SNP Links for Gene (Select 26796) - SNP

Links from Gene

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Select item 14864780071.

rs1486478007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:28927074 (GRCh38)
2:29149940 (GRCh37)
Canonical SPDI:: NC_000002.12:28927073:G:T
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.28927074G>T, NC_000002.11:g.29149940G>T, NR_002741.3:n.8G>T, NR_002741.2:n.8G>T, NR_002741.1:n.8G>T

Select item 14847474772.

rs1484747477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28925892 (GRCh38)
2:29148758 (GRCh37)
Canonical SPDI:: NC_000002.12:28925891:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.28925892A>G, NC_000002.11:g.29148758A>G

Select item 14799700673.

rs1479970067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:28926109 (GRCh38)
2:29148975 (GRCh37)
Canonical SPDI:: NC_000002.12:28926108:A:C
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.28926109A>C, NC_000002.11:g.29148975A>C

Select item 14784734184.

rs1478473418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:28925479 (GRCh38)
2:29148345 (GRCh37)
Canonical SPDI:: NC_000002.12:28925478:C:G
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,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_000002.12:g.28925479C>G, NC_000002.11:g.29148345C>G

Select item 14776070165.

rs1477607016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:28926434 (GRCh38)
2:29149300 (GRCh37)
Canonical SPDI:: NC_000002.12:28926433:C:T
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000084/11 (GnomAD_exomes)
HGVS:: NC_000002.12:g.28926434C>T, NC_000002.11:g.29149300C>T

Select item 14765399626.

rs1476539962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28926822 (GRCh38)
2:29149688 (GRCh37)
Canonical SPDI:: NC_000002.12:28926821:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.28926822A>G, NC_000002.11:g.29149688A>G

Select item 14759702407.

rs1475970240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:28927119 (GRCh38)
2:29149985 (GRCh37)
Canonical SPDI:: NC_000002.12:28927118:C:T
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.28927119C>T, NC_000002.11:g.29149985C>T, NR_002741.3:n.53C>T, NR_002741.2:n.53C>T, NR_002741.1:n.53C>T

Select item 14752978758.

rs1475297875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28925588 (GRCh38)
2:29148454 (GRCh37)
Canonical SPDI:: NC_000002.12:28925587:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: intron_variant,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_000002.12:g.28925588A>G, NC_000002.11:g.29148454A>G

Select item 14747583999.

rs1474758399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28926793 (GRCh38)
2:29149659 (GRCh37)
Canonical SPDI:: NC_000002.12:28926792:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.28926793A>G, NC_000002.11:g.29149659A>G

Select item 147282479710.

rs1472824797 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 2:28925804 (GRCh38)
2:29148670 (GRCh37)
Canonical SPDI:: NC_000002.12:28925801:AATAA:AA
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.28925804_28925806del, NC_000002.11:g.29148670_29148672del

Select item 147180040611.

rs1471800406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:28927409 (GRCh38)
2:29150275 (GRCh37)
Canonical SPDI:: NC_000002.12:28927408:T:A,NC_000002.12:28927408:T:C
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.28927409T>A, NC_000002.12:g.28927409T>C, NC_000002.11:g.29150275T>A, NC_000002.11:g.29150275T>C

Select item 147085663212.

rs1470856632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:28926589 (GRCh38)
2:29149455 (GRCh37)
Canonical SPDI:: NC_000002.12:28926588:A:C,NC_000002.12:28926588:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.28926589A>C, NC_000002.12:g.28926589A>G, NC_000002.11:g.29149455A>C, NC_000002.11:g.29149455A>G

Select item 146983559813.

rs1469835598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:28927462 (GRCh38)
2:29150328 (GRCh37)
Canonical SPDI:: NC_000002.12:28927461:G:C
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.28927462G>C, NC_000002.11:g.29150328G>C

Select item 146826449714.

rs1468264497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:28926360 (GRCh38)
2:29149226 (GRCh37)
Canonical SPDI:: NC_000002.12:28926359:C:G
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.28926360C>G, NC_000002.11:g.29149226C>G

Select item 146675109315.

rs1466751093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28925510 (GRCh38)
2:29148376 (GRCh37)
Canonical SPDI:: NC_000002.12:28925509:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.28925510A>G, NC_000002.11:g.29148376A>G

Select item 146619103516.

rs1466191035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:28925564 (GRCh38)
2:29148430 (GRCh37)
Canonical SPDI:: NC_000002.12:28925563:T:A
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.28925564T>A, NC_000002.11:g.29148430T>A

Select item 146614644317.

rs1466146443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:28926439 (GRCh38)
2:29149305 (GRCh37)
Canonical SPDI:: NC_000002.12:28926438:C:T
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0016/14 (ALFA)
HGVS:: NC_000002.12:g.28926439C>T, NC_000002.11:g.29149305C>T

Select item 146601771918.

rs1466017719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:28927163 (GRCh38)
2:29150029 (GRCh37)
Canonical SPDI:: NC_000002.12:28927162:T:C
Gene:: WDR43 (Varview), SNORD53 (Varview), SNORD53B (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.28927163T>C, NC_000002.11:g.29150029T>C

Select item 146536445419.

rs1465364454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:28925178 (GRCh38)
2:29148044 (GRCh37)
Canonical SPDI:: NC_000002.12:28925177:A:C
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.28925178A>C, NC_000002.11:g.29148044A>C

Select item 146358461220.

rs1463584612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:28925070 (GRCh38)
2:29147936 (GRCh37)
Canonical SPDI:: NC_000002.12:28925069:A:G
Gene:: WDR43 (Varview), SNORD53 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.28925070A>G, NC_000002.11:g.29147936A>G, NM_015131.3:c.1003A>G, NM_015131.2:c.1003A>G, NM_015131.1:c.1003A>G, NP_055946.1:p.Ile335Val

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