SNP Links for Gene (Select 26773) - SNP

Links from Gene

Items: 1 to 20 of 857

<< First< Prev

Page of 43

Next >Last >>

Select item 14915217251.

rs1491521725 has merged into rs57128027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:28722256 (GRCh38)
17:27049274 (GRCh37)
Canonical SPDI:: NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.28722256_28722263del, NC_000017.11:g.28722257_28722263del, NC_000017.11:g.28722258_28722263del, NC_000017.11:g.28722259_28722263del, NC_000017.11:g.28722260_28722263del, NC_000017.11:g.28722261_28722263del, NC_000017.11:g.28722262_28722263del, NC_000017.11:g.28722263del, NC_000017.11:g.28722263dup, NC_000017.11:g.28722262_28722263dup, NC_000017.10:g.27049274_27049281del, NC_000017.10:g.27049275_27049281del, NC_000017.10:g.27049276_27049281del, NC_000017.10:g.27049277_27049281del, NC_000017.10:g.27049278_27049281del, NC_000017.10:g.27049279_27049281del, NC_000017.10:g.27049280_27049281del, NC_000017.10:g.27049281del, NC_000017.10:g.27049281dup, NC_000017.10:g.27049280_27049281dup

Select item 14902506392.

rs1490250639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28721622 (GRCh38)
17:27048640 (GRCh37)
Canonical SPDI:: NC_000017.11:28721621:T:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.28721622T>C, NC_000017.10:g.27048640T>C

Select item 14899968123.

rs1489996812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:28721348 (GRCh38)
17:27048367 (GRCh37)
Canonical SPDI:: NC_000017.11:28721348:T:TT
Gene:: RPL23A (Varview), SNORD4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28721349dup, NC_000017.10:g.27048367dup

Select item 14881943494.

rs1488194349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28723153 (GRCh38)
17:27050171 (GRCh37)
Canonical SPDI:: NC_000017.11:28723152:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28723153G>A, NC_000017.10:g.27050171G>A

Select item 14865699095.

rs1486569909 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,GA [Show Flanks]
Chromosome:: 17:28723112 (GRCh38)
17:27050131 (GRCh37)
Canonical SPDI:: NC_000017.11:28723112::A,NC_000017.11:28723112::GA
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000142/19 (GnomAD)
HGVS:: NC_000017.11:g.28723112_28723113insA, NC_000017.11:g.28723112_28723113insGA, NC_000017.10:g.27050130_27050131insA, NC_000017.10:g.27050130_27050131insGA

Select item 14860024886.

rs1486002488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28720714 (GRCh38)
17:27047732 (GRCh37)
Canonical SPDI:: NC_000017.11:28720713:C:T
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28720714C>T, NC_000017.10:g.27047732C>T, NM_000984.6:c.33C>T, NM_000984.5:c.33C>T, NM_001093758.2:c.33C>T

Select item 14859724597.

rs1485972459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28721365 (GRCh38)
17:27048383 (GRCh37)
Canonical SPDI:: NC_000017.11:28721364:A:C
Gene:: RPL23A (Varview), SNORD4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.28721365A>C, NC_000017.10:g.27048383A>C

Select item 14857582158.

rs1485758215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28721182 (GRCh38)
17:27048200 (GRCh37)
Canonical SPDI:: NC_000017.11:28721181:G:A
Gene:: RPL23A (Varview), SNORD4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28721182G>A, NC_000017.10:g.27048200G>A

Select item 14840787379.

rs1484078737 has merged into rs57128027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:28722256 (GRCh38)
17:27049274 (GRCh37)
Canonical SPDI:: NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.28722256_28722263del, NC_000017.11:g.28722257_28722263del, NC_000017.11:g.28722258_28722263del, NC_000017.11:g.28722259_28722263del, NC_000017.11:g.28722260_28722263del, NC_000017.11:g.28722261_28722263del, NC_000017.11:g.28722262_28722263del, NC_000017.11:g.28722263del, NC_000017.11:g.28722263dup, NC_000017.11:g.28722262_28722263dup, NC_000017.10:g.27049274_27049281del, NC_000017.10:g.27049275_27049281del, NC_000017.10:g.27049276_27049281del, NC_000017.10:g.27049277_27049281del, NC_000017.10:g.27049278_27049281del, NC_000017.10:g.27049279_27049281del, NC_000017.10:g.27049280_27049281del, NC_000017.10:g.27049281del, NC_000017.10:g.27049281dup, NC_000017.10:g.27049280_27049281dup

Select item 148387739610.

rs1483877396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28720925 (GRCh38)
17:27047943 (GRCh37)
Canonical SPDI:: NC_000017.11:28720924:G:T
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720925G>T, NC_000017.10:g.27047943G>T

Select item 148351400611.

rs1483514006 has merged into rs57128027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:28722256 (GRCh38)
17:27049274 (GRCh37)
Canonical SPDI:: NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28722245:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.28722256_28722263del, NC_000017.11:g.28722257_28722263del, NC_000017.11:g.28722258_28722263del, NC_000017.11:g.28722259_28722263del, NC_000017.11:g.28722260_28722263del, NC_000017.11:g.28722261_28722263del, NC_000017.11:g.28722262_28722263del, NC_000017.11:g.28722263del, NC_000017.11:g.28722263dup, NC_000017.11:g.28722262_28722263dup, NC_000017.10:g.27049274_27049281del, NC_000017.10:g.27049275_27049281del, NC_000017.10:g.27049276_27049281del, NC_000017.10:g.27049277_27049281del, NC_000017.10:g.27049278_27049281del, NC_000017.10:g.27049279_27049281del, NC_000017.10:g.27049280_27049281del, NC_000017.10:g.27049281del, NC_000017.10:g.27049281dup, NC_000017.10:g.27049280_27049281dup

Select item 148296945112.

rs1482969451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28722570 (GRCh38)
17:27049588 (GRCh37)
Canonical SPDI:: NC_000017.11:28722569:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722570C>T, NC_000017.10:g.27049588C>T

Select item 148153261913.

rs1481532619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28721511 (GRCh38)
17:27048529 (GRCh37)
Canonical SPDI:: NC_000017.11:28721510:G:A,NC_000017.11:28721510:G:T
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28721511G>A, NC_000017.11:g.28721511G>T, NC_000017.10:g.27048529G>A, NC_000017.10:g.27048529G>T

Select item 147973196114.

rs1479731961 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGAGCGGAG [Show Flanks]
Chromosome:: 17:28721294 (GRCh38)
17:27048313 (GRCh37)
Canonical SPDI:: NC_000017.11:28721294:GGTGAGCGGAG:GGTGAGCGGAGGTGAGCGGAG
Gene:: RPL23A (Varview), SNORD4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGTGAGCGGAGGTGAGCGGAG=0.000071/1 (ALFA)
GGTGAGCGGA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28721296_28721305dup, NC_000017.10:g.27048314_27048323dup

Select item 147876075715.

rs1478760757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28722891 (GRCh38)
17:27049909 (GRCh37)
Canonical SPDI:: NC_000017.11:28722890:C:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28722891C>G, NC_000017.10:g.27049909C>G, NM_000984.6:c.378C>G, NM_000984.5:c.378C>G, NM_001093758.2:c.378C>G

Select item 147814714516.

rs1478147145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:28722056 (GRCh38)
17:27049074 (GRCh37)
Canonical SPDI:: NC_000017.11:28722055:T:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28722056T>G, NC_000017.10:g.27049074T>G

Select item 147783034517.

rs1477830345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28722410 (GRCh38)
17:27049428 (GRCh37)
Canonical SPDI:: NC_000017.11:28722409:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28722410C>T, NC_000017.10:g.27049428C>T

Select item 147306051118.

rs1473060511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28722923 (GRCh38)
17:27049941 (GRCh37)
Canonical SPDI:: NC_000017.11:28722922:G:C
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722923G>C, NC_000017.10:g.27049941G>C

Select item 147302050219.

rs1473020502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28723135 (GRCh38)
17:27050153 (GRCh37)
Canonical SPDI:: NC_000017.11:28723134:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_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_000017.11:g.28723135C>T, NC_000017.10:g.27050153C>T

Select item 147152266120.

rs1471522661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATCCCCT [Show Flanks]
Chromosome:: 17:28723131 (GRCh38)
17:27050150 (GRCh37)
Canonical SPDI:: NC_000017.11:28723131:AATCCCCT:AATCCCCTAATCCCCT
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AATCCCCTAATCCCCT=0./0 (ALFA)
AATCCCCT=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28723132_28723139dup, NC_000017.10:g.27050150_27050157dup

<< First< Prev

Page of 43

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 857

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity