SNP Links for Nucleotide (Select 359806821) - SNP - NCBI

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Links from Nucleotide

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Select item 14871147721.

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 14868055812.

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 14866093603.

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 14823123964.

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 14805558535.

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 14801244796.

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 14781721927.

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 14765370908.

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 14764422449.

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 147480823210.

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 147107070611.

rs1471070706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:130486329 (GRCh38)
7:130126170 (GRCh37)
Canonical SPDI:: NC_000007.14:130486328:A:T
Gene:: MEST (Varview), MESTIT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.130486329A>T, NC_000007.13:g.130126170A>T, NG_009226.1:g.5125A>T, NM_177524.2:c.-68A>T, NM_001253901.1:c.-68A>T, NG_044996.1:g.9844T>A, NR_004382.2:n.3775T>A, NW_003871065.1:g.141747A>T

Select item 146962171112.

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 146934554613.

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 146608665414.

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 146568202315.

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 146365829216.

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 146350787317.

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 146304409018.

rs1463044090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:130506115 (GRCh38)
7:130145956 (GRCh37)
Canonical SPDI:: NC_000007.14:130506114:A:C,NC_000007.14:130506114:A:G
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:: G=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130506115A>C, NC_000007.14:g.130506115A>G, NC_000007.13:g.130145956A>C, NC_000007.13:g.130145956A>G, NG_009226.1:g.24911A>C, NG_009226.1:g.24911A>G, NM_002402.4:c.*1059A>C, NM_002402.4:c.*1059A>G, NM_002402.3:c.*1059A>C, NM_002402.3:c.*1059A>G, NM_177524.2:c.*1059A>C, NM_177524.2:c.*1059A>G, NM_177525.2:c.*1059A>C, NM_177525.2:c.*1059A>G, NM_001253900.1:c.*1059A>C, NM_001253900.1:c.*1059A>G, NM_001253901.1:c.*1059A>C, NM_001253901.1:c.*1059A>G, NM_001253902.1:c.*1059A>C, NM_001253902.1:c.*1059A>G, NW_003871065.1:g.161533A>C, NW_003871065.1:g.161533A>G, XM_011516222.3:c.*1059A>C, XM_011516222.3:c.*1059A>G, XM_011516222.2:c.*1059A>C, XM_011516222.2:c.*1059A>G, XM_011516222.1:c.*1059A>C, XM_011516222.1:c.*1059A>G, XM_017012218.3:c.*1059A>C, XM_017012218.3:c.*1059A>G, XM_017012218.2:c.*1059A>C, XM_017012218.2:c.*1059A>G, XM_017012218.1:c.*1059A>C, XM_017012218.1:c.*1059A>G

Select item 146088237719.

rs1460882377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:130505868 (GRCh38)
7:130145709 (GRCh37)
Canonical SPDI:: NC_000007.14:130505867:A:G,NC_000007.14:130505867:A:T
Gene:: MEST (Varview), COPG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130505868A>G, NC_000007.14:g.130505868A>T, NC_000007.13:g.130145709A>G, NC_000007.13:g.130145709A>T, NG_009226.1:g.24664A>G, NG_009226.1:g.24664A>T, NM_002402.4:c.*812A>G, NM_002402.4:c.*812A>T, NM_002402.3:c.*812A>G, NM_002402.3:c.*812A>T, NM_177524.2:c.*812A>G, NM_177524.2:c.*812A>T, NM_177525.2:c.*812A>G, NM_177525.2:c.*812A>T, NM_001253900.1:c.*812A>G, NM_001253900.1:c.*812A>T, NM_001253901.1:c.*812A>G, NM_001253901.1:c.*812A>T, NM_001253902.1:c.*812A>G, NM_001253902.1:c.*812A>T, NW_003871065.1:g.161286A>G, NW_003871065.1:g.161286A>T, XM_011516222.3:c.*812A>G, XM_011516222.3:c.*812A>T, XM_011516222.2:c.*812A>G, XM_011516222.2:c.*812A>T, XM_011516222.1:c.*812A>G, XM_011516222.1:c.*812A>T, XM_017012218.3:c.*812A>G, XM_017012218.3:c.*812A>T, XM_017012218.2:c.*812A>G, XM_017012218.2:c.*812A>T, XM_017012218.1:c.*812A>G, XM_017012218.1:c.*812A>T

Select item 145757302320.

rs1457573023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130504954 (GRCh38)
7:130144795 (GRCh37)
Canonical SPDI:: NC_000007.14:130504953:G:A
Gene:: MEST (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130504954G>A, NC_000007.13:g.130144795G>A, NG_009226.1:g.23750G>A, NM_002402.4:c.906G>A, NM_002402.3:c.906G>A, NM_177524.2:c.879G>A, NM_177525.2:c.879G>A, NM_001253900.1:c.864G>A, NM_001253901.1:c.777G>A, NM_001253902.1:c.777G>A, NW_003871065.1:g.160372G>A, XM_011516222.3:c.804G>A, XM_011516222.2:c.804G>A, XM_011516222.1:c.804G>A, XM_017012218.3:c.879G>A, XM_017012218.2:c.879G>A, XM_017012218.1:c.879G>A

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