SNP Links for Gene (Select 26772) - SNP

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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 14881943492.

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 14871552483.

rs1487155248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28723533 (GRCh38)
17:27050551 (GRCh37)
Canonical SPDI:: NC_000017.11:28723532:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28723533G>A, NC_000017.10:g.27050551G>A

Select item 14865699094.

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 14857387125.

rs1485738712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28724157 (GRCh38)
17:27051175 (GRCh37)
Canonical SPDI:: NC_000017.11:28724156:A:G
Gene:: RPL23A (Varview), SNORD4B (Varview), TLCD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_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_000017.11:g.28724157A>G, NC_000017.10:g.27051175A>G, NG_012263.1:g.344A>G, NM_000984.6:c.*276A>G, NM_000984.5:c.*276A>G

Select item 14840787376.

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 14838258637.

rs1483825863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28723613 (GRCh38)
17:27050631 (GRCh37)
Canonical SPDI:: NC_000017.11:28723612:T:C
Gene:: RPL23A (Varview), SNORD4B (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
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28723613T>C, NC_000017.10:g.27050631T>C, NM_000984.6:c.429T>C, NM_000984.5:c.429T>C, NM_001093758.2:c.429T>C

Select item 14835140068.

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 14829694519.

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 148279821210.

rs1482798212 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 17:28723807 (GRCh38)
17:27050825 (GRCh37)
Canonical SPDI:: NC_000017.11:28723805:AACA:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD42A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28723807_28723809del, NC_000017.10:g.27050825_27050827del

Select item 148246422911.

rs1482464229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28723455 (GRCh38)
17:27050473 (GRCh37)
Canonical SPDI:: NC_000017.11:28723454:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28723455G>A, NC_000017.10:g.27050473G>A, NR_000014.2:n.25G>A, NR_000014.1:n.26G>A

Select item 147876075712.

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 147814714513.

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 147784904114.

rs1477849041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28723978 (GRCh38)
17:27050996 (GRCh37)
Canonical SPDI:: NC_000017.11:28723977:C:G,NC_000017.11:28723977:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD42A (Varview), TLCD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28723978C>G, NC_000017.11:g.28723978C>T, NC_000017.10:g.27050996C>G, NC_000017.10:g.27050996C>T, NG_012263.1:g.165C>G, NG_012263.1:g.165C>T, NM_000984.6:c.*97C>G, NM_000984.6:c.*97C>T, NM_000984.5:c.*97C>G, NM_000984.5:c.*97C>T

Select item 147783034515.

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 147576504516.

rs1475765045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28723516 (GRCh38)
17:27050534 (GRCh37)
Canonical SPDI:: NC_000017.11:28723515:G:T
Gene:: RPL23A (Varview), SNORD4B (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.28723516G>T, NC_000017.10:g.27050534G>T

Select item 147306051117.

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 147302050218.

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 147207825619.

rs1472078256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28723618 (GRCh38)
17:27050636 (GRCh37)
Canonical SPDI:: NC_000017.11:28723617:A:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD42A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28723618A>G, NC_000017.10:g.27050636A>G, NM_000984.6:c.434A>G, NM_000984.5:c.434A>G, NM_001093758.2:c.434A>G, NP_000975.2:p.Asp145Gly

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

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