SNP Links for Gene (Select 442904) - SNP

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Select item 14913786551.

rs1491378655 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:130495778 (GRCh38)
7:130135619 (GRCh37)
Canonical SPDI:: NC_000007.14:130495777:GT:
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00117/19 (ALFA)
-=0.00039/6 (TOMMO)
-=0.00262/223 (GnomAD)
-=0.00502/3 (NorthernSweden)
HGVS:: NC_000007.14:g.130495778_130495779del, NC_000007.13:g.130135619_130135620del, NG_009226.1:g.14574_14575del, NG_044996.1:g.394_395del, NW_003871065.1:g.151196_151197del

Select item 14910241182.

rs1491024118 has merged into rs71178591 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 7:130495792 (GRCh38)
7:130135633 (GRCh37)
Canonical SPDI:: NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130495778:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTTT=0.3375/1690 (1000Genomes)
HGVS:: NC_000007.14:g.130495792_130495793del, NC_000007.14:g.130495793del, NC_000007.14:g.130495793dup, NC_000007.14:g.130495792_130495793dup, NC_000007.14:g.130495791_130495793dup, NC_000007.14:g.130495790_130495793dup, NC_000007.14:g.130495789_130495793dup, NC_000007.14:g.130495788_130495793dup, NC_000007.14:g.130495787_130495793dup, NC_000007.14:g.130495786_130495793dup, NC_000007.14:g.130495785_130495793dup, NC_000007.13:g.130135633_130135634del, NC_000007.13:g.130135634del, NC_000007.13:g.130135634dup, NC_000007.13:g.130135633_130135634dup, NC_000007.13:g.130135632_130135634dup, NC_000007.13:g.130135631_130135634dup, NC_000007.13:g.130135630_130135634dup, NC_000007.13:g.130135629_130135634dup, NC_000007.13:g.130135628_130135634dup, NC_000007.13:g.130135627_130135634dup, NC_000007.13:g.130135626_130135634dup, NG_009226.1:g.14588_14589del, NG_009226.1:g.14589del, NG_009226.1:g.14589dup, NG_009226.1:g.14588_14589dup, NG_009226.1:g.14587_14589dup, NG_009226.1:g.14586_14589dup, NG_009226.1:g.14585_14589dup, NG_009226.1:g.14584_14589dup, NG_009226.1:g.14583_14589dup, NG_009226.1:g.14582_14589dup, NG_009226.1:g.14581_14589dup, NG_044996.1:g.393_394del, NG_044996.1:g.394del, NG_044996.1:g.394dup, NG_044996.1:g.393_394dup, NG_044996.1:g.392_394dup, NG_044996.1:g.391_394dup, NG_044996.1:g.390_394dup, NG_044996.1:g.389_394dup, NG_044996.1:g.388_394dup, NG_044996.1:g.387_394dup, NG_044996.1:g.386_394dup, NW_003871065.1:g.151210_151211del, NW_003871065.1:g.151211del, NW_003871065.1:g.151211dup, NW_003871065.1:g.151210_151211dup, NW_003871065.1:g.151209_151211dup, NW_003871065.1:g.151208_151211dup, NW_003871065.1:g.151207_151211dup, NW_003871065.1:g.151206_151211dup, NW_003871065.1:g.151205_151211dup, NW_003871065.1:g.151204_151211dup, NW_003871065.1:g.151203_151211dup

Select item 14897457713.

rs1489745771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130495558 (GRCh38)
7:130135399 (GRCh37)
Canonical SPDI:: NC_000007.14:130495557:G:A
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.130495558G>A, NC_000007.13:g.130135399G>A, NG_009226.1:g.14354G>A, NG_044996.1:g.615C>T, NW_003871065.1:g.150976G>A

Select item 14893593704.

rs1489359370 [Homo sapiens]

Variant type:: DEL
Alleles:: CTC>- [Show Flanks]
Chromosome:: 7:130494870 (GRCh38)
7:130134711 (GRCh37)
Canonical SPDI:: NC_000007.14:130494869:CTC:
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.130494870_130494872del, NC_000007.13:g.130134711_130134713del, NG_009226.1:g.13666_13668del, NG_044996.1:g.1301_1303del, NW_003871065.1:g.150288_150290del

Select item 14885122215.

rs1488512221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:130495803 (GRCh38)
7:130135644 (GRCh37)
Canonical SPDI:: NC_000007.14:130495802:G:A,NC_000007.14:130495802:G:C
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.130495803G>A, NC_000007.14:g.130495803G>C, NC_000007.13:g.130135644G>A, NC_000007.13:g.130135644G>C, NG_009226.1:g.14599G>A, NG_009226.1:g.14599G>C, NG_044996.1:g.370C>T, NG_044996.1:g.370C>G, NW_003871065.1:g.151221G>A, NW_003871065.1:g.151221G>C

Select item 14881718446.

rs1488171844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130496343 (GRCh38)
7:130136184 (GRCh37)
Canonical SPDI:: NC_000007.14:130496342:A:G
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130496343A>G, NC_000007.13:g.130136184A>G, NG_009226.1:g.15139A>G, NW_003871065.1:g.151761A>G

Select item 14880554257.

rs1488055425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:130494974 (GRCh38)
7:130134816 (GRCh37)
Canonical SPDI:: NC_000007.14:130494974:TTTTTTT:TTTTTTTT
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.130494981dup, NC_000007.13:g.130134822dup, NG_009226.1:g.13777dup, NG_044996.1:g.1198dup, NW_003871065.1:g.150399dup

Select item 14877918348.

rs1487791834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130496359 (GRCh38)
7:130136200 (GRCh37)
Canonical SPDI:: NC_000007.14:130496358:T:C
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.130496359T>C, NC_000007.13:g.130136200T>C, NG_009226.1:g.15155T>C, NW_003871065.1:g.151777T>C

Select item 14877515989.

rs1487751598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130495357 (GRCh38)
7:130135198 (GRCh37)
Canonical SPDI:: NC_000007.14:130495356:T:C
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.130495357T>C, NC_000007.13:g.130135198T>C, NG_009226.1:g.14153T>C, NG_044996.1:g.816A>G, NW_003871065.1:g.150775T>C

Select item 148339405110.

rs1483394051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:130495216 (GRCh38)
7:130135057 (GRCh37)
Canonical SPDI:: NC_000007.14:130495215:T:G
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130495216T>G, NC_000007.13:g.130135057T>G, NG_009226.1:g.14012T>G, NG_044996.1:g.957A>C, NW_003871065.1:g.150634T>G

Select item 147929053011.

rs1479290530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130494423 (GRCh38)
7:130134264 (GRCh37)
Canonical SPDI:: NC_000007.14:130494422:A:G
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.130494423A>G, NC_000007.13:g.130134264A>G, NG_009226.1:g.13219A>G, NG_044996.1:g.1750T>C, NW_003871065.1:g.149841A>G

Select item 147922155012.

rs1479221550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:130495722 (GRCh38)
7:130135563 (GRCh37)
Canonical SPDI:: NC_000007.14:130495721:A:T
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130495722A>T, NC_000007.13:g.130135563A>T, NG_009226.1:g.14518A>T, NG_044996.1:g.451T>A, NW_003871065.1:g.151140A>T

Select item 147896205313.

rs1478962053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 7:130494967 (GRCh38)
7:130134808 (GRCh37)
Canonical SPDI:: NC_000007.14:130494961:AAGAAAGAA:AAGAA
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.130494963AGAA[1], NC_000007.13:g.130134804AGAA[1], NG_009226.1:g.13759AGAA[1], NG_044996.1:g.1204TCTT[1], NW_003871065.1:g.150381AGAA[1]

Select item 147767860014.

rs1477678600 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTAA>- [Show Flanks]
Chromosome:: 7:130495933 (GRCh38)
7:130135774 (GRCh37)
Canonical SPDI:: NC_000007.14:130495929:TAAATTAA:TAA
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.130495933_130495937del, NC_000007.13:g.130135774_130135778del, NG_009226.1:g.14729_14733del, NG_044996.1:g.239_243del, NW_003871065.1:g.151351_151355del

Select item 147728401415.

rs1477284014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:130496451 (GRCh38)
7:130136292 (GRCh37)
Canonical SPDI:: NC_000007.14:130496450:A:C
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000007.14:g.130496451A>C, NC_000007.13:g.130136292A>C, NG_009226.1:g.15247A>C, NW_003871065.1:g.151869A>C

Select item 147698632516.

rs1476986325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:130495795 (GRCh38)
7:130135636 (GRCh37)
Canonical SPDI:: NC_000007.14:130495794:A:G,NC_000007.14:130495794:A:T
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00011/7 (GnomAD)
T=0.00028/5 (TOMMO)
HGVS:: NC_000007.14:g.130495795A>G, NC_000007.14:g.130495795A>T, NC_000007.13:g.130135636A>G, NC_000007.13:g.130135636A>T, NG_009226.1:g.14591A>G, NG_009226.1:g.14591A>T, NG_044996.1:g.378T>C, NG_044996.1:g.378T>A, NW_003871065.1:g.151213A>G, NW_003871065.1:g.151213A>T

Select item 147680503317.

rs1476805033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130495627 (GRCh38)
7:130135468 (GRCh37)
Canonical SPDI:: NC_000007.14:130495626:G:A
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.0001/14 (GnomAD)
A=0.000102/27 (TOPMED)
HGVS:: NC_000007.14:g.130495627G>A, NC_000007.13:g.130135468G>A, NG_009226.1:g.14423G>A, NG_044996.1:g.546C>T, NW_003871065.1:g.151045G>A

Select item 147448051018.

rs1474480510 has merged into rs201580368 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 7:130494869 (GRCh38)
7:130134710 (GRCh37)
Canonical SPDI:: NC_000007.14:130494858:ACACACACACAC:ACACACACAC,NC_000007.14:130494858:ACACACACACAC:ACACACACACACAC
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.130494859AC[5], NC_000007.14:g.130494859AC[7], NC_000007.13:g.130134700AC[5], NC_000007.13:g.130134700AC[7], NG_009226.1:g.13655AC[5], NG_009226.1:g.13655AC[7], NG_044996.1:g.1303GT[5], NG_044996.1:g.1303GT[7], NW_003871065.1:g.150277AC[5], NW_003871065.1:g.150277AC[7]

Select item 146988087519.

rs1469880875 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:130496489 (GRCh38)
7:130136330 (GRCh37)
Canonical SPDI:: NC_000007.14:130496488:C:
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130496489del, NC_000007.13:g.130136330del, NG_009226.1:g.15285del, NW_003871065.1:g.151907del

Select item 146775426020.

rs1467754260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:130494530 (GRCh38)
7:130134371 (GRCh37)
Canonical SPDI:: NC_000007.14:130494529:A:C
Gene:: MEST (Varview), MIR335 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130494530A>C, NC_000007.13:g.130134371A>C, NG_009226.1:g.13326A>C, NG_044996.1:g.1643T>G, NW_003871065.1:g.149948A>C

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