SNP Links for Gene (Select 10897) - SNP

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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 14896873112.

rs1489687311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66290712 (GRCh38)
11:66058183 (GRCh37)
Canonical SPDI:: NC_000011.10:66290711:T:C
Gene:: YIF1A (Varview), TMEM151A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66290712T>C, NC_000011.9:g.66058183T>C

Select item 14889346553.

rs1488934655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66286024 (GRCh38)
11:66053495 (GRCh37)
Canonical SPDI:: NC_000011.10:66286023:C:A
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66286024C>A, NC_000011.9:g.66053495C>A

Select item 14888842324.

rs1488884232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66286152 (GRCh38)
11:66053623 (GRCh37)
Canonical SPDI:: NC_000011.10:66286151:A:G
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66286152A>G, NC_000011.9:g.66053623A>G

Select item 14888012185.

rs1488801218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66287151 (GRCh38)
11:66054622 (GRCh37)
Canonical SPDI:: NC_000011.10:66287150:G:C
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66287151G>C, NC_000011.9:g.66054622G>C

Select item 14880203796.

rs1488020379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66290100 (GRCh38)
11:66057571 (GRCh37)
Canonical SPDI:: NC_000011.10:66290099:C:G
Gene:: YIF1A (Varview), TMEM151A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66290100C>G, NC_000011.9:g.66057571C>G

Select item 14877047557.

rs1487704755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66284529 (GRCh38)
11:66052000 (GRCh37)
Canonical SPDI:: NC_000011.10:66284528:A:C
Gene:: YIF1A (Varview), CNIH2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000011.10:g.66284529A>C, NC_000011.9:g.66052000A>C

Select item 14872838468.

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 14865334359.

rs1486533435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66289424 (GRCh38)
11:66056895 (GRCh37)
Canonical SPDI:: NC_000011.10:66289423:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66289424C>T, NC_000011.9:g.66056895C>T, NG_056472.1:g.367C>T

Select item 148650410310.

rs1486504103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66288665 (GRCh38)
11:66056136 (GRCh37)
Canonical SPDI:: NC_000011.10:66288664:A:G
Gene:: YIF1A (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)
HGVS:: NC_000011.10:g.66288665A>G, NC_000011.9:g.66056136A>G

Select item 148565782911.

rs1485657829 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:66287075 (GRCh38)
11:66054546 (GRCh37)
Canonical SPDI:: NC_000011.10:66287074:AG:
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.66287075_66287076del, NC_000011.9:g.66054546_66054547del

Select item 148488664912.

rs1484886649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66290014 (GRCh38)
11:66057485 (GRCh37)
Canonical SPDI:: NC_000011.10:66290013:C:G
Gene:: YIF1A (Varview), TMEM151A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.66290014C>G, NC_000011.9:g.66057485C>G

Select item 148471955513.

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 148422875714.

rs1484228757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66289747 (GRCh38)
11:66057218 (GRCh37)
Canonical SPDI:: NC_000011.10:66289746:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66289747C>T, NC_000011.9:g.66057218C>T

Select item 148422036515.

rs1484220365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66285660 (GRCh38)
11:66053131 (GRCh37)
Canonical SPDI:: NC_000011.10:66285659:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66285660C>T, NC_000011.9:g.66053131C>T

Select item 148421954616.

rs1484219546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66287595 (GRCh38)
11:66055066 (GRCh37)
Canonical SPDI:: NC_000011.10:66287594:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66287595C>T, NC_000011.9:g.66055066C>T

Select item 148409847617.

rs1484098476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66288802 (GRCh38)
11:66056273 (GRCh37)
Canonical SPDI:: NC_000011.10:66288801:C:A,NC_000011.10:66288801:C:T
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66288802C>A, NC_000011.10:g.66288802C>T, NC_000011.9:g.66056273C>A, NC_000011.9:g.66056273C>T

Select item 148361221518.

rs1483612215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66288059 (GRCh38)
11:66055530 (GRCh37)
Canonical SPDI:: NC_000011.10:66288058:G:A
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.66288059G>A, NC_000011.9:g.66055530G>A

Select item 148353668219.

rs1483536682 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 11:66290122 (GRCh38)
11:66057594 (GRCh37)
Canonical SPDI:: NC_000011.10:66290122::AGG
Gene:: YIF1A (Varview), TMEM151A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGG=0./0 (ALFA)
AGG=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66290122_66290123insAGG, NC_000011.9:g.66057593_66057594insAGG

Select item 148338197720.

rs1483381977 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:66288443 (GRCh38)
11:66055914 (GRCh37)
Canonical SPDI:: NC_000011.10:66288442:AAAAAA:AAAAA,NC_000011.10:66288442:AAAAAA:AAAAAAA
Gene:: YIF1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.00007/1 (ALFA)
HGVS:: NC_000011.10:g.66288448del, NC_000011.10:g.66288448dup, NC_000011.9:g.66055919del, NC_000011.9:g.66055919dup

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