SNP Links for Protein (Select 170932464) - SNP

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Links from Protein

Items: 1 to 20 of 344

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Select item 14904916931.

rs1490491693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66284661 (GRCh38)
11:66052132 (GRCh37)
Canonical SPDI:: NC_000011.10:66284660:C:G
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66284661C>G, NC_000011.9:g.66052132C>G, NM_020470.3:c.858G>C, NM_020470.2:c.858G>C, NM_001300861.2:c.702G>C, NM_001300861.1:c.702G>C, NP_065203.2:p.Trp286Cys, NP_001287790.1:p.Trp234Cys

Select item 14872838462.

rs1487283846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66287898 (GRCh38)
11:66055369 (GRCh37)
Canonical SPDI:: NC_000011.10:66287897:C:G
Gene:: YIF1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66287898C>G, NC_000011.9:g.66055369C>G, NM_020470.3:c.262G>C, NM_020470.2:c.262G>C, NM_001300861.2:c.262G>C, NM_001300861.1:c.262G>C, NP_065203.2:p.Val88Leu, NP_001287790.1:p.Val88Leu

Select item 14847195553.

rs1484719555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66284643 (GRCh38)
11:66052114 (GRCh37)
Canonical SPDI:: NC_000011.10:66284642:G:T
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66284643G>T, NC_000011.9:g.66052114G>T, NM_020470.3:c.876C>A, NM_020470.2:c.876C>A, NM_001300861.2:c.720C>A, NM_001300861.1:c.720C>A

Select item 14788308144.

rs1478830814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66287820 (GRCh38)
11:66055291 (GRCh37)
Canonical SPDI:: NC_000011.10:66287819:T:C
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66287820T>C, NC_000011.9:g.66055291T>C, NM_020470.3:c.340A>G, NM_020470.2:c.340A>G, NM_001300861.2:c.340A>G, NM_001300861.1:c.340A>G, NP_065203.2:p.Thr114Ala, NP_001287790.1:p.Thr114Ala

Select item 14783208015.

rs1478320801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66285701 (GRCh38)
11:66053172 (GRCh37)
Canonical SPDI:: NC_000011.10:66285700:C:G
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66285701C>G, NC_000011.9:g.66053172C>G, NM_020470.3:c.485G>C, NM_020470.2:c.485G>C, NM_001300861.2:c.485G>C, NM_001300861.1:c.485G>C, NP_065203.2:p.Arg162Thr, NP_001287790.1:p.Arg162Thr

Select item 14781262866.

rs1478126286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:66288100 (GRCh38)
11:66055571 (GRCh37)
Canonical SPDI:: NC_000011.10:66288099:T:C,NC_000011.10:66288099:T:G
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000216/4 (ALFA)
C=0.000004/1 (TOPMED)
G=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.66288100T>C, NC_000011.10:g.66288100T>G, NC_000011.9:g.66055571T>C, NC_000011.9:g.66055571T>G, NM_020470.3:c.224A>G, NM_020470.3:c.224A>C, NM_020470.2:c.224A>G, NM_020470.2:c.224A>C, NM_001300861.2:c.224A>G, NM_001300861.2:c.224A>C, NM_001300861.1:c.224A>G, NM_001300861.1:c.224A>C, NP_065203.2:p.Lys75Arg, NP_065203.2:p.Lys75Thr, NP_001287790.1:p.Lys75Arg, NP_001287790.1:p.Lys75Thr

Select item 14777530707.

rs1477753070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66284913 (GRCh38)
11:66052384 (GRCh37)
Canonical SPDI:: NC_000011.10:66284912:A:G
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66284913A>G, NC_000011.9:g.66052384A>G, NM_020470.3:c.695T>C, NM_020470.2:c.695T>C, NM_001300861.2:c.539T>C, NM_001300861.1:c.539T>C, NP_065203.2:p.Val232Ala, NP_001287790.1:p.Val180Ala

Select item 14773101448.

rs1477310144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:66284650 (GRCh38)
11:66052121 (GRCh37)
Canonical SPDI:: NC_000011.10:66284649:T:G
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66284650T>G, NC_000011.9:g.66052121T>G, NM_020470.3:c.869A>C, NM_020470.2:c.869A>C, NM_001300861.2:c.713A>C, NM_001300861.1:c.713A>C, NP_065203.2:p.His290Pro, NP_001287790.1:p.His238Pro

Select item 14691073619.

rs1469107361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:66287816 (GRCh38)
11:66055287 (GRCh37)
Canonical SPDI:: NC_000011.10:66287815:T:A
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66287816T>A, NC_000011.9:g.66055287T>A, NM_020470.3:c.344A>T, NM_020470.2:c.344A>T, NM_001300861.2:c.344A>T, NM_001300861.1:c.344A>T, NP_065203.2:p.His115Leu, NP_001287790.1:p.His115Leu

Select item 146890095710.

rs1468900957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66288150 (GRCh38)
11:66055621 (GRCh37)
Canonical SPDI:: NC_000011.10:66288149:T:C
Gene:: YIF1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66288150T>C, NC_000011.9:g.66055621T>C, NM_020470.3:c.174A>G, NM_020470.2:c.174A>G, NM_001300861.2:c.174A>G, NM_001300861.1:c.174A>G

Select item 146860548511.

rs1468605485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66285454 (GRCh38)
11:66052925 (GRCh37)
Canonical SPDI:: NC_000011.10:66285453:G:A
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.66285454G>A, NC_000011.9:g.66052925G>A, NM_020470.3:c.568C>T, NM_020470.2:c.568C>T, NP_065203.2:p.Leu190Phe

Select item 146574877112.

rs1465748771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66288159 (GRCh38)
11:66055630 (GRCh37)
Canonical SPDI:: NC_000011.10:66288158:A:G
Gene:: YIF1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66288159A>G, NC_000011.9:g.66055630A>G, NM_020470.3:c.165T>C, NM_020470.2:c.165T>C, NM_001300861.2:c.165T>C, NM_001300861.1:c.165T>C

Select item 146543378013.

rs1465433780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66285395 (GRCh38)
11:66052866 (GRCh37)
Canonical SPDI:: NC_000011.10:66285394:G:A
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66285395G>A, NC_000011.9:g.66052866G>A, NM_020470.3:c.627C>T, NM_020470.2:c.627C>T

Select item 146099634914.

rs1460996349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66288138 (GRCh38)
11:66055609 (GRCh37)
Canonical SPDI:: NC_000011.10:66288137:C:A,NC_000011.10:66288137:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66288138C>A, NC_000011.10:g.66288138C>T, NC_000011.9:g.66055609C>A, NC_000011.9:g.66055609C>T, NM_020470.3:c.186G>T, NM_020470.3:c.186G>A, NM_020470.2:c.186G>T, NM_020470.2:c.186G>A, NM_001300861.2:c.186G>T, NM_001300861.2:c.186G>A, NM_001300861.1:c.186G>T, NM_001300861.1:c.186G>A

Select item 145854045315.

rs1458540453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66285496 (GRCh38)
11:66052967 (GRCh37)
Canonical SPDI:: NC_000011.10:66285495:G:C
Gene:: YIF1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66285496G>C, NC_000011.9:g.66052967G>C, NM_020470.3:c.526C>G, NM_020470.2:c.526C>G, NP_065203.2:p.Leu176Val

Select item 145578175316.

rs1455781753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66284641 (GRCh38)
11:66052112 (GRCh37)
Canonical SPDI:: NC_000011.10:66284640:C:T
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000053/6 (ExAC)
T=0.000061/15 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66284641C>T, NC_000011.9:g.66052112C>T, NM_020470.3:c.878G>A, NM_020470.2:c.878G>A, NM_001300861.2:c.722G>A, NM_001300861.1:c.722G>A, NP_065203.2:p.Arg293Gln, NP_001287790.1:p.Arg241Gln

Select item 144929431417.

rs1449294314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66287672 (GRCh38)
11:66055143 (GRCh37)
Canonical SPDI:: NC_000011.10:66287671:C:A
Gene:: YIF1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66287672C>A, NC_000011.9:g.66055143C>A, NM_020470.3:c.353G>T, NM_020470.2:c.353G>T, NM_001300861.2:c.353G>T, NM_001300861.1:c.353G>T, NP_065203.2:p.Trp118Leu, NP_001287790.1:p.Trp118Leu

Select item 144360791018.

rs1443607910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66284754 (GRCh38)
11:66052225 (GRCh37)
Canonical SPDI:: NC_000011.10:66284753:G:A
Gene:: YIF1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66284754G>A, NC_000011.9:g.66052225G>A, NM_020470.3:c.765C>T, NM_020470.2:c.765C>T, NM_001300861.2:c.609C>T, NM_001300861.1:c.609C>T

Select item 143928443619.

rs1439284436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66284691 (GRCh38)
11:66052162 (GRCh37)
Canonical SPDI:: NC_000011.10:66284690:A:C
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66284691A>C, NC_000011.9:g.66052162A>C, NM_020470.3:c.828T>G, NM_020470.2:c.828T>G, NM_001300861.2:c.672T>G, NM_001300861.1:c.672T>G