SNP Links for Gene (Select 23513) - SNP

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Select item 14909130901.

rs1490913090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143797213 (GRCh38)
8:144879383 (GRCh37)
Canonical SPDI:: NC_000008.11:143797212:G:A
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.143797213G>A, NC_000008.10:g.144879383G>A, NG_030583.1:g.23167C>T, NT_187571.1:g.274260G>A, NW_003315923.1:g.135858G>A

Select item 14909079922.

rs1490907992 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 8:143810532 (GRCh38)
8:144892703 (GRCh37)
Canonical SPDI:: NC_000008.11:143810532:CCGCCGCC:CCGCCGCCGCC
Gene:: SCRIB (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: CCG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143810535GCC[3], NW_003315923.1:g.149180GCC[3], NG_030583.1:g.9842CGG[3], NM_182706.5:c.1471CGG[3], NM_182706.4:c.1471CGG[3], NM_015356.5:c.1471CGG[3], NM_015356.4:c.1471CGG[3], NT_187571.1:g.287582GCC[3], NC_000008.10:g.144892705GCC[3], NP_874365.3:p.Arg492dup, NP_056171.3:p.Arg492dup

Select item 14908758573.

rs1490875857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143810973 (GRCh38)
8:144893143 (GRCh37)
Canonical SPDI:: NC_000008.11:143810972:A:G
Gene:: SCRIB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143810973A>G, NW_003315923.1:g.149618A>G, NG_030583.1:g.9407T>C, NM_182706.5:c.1206T>C, NM_182706.4:c.1206T>C, NM_015356.5:c.1206T>C, NM_015356.4:c.1206T>C, NT_187571.1:g.288020A>G, NC_000008.10:g.144893143A>G

Select item 14908477034.

rs1490847703 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:143798111 (GRCh38)
8:144880282 (GRCh37)
Canonical SPDI:: NC_000008.11:143798111:TTTTTT:TTTTTTT
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.143798117dup, NC_000008.10:g.144880287dup, NG_030583.1:g.22268dup, NT_187571.1:g.275164dup, NW_003315923.1:g.136762dup

Select item 14907989275.

rs1490798927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143803002 (GRCh38)
8:144885172 (GRCh37)
Canonical SPDI:: NC_000008.11:143803001:G:A
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.143803002G>A, NC_000008.10:g.144885172G>A, NG_030583.1:g.17378C>T, NT_187571.1:g.280049G>A, NW_003315923.1:g.141647G>A

Select item 14906203986.

rs1490620398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143808529 (GRCh38)
8:144890699 (GRCh37)
Canonical SPDI:: NC_000008.11:143808528:G:A
Gene:: SCRIB (Varview)
Functional Consequence:: intron_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_000008.11:g.143808529G>A, NC_000008.10:g.144890699G>A, NG_030583.1:g.11851C>T, NT_187571.1:g.285576G>A, NW_003315923.1:g.147174G>A

Select item 14905967867.

rs1490596786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143816875 (GRCh38)
8:144899045 (GRCh37)
Canonical SPDI:: NC_000008.11:143816874:C:G
Gene:: PUF60 (Varview), SCRIB (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.143816875C>G, NW_003315923.1:g.155520C>G, NG_030583.1:g.3505G>C, NG_033879.1:g.17512G>C, NT_187571.1:g.293922C>G, NC_000008.10:g.144899045C>G

Select item 14904238128.

rs1490423812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143796805 (GRCh38)
8:144878975 (GRCh37)
Canonical SPDI:: NC_000008.11:143796804:G:A
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.143796805G>A, NC_000008.10:g.144878975G>A, NG_030583.1:g.23575C>T, NT_187571.1:g.273852G>A, NW_003315923.1:g.135450G>A

Select item 14904213089.

rs1490421308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143809690 (GRCh38)
8:144891860 (GRCh37)
Canonical SPDI:: NC_000008.11:143809689:A:G
Gene:: SCRIB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000033/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.143809690A>G, NW_003315923.1:g.148335A>G, NG_030583.1:g.10690T>C, NM_182706.5:c.1559T>C, NM_182706.4:c.1559T>C, NM_015356.5:c.1559T>C, NM_015356.4:c.1559T>C, NT_187571.1:g.286737A>G, NC_000008.10:g.144891860A>G, NP_874365.3:p.Leu520Pro, NP_056171.3:p.Leu520Pro

Select item 149035749610.

rs1490357496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143797769 (GRCh38)
8:144879939 (GRCh37)
Canonical SPDI:: NC_000008.11:143797768:G:C
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.143797769G>C, NC_000008.10:g.144879939G>C, NG_030583.1:g.22611C>G, NT_187571.1:g.274816G>C, NW_003315923.1:g.136414G>C

Select item 149034699511.

rs1490346995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:143799250 (GRCh38)
8:144881420 (GRCh37)
Canonical SPDI:: NC_000008.11:143799249:G:A,NC_000008.11:143799249:G:T
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143799250G>A, NC_000008.11:g.143799250G>T, NC_000008.10:g.144881420G>A, NC_000008.10:g.144881420G>T, NG_030583.1:g.21130C>T, NG_030583.1:g.21130C>A, NT_187571.1:g.276297G>A, NT_187571.1:g.276297G>T, NW_003315923.1:g.137895G>A, NW_003315923.1:g.137895G>T

Select item 149017804412.

rs1490178044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143816739 (GRCh38)
8:144898909 (GRCh37)
Canonical SPDI:: NC_000008.11:143816738:A:G
Gene:: PUF60 (Varview), SCRIB (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143816739A>G, NW_003315923.1:g.155384A>G, NG_030583.1:g.3641T>C, NG_033879.1:g.17648T>C, NM_014281.5:c.1410T>C, NM_014281.4:c.1410T>C, NM_001136033.3:c.1332T>C, NM_001136033.2:c.1332T>C, NM_078480.3:c.1461T>C, NM_078480.2:c.1461T>C, NM_001362896.2:c.1572T>C, NM_001362896.1:c.1572T>C, NM_001362895.2:c.1572T>C, NM_001362895.1:c.1572T>C, NM_001362897.2:c.1521T>C, NM_001362897.1:c.1521T>C, NM_001271098.2:c.1458T>C, NM_001271098.1:c.1458T>C, NM_001271100.2:c.1281T>C, NM_001271100.1:c.1281T>C, NM_001271096.2:c.1407T>C, NM_001271096.1:c.1407T>C, NM_001271099.2:c.1374T>C, NM_001271099.1:c.1374T>C, NM_001271097.2:c.1323T>C, NM_001271097.1:c.1323T>C, NT_187571.1:g.293786A>G, NC_000008.10:g.144898909A>G, XM_017013234.2:c.1572T>C, XM_017013234.1:c.1572T>C, XM_017013236.2:c.1521T>C, XM_017013236.1:c.1521T>C, XM_047421579.1:c.1569T>C, XM_047421583.1:c.1518T>C, XM_047421578.1:c.1572T>C, XM_047421581.1:c.1521T>C, XM_047421580.1:c.1569T>C, XM_047421582.1:c.1521T>C

Select item 149010399313.

rs1490103993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143797633 (GRCh38)
8:144879803 (GRCh37)
Canonical SPDI:: NC_000008.11:143797632:G:C
Gene:: SCRIB (Varview)
Functional Consequence:: intron_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_000008.11:g.143797633G>C, NC_000008.10:g.144879803G>C, NG_030583.1:g.22747C>G, NT_187571.1:g.274680G>C, NW_003315923.1:g.136278G>C

Select item 149003494214.

rs1490034942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143808521 (GRCh38)
8:144890691 (GRCh37)
Canonical SPDI:: NC_000008.11:143808520:C:G,NC_000008.11:143808520:C:T
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.143808521C>G, NC_000008.11:g.143808521C>T, NC_000008.10:g.144890691C>G, NC_000008.10:g.144890691C>T, NG_030583.1:g.11859G>C, NG_030583.1:g.11859G>A, NT_187571.1:g.285568C>G, NT_187571.1:g.285568C>T, NW_003315923.1:g.147166C>G, NW_003315923.1:g.147166C>T

Select item 149000810415.

rs1490008104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143792477 (GRCh38)
8:144874647 (GRCh37)
Canonical SPDI:: NC_000008.11:143792476:G:A
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143792477G>A, NC_000008.10:g.144874647G>A, NG_030583.1:g.27903C>T, NT_187571.1:g.269524G>A, NW_003315923.1:g.131122G>A

Select item 148998243216.

rs1489982432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143803271 (GRCh38)
8:144885441 (GRCh37)
Canonical SPDI:: NC_000008.11:143803270:C:G,NC_000008.11:143803270:C:T
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143803271C>G, NC_000008.11:g.143803271C>T, NC_000008.10:g.144885441C>G, NC_000008.10:g.144885441C>T, NG_030583.1:g.17109G>C, NG_030583.1:g.17109G>A, NT_187571.1:g.280318C>G, NT_187571.1:g.280318C>T, NW_003315923.1:g.141916C>G, NW_003315923.1:g.141916C>T

Select item 148976556017.

rs1489765560 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCAGCCTTGG [Show Flanks]
Chromosome:: 8:143795670 (GRCh38)
8:144877841 (GRCh37)
Canonical SPDI:: NC_000008.11:143795670:GGGGCAGCCTTGG:GGGGCAGCCTTGGGGGGCAGCCTTGG
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCAGCCTTGGGGGGCAGCCTTGG=0./0 (ALFA)
GGGGCAGCCTTGG=0.000114/16 (GnomAD)
GGGGCAGCCTTGG=0.001876/31 (TOMMO)
HGVS:: NC_000008.11:g.143795671_143795683dup, NC_000008.10:g.144877841_144877853dup, NG_030583.1:g.24697_24709dup, NT_187571.1:g.272718_272730dup, NW_003315923.1:g.134316_134328dup

Select item 148967408318.

rs1489674083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143791915 (GRCh38)
8:144874085 (GRCh37)
Canonical SPDI:: NC_000008.11:143791914:T:G
Gene:: SCRIB (Varview)
Functional Consequence:: splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.0172/50 (KOREAN)
HGVS:: NC_000008.11:g.143791915T>G, NC_000008.10:g.144874085T>G, NG_030583.1:g.28465A>C, NT_187571.1:g.268962T>G, NW_003315923.1:g.130560T>G

Select item 148959252119.

rs1489592521 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGCTCCGGCGGCG>- [Show Flanks]
Chromosome:: 8:143815390 (GRCh38)
8:144897560 (GRCh37)
Canonical SPDI:: NC_000008.11:143815382:GGCGGCGCGGGCTCCGGCGGCG:GGCGGCG
Gene:: SCRIB (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGCGGCG=0.00009/1 (ALFA)
-=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143815390_143815404del, NW_003315923.1:g.154035_154049del, NG_030583.1:g.4983_4997del, NM_182706.5:c.-25_-11del, NM_015356.5:c.-25_-11del, NG_033879.1:g.18990_19004del, NT_187571.1:g.292437_292451del, NC_000008.10:g.144897560_144897574del

Select item 148950232020.

rs1489502320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143793681 (GRCh38)
8:144875851 (GRCh37)
Canonical SPDI:: NC_000008.11:143793680:T:G
Gene:: SCRIB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143793681T>G, NC_000008.10:g.144875851T>G, NG_030583.1:g.26699A>C, NT_187571.1:g.270728T>G, NW_003315923.1:g.132326T>G

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