12:g.136671041G>T, NC_000009.11:g.139565493G>C, NC_000009.11:g.139565493G>T

Select item 148545741816.

rs1485457418 [Homo sapiens]

Variant type:: DEL
Alleles:: CGGC>- [Show Flanks]
Chromosome:: 9:136670786 (GRCh38)
9:139565238 (GRCh37)
Canonical SPDI:: NC_000009.12:136670785:CGGC:
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136670786_136670789del, NC_000009.11:g.139565238_139565241del

Select item 148430571117.

rs1484305711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136671005 (GRCh38)
9:139565457 (GRCh37)
Canonical SPDI:: NC_000009.12:136671004:G:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000009.12:g.136671005G>T, NC_000009.11:g.139565457G>T, NM_016215.5:c.627G>T, NM_016215.4:c.627G>T, XM_006717141.4:c.465G>T, XM_006717141.3:c.465G>T, XM_006717141.2:c.465G>T, XM_006717141.1:c.465G>T, NM_201446.3:c.627G>T, NM_201446.2:c.627G>T, NR_045111.2:n.956G>T, NR_045111.1:n.945G>T, NR_045110.2:n.953G>T, NR_045110.1:n.942G>T, XM_017014799.1:c.453G>T, XM_017014798.1:c.453G>T, XM_017014795.1:c.555G>T, XM_017014796.1:c.552G>T, NR_046367.1:n.1538G>T, XM_047423453.1:c.393G>T, XM_011518767.1:c.453G>T, XM_011518768.1:c.453G>T, XM_047423451.1:c.627G>T, XM_047423452.1:c.465G>T

Select item 148354210218.

rs1483542102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136668820 (GRCh38)
9:139563272 (GRCh37)
Canonical SPDI:: NC_000009.12:136668819:C:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136668820C>T, NC_000009.11:g.139563272C>T

Select item 148248611719.

rs1482486117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136669615 (GRCh38)
9:139564067 (GRCh37)
Canonical SPDI:: NC_000009.12:136669614:T:C
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136669615T>C, NC_000009.11:g.139564067T>C, NM_016215.5:c.207T>C, NM_016215.4:c.207T>C, XM_006717141.4:c.207T>C, XM_006717141.3:c.207T>C, XM_006717141.2:c.207T>C, XM_006717141.1:c.207T>C, NM_201446.3:c.207T>C, NM_201446.2:c.207T>C, NR_045111.2:n.536T>C, NR_045111.1:n.525T>C, NR_045110.2:n.533T>C, NR_045110.1:n.522T>C, NR_046367.1:n.1118T>C, XM_047423451.1:c.207T>C, XM_047423452.1:c.207T>C

Select item 148130554620.

rs1481305546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136669732 (GRCh38)
9:139564184 (GRCh37)
Canonical SPDI:: NC_000009.12:136669731:T:C
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136669732T>C, NC_000009.11:g.139564184T>C

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