SNP Links for Nucleotide (Select 359806885) - SNP

Links from Nucleotide

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Select item 14890644871.

rs1489064487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130492108 (GRCh38)
7:130131949 (GRCh37)
Canonical SPDI:: NC_000007.14:130492107:G:A
Gene:: MEST (Varview), MESTIT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000042/11 (TOPMED)
A=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.130492108G>A, NC_000007.13:g.130131949G>A, NG_009226.1:g.10904G>A, NM_002402.4:c.-206G>A, NM_002402.3:c.-206G>A, NM_001253900.1:c.-206G>A, NG_044996.1:g.4065C>T, NW_003871065.1:g.147526G>A, XM_011516222.3:c.-206G>A, XM_011516222.2:c.-206G>A, XM_011516222.1:c.-206G>A

Select item 14871147722.

rs1487114772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130505747 (GRCh38)
7:130145588 (GRCh37)
Canonical SPDI:: NC_000007.14:130505746:C:T
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000007.14:g.130505747C>T, NC_000007.13:g.130145588C>T, NG_009226.1:g.24543C>T, NM_002402.4:c.*691C>T, NM_002402.3:c.*691C>T, NM_177524.2:c.*691C>T, NM_177525.2:c.*691C>T, NM_001253900.1:c.*691C>T, NM_001253901.1:c.*691C>T, NM_001253902.1:c.*691C>T, NW_003871065.1:g.161165C>T, XM_011516222.3:c.*691C>T, XM_011516222.2:c.*691C>T, XM_011516222.1:c.*691C>T, XM_017012218.3:c.*691C>T, XM_017012218.2:c.*691C>T, XM_017012218.1:c.*691C>T

Select item 14868055813.

rs1486805581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:130506254 (GRCh38)
7:130146095 (GRCh37)
Canonical SPDI:: NC_000007.14:130506253:G:A,NC_000007.14:130506253:G:C
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130506254G>A, NC_000007.14:g.130506254G>C, NC_000007.13:g.130146095G>A, NC_000007.13:g.130146095G>C, NG_009226.1:g.25050G>A, NG_009226.1:g.25050G>C, NM_002402.4:c.*1198G>A, NM_002402.4:c.*1198G>C, NM_002402.3:c.*1198G>A, NM_002402.3:c.*1198G>C, NM_177524.2:c.*1198G>A, NM_177524.2:c.*1198G>C, NM_177525.2:c.*1198G>A, NM_177525.2:c.*1198G>C, NM_001253900.1:c.*1198G>A, NM_001253900.1:c.*1198G>C, NM_001253901.1:c.*1198G>A, NM_001253901.1:c.*1198G>C, NM_001253902.1:c.*1198G>A, NM_001253902.1:c.*1198G>C, NW_003871065.1:g.161672G>A, NW_003871065.1:g.161672G>C, NM_012133.6:c.*422C>T, NM_012133.6:c.*422C>G, NM_012133.5:c.*422C>T, NM_012133.5:c.*422C>G, NM_012133.4:c.*421C>T, NM_012133.4:c.*421C>G, XM_011516222.3:c.*1198G>A, XM_011516222.3:c.*1198G>C, XM_011516222.2:c.*1198G>A, XM_011516222.2:c.*1198G>C, XM_011516222.1:c.*1198G>A, XM_011516222.1:c.*1198G>C, XM_017012218.3:c.*1198G>A, XM_017012218.3:c.*1198G>C, XM_017012218.2:c.*1198G>A, XM_017012218.2:c.*1198G>C, XM_017012218.1:c.*1198G>A, XM_017012218.1:c.*1198G>C

Select item 14866093604.

rs1486609360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130505893 (GRCh38)
7:130145734 (GRCh37)
Canonical SPDI:: NC_000007.14:130505892:A:G
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.130505893A>G, NC_000007.13:g.130145734A>G, NG_009226.1:g.24689A>G, NM_002402.4:c.*837A>G, NM_002402.3:c.*837A>G, NM_177524.2:c.*837A>G, NM_177525.2:c.*837A>G, NM_001253900.1:c.*837A>G, NM_001253901.1:c.*837A>G, NM_001253902.1:c.*837A>G, NW_003871065.1:g.161311A>G, XM_011516222.3:c.*837A>G, XM_011516222.2:c.*837A>G, XM_011516222.1:c.*837A>G, XM_017012218.3:c.*837A>G, XM_017012218.2:c.*837A>G, XM_017012218.1:c.*837A>G

Select item 14823722085.

rs1482372208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:130492185 (GRCh38)
7:130132026 (GRCh37)
Canonical SPDI:: NC_000007.14:130492184:C:G,NC_000007.14:130492184:C:T
Gene:: MEST (Varview), MESTIT1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.130492185C>G, NC_000007.14:g.130492185C>T, NC_000007.13:g.130132026C>G, NC_000007.13:g.130132026C>T, NG_009226.1:g.10981C>G, NG_009226.1:g.10981C>T, NM_002402.4:c.-129C>G, NM_002402.4:c.-129C>T, NM_002402.3:c.-129C>G, NM_002402.3:c.-129C>T, NM_001253900.1:c.-129C>G, NM_001253900.1:c.-129C>T, NG_044996.1:g.3988G>C, NG_044996.1:g.3988G>A, NW_003871065.1:g.147603C>G, NW_003871065.1:g.147603C>T, XM_011516222.3:c.-129C>G, XM_011516222.3:c.-129C>T, XM_011516222.2:c.-129C>G, XM_011516222.2:c.-129C>T, XM_011516222.1:c.-129C>G, XM_011516222.1:c.-129C>T

Select item 14823123966.

rs1482312396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:130506170 (GRCh38)
7:130146012 (GRCh37)
Canonical SPDI:: NC_000007.14:130506170:AAA:AAAA
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
A=0.000049/13 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.130506173dup, NC_000007.13:g.130146014dup, NG_009226.1:g.24969dup, NM_002402.4:c.*1117dup, NM_002402.3:c.*1117dup, NM_177524.2:c.*1117dup, NM_177525.2:c.*1117dup, NM_001253900.1:c.*1117dup, NM_001253901.1:c.*1117dup, NM_001253902.1:c.*1117dup, NW_003871065.1:g.161591dup, XM_011516222.3:c.*1117dup, XM_011516222.2:c.*1117dup, XM_011516222.1:c.*1117dup, XM_017012218.3:c.*1117dup, XM_017012218.2:c.*1117dup, XM_017012218.1:c.*1117dup

Select item 14805558537.

rs1480555853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130506007 (GRCh38)
7:130145848 (GRCh37)
Canonical SPDI:: NC_000007.14:130506006:A:G
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130506007A>G, NC_000007.13:g.130145848A>G, NG_009226.1:g.24803A>G, NM_002402.4:c.*951A>G, NM_002402.3:c.*951A>G, NM_177524.2:c.*951A>G, NM_177525.2:c.*951A>G, NM_001253900.1:c.*951A>G, NM_001253901.1:c.*951A>G, NM_001253902.1:c.*951A>G, NW_003871065.1:g.161425A>G, XM_011516222.3:c.*951A>G, XM_011516222.2:c.*951A>G, XM_011516222.1:c.*951A>G, XM_017012218.3:c.*951A>G, XM_017012218.2:c.*951A>G, XM_017012218.1:c.*951A>G

Select item 14801244798.

rs1480124479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130502684 (GRCh38)
7:130142525 (GRCh37)
Canonical SPDI:: NC_000007.14:130502683:C:T
Gene:: MEST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130502684C>T, NC_000007.13:g.130142525C>T, NG_009226.1:g.21480C>T, NM_002402.4:c.790C>T, NM_002402.3:c.790C>T, NM_177524.2:c.763C>T, NM_177525.2:c.763C>T, NM_001253900.1:c.748C>T, NM_001253901.1:c.661C>T, NM_001253902.1:c.661C>T, NW_003871065.1:g.158102C>T, XM_011516222.3:c.688C>T, XM_011516222.2:c.688C>T, XM_011516222.1:c.688C>T, XM_017012218.3:c.763C>T, XM_017012218.2:c.763C>T, XM_017012218.1:c.763C>T, NP_002393.2:p.Arg264Cys, NP_803490.1:p.Arg255Cys, NP_803491.1:p.Arg255Cys, NP_001240829.1:p.Arg250Cys, NP_001240830.1:p.Arg221Cys, NP_001240831.1:p.Arg221Cys, XP_011514524.1:p.Arg230Cys, XP_016867707.1:p.Arg255Cys

Select item 14781721929.

rs1478172192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130505371 (GRCh38)
7:130145212 (GRCh37)
Canonical SPDI:: NC_000007.14:130505370:G:T
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.130505371G>T, NC_000007.13:g.130145212G>T, NG_009226.1:g.24167G>T, NM_002402.4:c.*315G>T, NM_002402.3:c.*315G>T, NM_177524.2:c.*315G>T, NM_177525.2:c.*315G>T, NM_001253900.1:c.*315G>T, NM_001253901.1:c.*315G>T, NM_001253902.1:c.*315G>T, NW_003871065.1:g.160789G>T, XM_011516222.3:c.*315G>T, XM_011516222.2:c.*315G>T, XM_011516222.1:c.*315G>T, XM_017012218.3:c.*315G>T, XM_017012218.2:c.*315G>T, XM_017012218.1:c.*315G>T

Select item 147653709010.

rs1476537090 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:130505878 (GRCh38)
7:130145719 (GRCh37)
Canonical SPDI:: NC_000007.14:130505877:A:
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000054/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.130505878del, NC_000007.13:g.130145719del, NG_009226.1:g.24674del, NM_002402.4:c.*822del, NM_002402.3:c.*822del, NM_177524.2:c.*822del, NM_177525.2:c.*822del, NM_001253900.1:c.*822del, NM_001253901.1:c.*822del, NM_001253902.1:c.*822del, NW_003871065.1:g.161296del, XM_011516222.3:c.*822del, XM_011516222.2:c.*822del, XM_011516222.1:c.*822del, XM_017012218.3:c.*822del, XM_017012218.2:c.*822del, XM_017012218.1:c.*822del

Select item 147644224411.

rs1476442244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:130505270 (GRCh38)
7:130145111 (GRCh37)
Canonical SPDI:: NC_000007.14:130505269:T:A
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130505270T>A, NC_000007.13:g.130145111T>A, NG_009226.1:g.24066T>A, NM_002402.4:c.*214T>A, NM_002402.3:c.*214T>A, NM_177524.2:c.*214T>A, NM_177525.2:c.*214T>A, NM_001253900.1:c.*214T>A, NM_001253901.1:c.*214T>A, NM_001253902.1:c.*214T>A, NW_003871065.1:g.160688T>A, XM_011516222.3:c.*214T>A, XM_011516222.2:c.*214T>A, XM_011516222.1:c.*214T>A, XM_017012218.3:c.*214T>A, XM_017012218.2:c.*214T>A, XM_017012218.1:c.*214T>A

Select item 147480823212.

rs1474808232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:130505712 (GRCh38)
7:130145553 (GRCh37)
Canonical SPDI:: NC_000007.14:130505711:C:G
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130505712C>G, NC_000007.13:g.130145553C>G, NG_009226.1:g.24508C>G, NM_002402.4:c.*656C>G, NM_002402.3:c.*656C>G, NM_177524.2:c.*656C>G, NM_177525.2:c.*656C>G, NM_001253900.1:c.*656C>G, NM_001253901.1:c.*656C>G, NM_001253902.1:c.*656C>G, NW_003871065.1:g.161130C>G, XM_011516222.3:c.*656C>G, XM_011516222.2:c.*656C>G, XM_011516222.1:c.*656C>G, XM_017012218.3:c.*656C>G, XM_017012218.2:c.*656C>G, XM_017012218.1:c.*656C>G

Select item 147252896513.

rs1472528965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130492225 (GRCh38)
7:130132066 (GRCh37)
Canonical SPDI:: NC_000007.14:130492224:C:T
Gene:: MEST (Varview), MESTIT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00006/16 (TOPMED)
T=0.000351/1 (KOREAN)
HGVS:: NC_000007.14:g.130492225C>T, NC_000007.13:g.130132066C>T, NG_009226.1:g.11021C>T, NM_002402.4:c.-89C>T, NM_002402.3:c.-89C>T, NM_001253900.1:c.-89C>T, NG_044996.1:g.3948G>A, NW_003871065.1:g.147643C>T, XM_011516222.3:c.-89C>T, XM_011516222.2:c.-89C>T, XM_011516222.1:c.-89C>T

Select item 146962171114.

rs1469621711 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 7:130505495 (GRCh38)
7:130145337 (GRCh37)
Canonical SPDI:: NC_000007.14:130505495:GT:GTGT
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.000015/4 (TOPMED)
GT=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.130505496_130505497dup, NC_000007.13:g.130145337_130145338dup, NG_009226.1:g.24292_24293dup, NM_002402.4:c.*440_*441dup, NM_002402.3:c.*440_*441dup, NM_177524.2:c.*440_*441dup, NM_177525.2:c.*440_*441dup, NM_001253900.1:c.*440_*441dup, NM_001253901.1:c.*440_*441dup, NM_001253902.1:c.*440_*441dup, NW_003871065.1:g.160914_160915dup, XM_011516222.3:c.*440_*441dup, XM_011516222.2:c.*440_*441dup, XM_011516222.1:c.*440_*441dup, XM_017012218.3:c.*440_*441dup, XM_017012218.2:c.*440_*441dup, XM_017012218.1:c.*440_*441dup

Select item 146934554615.

rs1469345546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130505903 (GRCh38)
7:130145744 (GRCh37)
Canonical SPDI:: NC_000007.14:130505902:G:A
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130505903G>A, NC_000007.13:g.130145744G>A, NG_009226.1:g.24699G>A, NM_002402.4:c.*847G>A, NM_002402.3:c.*847G>A, NM_177524.2:c.*847G>A, NM_177525.2:c.*847G>A, NM_001253900.1:c.*847G>A, NM_001253901.1:c.*847G>A, NM_001253902.1:c.*847G>A, NW_003871065.1:g.161321G>A, XM_011516222.3:c.*847G>A, XM_011516222.2:c.*847G>A, XM_011516222.1:c.*847G>A, XM_017012218.3:c.*847G>A, XM_017012218.2:c.*847G>A, XM_017012218.1:c.*847G>A

Select item 146608665416.

rs1466086654 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:130505112 (GRCh38)
7:130144953 (GRCh37)
Canonical SPDI:: NC_000007.14:130505111:TT:T
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130505113del, NC_000007.13:g.130144954del, NG_009226.1:g.23909del, NM_002402.4:c.*57del, NM_002402.3:c.*57del, NM_177524.2:c.*57del, NM_177525.2:c.*57del, NM_001253900.1:c.*57del, NM_001253901.1:c.*57del, NM_001253902.1:c.*57del, NW_003871065.1:g.160531del, XM_011516222.3:c.*57del, XM_011516222.2:c.*57del, XM_011516222.1:c.*57del, XM_017012218.3:c.*57del, XM_017012218.2:c.*57del, XM_017012218.1:c.*57del

Select item 146568202317.

rs1465682023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:130500462 (GRCh38)
7:130140303 (GRCh37)
Canonical SPDI:: NC_000007.14:130500461:C:A,NC_000007.14:130500461:C:G,NC_000007.14:130500461:C:T
Gene:: MEST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130500462C>A, NC_000007.14:g.130500462C>G, NC_000007.14:g.130500462C>T, NC_000007.13:g.130140303C>A, NC_000007.13:g.130140303C>G, NC_000007.13:g.130140303C>T, NG_009226.1:g.19258C>A, NG_009226.1:g.19258C>G, NG_009226.1:g.19258C>T, NM_002402.4:c.577C>A, NM_002402.4:c.577C>G, NM_002402.4:c.577C>T, NM_002402.3:c.577C>A, NM_002402.3:c.577C>G, NM_002402.3:c.577C>T, NM_177524.2:c.550C>A, NM_177524.2:c.550C>G, NM_177524.2:c.550C>T, NM_177525.2:c.550C>A, NM_177525.2:c.550C>G, NM_177525.2:c.550C>T, NM_001253900.1:c.535C>A, NM_001253900.1:c.535C>G, NM_001253900.1:c.535C>T, NM_001253901.1:c.550C>A, NM_001253901.1:c.550C>G, NM_001253901.1:c.550C>T, NM_001253902.1:c.550C>A, NM_001253902.1:c.550C>G, NM_001253902.1:c.550C>T, NW_003871065.1:g.155880C>A, NW_003871065.1:g.155880C>G, NW_003871065.1:g.155880C>T, XM_011516222.3:c.577C>A, XM_011516222.3:c.577C>G, XM_011516222.3:c.577C>T, XM_011516222.2:c.577C>A, XM_011516222.2:c.577C>G, XM_011516222.2:c.577C>T, XM_011516222.1:c.577C>A, XM_011516222.1:c.577C>G, XM_011516222.1:c.577C>T, XM_017012218.3:c.550C>A, XM_017012218.3:c.550C>G, XM_017012218.3:c.550C>T, XM_017012218.2:c.550C>A, XM_017012218.2:c.550C>G, XM_017012218.2:c.550C>T, XM_017012218.1:c.550C>A, XM_017012218.1:c.550C>G, XM_017012218.1:c.550C>T, NP_002393.2:p.Leu193Ile, NP_002393.2:p.Leu193Val, NP_803490.1:p.Leu184Ile, NP_803490.1:p.Leu184Val, NP_803491.1:p.Leu184Ile, NP_803491.1:p.Leu184Val, NP_001240829.1:p.Leu179Ile, NP_001240829.1:p.Leu179Val, NP_001240830.1:p.Leu184Ile, NP_001240830.1:p.Leu184Val, NP_001240831.1:p.Leu184Ile, NP_001240831.1:p.Leu184Val, XP_011514524.1:p.Leu193Ile, XP_011514524.1:p.Leu193Val, XP_016867707.1:p.Leu184Ile, XP_016867707.1:p.Leu184Val

Select item 146365829218.

rs1463658292 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:130505968 (GRCh38)
7:130145809 (GRCh37)
Canonical SPDI:: NC_000007.14:130505967:A:
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.130505968del, NC_000007.13:g.130145809del, NG_009226.1:g.24764del, NM_002402.4:c.*912del, NM_002402.3:c.*912del, NM_177524.2:c.*912del, NM_177525.2:c.*912del, NM_001253900.1:c.*912del, NM_001253901.1:c.*912del, NM_001253902.1:c.*912del, NW_003871065.1:g.161386del, XM_011516222.3:c.*912del, XM_011516222.2:c.*912del, XM_011516222.1:c.*912del, XM_017012218.3:c.*912del, XM_017012218.2:c.*912del, XM_017012218.1:c.*912del

Select item 146350787319.

rs1463507873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130505354 (GRCh38)
7:130145195 (GRCh37)
Canonical SPDI:: NC_000007.14:130505353:C:T
Gene:: MEST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.130505354C>T, NC_000007.13:g.130145195C>T, NG_009226.1:g.24150C>T, NM_002402.4:c.*298C>T, NM_002402.3:c.*298C>T, NM_177524.2:c.*298C>T, NM_177525.2:c.*298C>T, NM_001253900.1:c.*298C>T, NM_001253901.1:c.*298C>T, NM_001253902.1:c.*298C>T, NW_003871065.1:g.160772C>T, XM_011516222.3:c.*298C>T, XM_011516222.2:c.*298C>T, XM_011516222.1:c.*298C>T, XM_017012218.3:c.*298C>T, XM_017012218.2:c.*298C>T, XM_017012218.1:c.*298C>T

Select item 146316158820.

rs1463161588 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTGCCCGGCGCGGCGCCGCCCTGCGCGGGCTGT>- [Show Flanks]
Chromosome:: 7:130492173 (GRCh38)
7:130132014 (GRCh37)
Canonical SPDI:: NC_000007.14:130492166:GGCTGTAGCTGCCCGGCGCGGCGCCGCCCTGCGCGGGCTGT:GGCTGT
Gene:: MEST (Varview), MESTIT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGCTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130492173_130492207del, NC_000007.13:g.130132014_130132048del, NG_009226.1:g.10969_11003del, NM_002402.4:c.-141_-107del, NM_002402.3:c.-141_-107del, NM_001253900.1:c.-141_-107del, NG_044996.1:g.3972_4006del, NW_003871065.1:g.147591_147625del, XM_011516222.3:c.-141_-107del, XM_011516222.2:c.-141_-107del, XM_011516222.1:c.-141_-107del

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