SNP Links for Gene (Select 317781) - SNP

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Select item 14906187971.

rs1490618797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132136725 (GRCh38)
12:132621270 (GRCh37)
Canonical SPDI:: NC_000012.12:132136724:G:A
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.132136725G>A, NC_000012.11:g.132621270G>A, NW_021160007.1:g.43754G>A, NM_175066.4:c.*2547C>T, NM_175066.3:c.*2547C>T

Select item 14904918012.

rs1490491801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:132138484 (GRCh38)
12:132623029 (GRCh37)
Canonical SPDI:: NC_000012.12:132138483:T:C,NC_000012.12:132138483:T:G
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.132138484T>C, NC_000012.12:g.132138484T>G, NC_000012.11:g.132623029T>C, NC_000012.11:g.132623029T>G, NW_021160007.1:g.45513T>C, NW_021160007.1:g.45513T>G, NM_175066.4:c.*788A>G, NM_175066.4:c.*788A>C, NM_175066.3:c.*788A>G, NM_175066.3:c.*788A>C

Select item 14903057463.

rs1490305746 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:132136330 (GRCh38)
12:132620876 (GRCh37)
Canonical SPDI:: NC_000012.12:132136330::A
Gene:: DDX51 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.132136330_132136331insA, NC_000012.11:g.132620875_132620876insA, NW_021160007.1:g.43359_43360insA

Select item 14902574904.

rs1490257490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132145721 (GRCh38)
12:132630266 (GRCh37)
Canonical SPDI:: NC_000012.12:132145720:T:C
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.132145721T>C, NC_000012.11:g.132630266T>C, NW_021160007.1:g.52750T>C

Select item 14901648665.

rs1490164866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132137239 (GRCh38)
12:132621784 (GRCh37)
Canonical SPDI:: NC_000012.12:132137238:A:G
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.001092/2 (Korea1K)
HGVS:: NC_000012.12:g.132137239A>G, NC_000012.11:g.132621784A>G, NW_021160007.1:g.44268A>G, NM_175066.4:c.*2033T>C, NM_175066.3:c.*2033T>C

Select item 14893322496.

rs1489332249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132138467 (GRCh38)
12:132623012 (GRCh37)
Canonical SPDI:: NC_000012.12:132138466:C:T
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.132138467C>T, NC_000012.11:g.132623012C>T, NW_021160007.1:g.45496C>T, NM_175066.4:c.*805G>A, NM_175066.3:c.*805G>A

Select item 14891789207.

rs1489178920 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:132146033 (GRCh38)
12:132630578 (GRCh37)
Canonical SPDI:: NC_000012.12:132146030:CACA:CA
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.132146031CA[1], NC_000012.11:g.132630576CA[1], NW_021160007.1:g.53060CA[1]

Select item 14890470378.

rs1489047037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132144853 (GRCh38)
12:132629398 (GRCh37)
Canonical SPDI:: NC_000012.12:132144852:G:A
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_acceptor_variant,2KB_upstream_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_000012.12:g.132144853G>A, NC_000012.11:g.132629398G>A, NW_021160007.1:g.51882G>A

Select item 14887845339.

rs1488784533 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:132143671 (GRCh38)
12:132628217 (GRCh37)
Canonical SPDI:: NC_000012.12:132143671:CCC:CCCC
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.132143674dup, NC_000012.11:g.132628219dup, NW_021160007.1:g.50703dup

Select item 148844175110.

rs1488441751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132138180 (GRCh38)
12:132622725 (GRCh37)
Canonical SPDI:: NC_000012.12:132138179:T:C
Gene:: DDX51 (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)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.132138180T>C, NC_000012.11:g.132622725T>C, NW_021160007.1:g.45209T>C, NM_175066.4:c.*1092A>G, NM_175066.3:c.*1092A>G

Select item 148835107211.

rs1488351072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132138646 (GRCh38)
12:132623191 (GRCh37)
Canonical SPDI:: NC_000012.12:132138645:T:C
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132138646T>C, NC_000012.11:g.132623191T>C, NW_021160007.1:g.45675T>C, NM_175066.4:c.*626A>G, NM_175066.3:c.*626A>G

Select item 148828167712.

rs1488281677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:132140356 (GRCh38)
12:132624901 (GRCh37)
Canonical SPDI:: NC_000012.12:132140355:G:A,NC_000012.12:132140355:G:T
Gene:: DDX51 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.132140356G>A, NC_000012.12:g.132140356G>T, NC_000012.11:g.132624901G>A, NC_000012.11:g.132624901G>T, NW_021160007.1:g.47385G>A, NW_021160007.1:g.47385G>T

Select item 148816566913.

rs1488165669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:132144507 (GRCh38)
12:132629052 (GRCh37)
Canonical SPDI:: NC_000012.12:132144506:G:C
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.132144507G>C, NC_000012.11:g.132629052G>C, NW_021160007.1:g.51536G>C, NM_024078.3:c.19G>C, NM_024078.2:c.19G>C, NM_024078.1:c.19G>C, XM_017019960.2:c.19G>C, XM_017019960.1:c.19G>C, XM_047429534.1:c.19G>C, NP_076983.1:p.Ala7Pro, XP_016875449.1:p.Ala7Pro, XP_047285490.1:p.Ala7Pro

Select item 148814602214.

rs1488146022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:132138608 (GRCh38)
12:132623153 (GRCh37)
Canonical SPDI:: NC_000012.12:132138607:T:A,NC_000012.12:132138607:T:C,NC_000012.12:132138607:T:G
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132138608T>A, NC_000012.12:g.132138608T>C, NC_000012.12:g.132138608T>G, NC_000012.11:g.132623153T>A, NC_000012.11:g.132623153T>C, NC_000012.11:g.132623153T>G, NW_021160007.1:g.45637T>A, NW_021160007.1:g.45637T>C, NW_021160007.1:g.45637T>G, NM_175066.4:c.*664A>T, NM_175066.4:c.*664A>G, NM_175066.4:c.*664A>C, NM_175066.3:c.*664A>T, NM_175066.3:c.*664A>G, NM_175066.3:c.*664A>C

Select item 148784969515.

rs1487849695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132137013 (GRCh38)
12:132621558 (GRCh37)
Canonical SPDI:: NC_000012.12:132137012:G:A
Gene:: DDX51 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132137013G>A, NC_000012.11:g.132621558G>A, NW_021160007.1:g.44042G>A, NM_175066.4:c.*2259C>T, NM_175066.3:c.*2259C>T

Select item 148757120316.

rs1487571203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTGGCACCCTACCAGT>- [Show Flanks]
Chromosome:: 12:132141040 (GRCh38)
12:132625585 (GRCh37)
Canonical SPDI:: NC_000012.12:132141037:GTTGCTGGCACCCTACCAGT:GT
Gene:: DDX51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132141040_132141057del, NC_000012.11:g.132625585_132625602del, NW_021160007.1:g.48069_48086del

Select item 148701899917.

rs1487018999 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 12:132141573 (GRCh38)
12:132626118 (GRCh37)
Canonical SPDI:: NC_000012.12:132141570:ACCAC:AC
Gene:: DDX51 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132141573_132141575del, NC_000012.11:g.132626118_132626120del, NW_021160007.1:g.48602_48604del, NM_175066.4:c.1029_1031del, NM_175066.3:c.1029_1031del, XM_011538256.2:c.1029_1031del, XM_011538256.1:c.1029_1031del, NP_778236.2:p.Val344del, XP_011536558.1:p.Val344del

Select item 148701184118.

rs1487011841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132139514 (GRCh38)
12:132624059 (GRCh37)
Canonical SPDI:: NC_000012.12:132139513:T:C
Gene:: DDX51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132139514T>C, NC_000012.11:g.132624059T>C, NW_021160007.1:g.46543T>C

Select item 148668273119.

rs1486682731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132142647 (GRCh38)
12:132627192 (GRCh37)
Canonical SPDI:: NC_000012.12:132142646:C:T
Gene:: NOC4L (Varview), DDX51 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.132142647C>T, NC_000012.11:g.132627192C>T, NW_021160007.1:g.49676C>T