SNP Links for Gene (Select 26808) - SNP

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Select item 14915357021.

rs1491535702 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 17:28720517 (GRCh38)
17:27047536 (GRCh37)
Canonical SPDI:: NC_000017.11:28720517::TAA
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720517_28720518insTAA, NC_000017.10:g.27047535_27047536insTAA

Select item 14912582742.

rs1491258274 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:28720517 (GRCh38)
17:27047535 (GRCh37)
Canonical SPDI:: NC_000017.11:28720516:TA:
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.28720517_28720518del, NC_000017.10:g.27047535_27047536del

Select item 14894733523.

rs1489473352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28719283 (GRCh38)
17:27046301 (GRCh37)
Canonical SPDI:: NC_000017.11:28719282:A:G
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28719283A>G, NC_000017.10:g.27046301A>G

Select item 14889283634.

rs1488928363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:28719436 (GRCh38)
17:27046455 (GRCh37)
Canonical SPDI:: NC_000017.11:28719436:T:TT
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28719437dup, NC_000017.10:g.27046455dup

Select item 14860024885.

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 14857057426.

rs1485705742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28719374 (GRCh38)
17:27046392 (GRCh37)
Canonical SPDI:: NC_000017.11:28719373:C:A
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28719374C>A, NC_000017.10:g.27046392C>A

Select item 14846750137.

rs1484675013 [Homo sapiens]

Variant type:: DEL
Alleles:: GAT>- [Show Flanks]
Chromosome:: 17:28719024 (GRCh38)
17:27046042 (GRCh37)
Canonical SPDI:: NC_000017.11:28719023:GAT:
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.28719024_28719026del, NC_000017.10:g.27046042_27046044del

Select item 14838773968.

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 14827400559.

rs1482740055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28720221 (GRCh38)
17:27047239 (GRCh37)
Canonical SPDI:: NC_000017.11:28720220:G:T
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (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.28720221G>T, NC_000017.10:g.27047239G>T

Select item 148202756610.

rs1482027566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28718859 (GRCh38)
17:27045877 (GRCh37)
Canonical SPDI:: NC_000017.11:28718858:C:G,NC_000017.11:28718858:C:T
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28718859C>G, NC_000017.11:g.28718859C>T, NC_000017.10:g.27045877C>G, NC_000017.10:g.27045877C>T

Select item 147842914011.

rs1478429140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:28720205 (GRCh38)
17:27047223 (GRCh37)
Canonical SPDI:: NC_000017.11:28720204:T:A,NC_000017.11:28720204:T:C
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28720205T>A, NC_000017.11:g.28720205T>C, NC_000017.10:g.27047223T>A, NC_000017.10:g.27047223T>C

Select item 147814754112.

rs1478147541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28719768 (GRCh38)
17:27046786 (GRCh37)
Canonical SPDI:: NC_000017.11:28719767:A:C
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 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_000017.11:g.28719768A>C, NC_000017.10:g.27046786A>C

Select item 147519343213.

rs1475193432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28719587 (GRCh38)
17:27046605 (GRCh37)
Canonical SPDI:: NC_000017.11:28719586:G:A
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28719587G>A, NC_000017.10:g.27046605G>A

Select item 147479498414.

rs1474794984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:28719009 (GRCh38)
17:27046027 (GRCh37)
Canonical SPDI:: NC_000017.11:28719008:T:A
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28719009T>A, NC_000017.10:g.27046027T>A

Select item 147391343815.

rs1473913438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28719065 (GRCh38)
17:27046083 (GRCh37)
Canonical SPDI:: NC_000017.11:28719064:G:T
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28719065G>T, NC_000017.10:g.27046083G>T

Select item 147367086416.

rs1473670864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28720113 (GRCh38)
17:27047131 (GRCh37)
Canonical SPDI:: NC_000017.11:28720112:G:C
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28720113G>C, NC_000017.10:g.27047131G>C

Select item 147362508217.

rs1473625082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28719982 (GRCh38)
17:27047000 (GRCh37)
Canonical SPDI:: NC_000017.11:28719981:A:G
Gene:: RPL23A (Varview), SNORD42B (Varview), RAB34 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.28719982A>G, NC_000017.10:g.27047000A>G, NM_000984.5:c.-24A>G

Select item 147165485918.

rs1471654859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:28720461 (GRCh38)
17:27047479 (GRCh37)
Canonical SPDI:: NC_000017.11:28720460:G:A,NC_000017.11:28720460:G:C,NC_000017.11:28720460:G:T
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28720461G>A, NC_000017.11:g.28720461G>C, NC_000017.11:g.28720461G>T, NC_000017.10:g.27047479G>A, NC_000017.10:g.27047479G>C, NC_000017.10:g.27047479G>T

Select item 147125988219.

rs1471259882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28720781 (GRCh38)
17:27047799 (GRCh37)
Canonical SPDI:: NC_000017.11:28720780:A:G
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28720781A>G, NC_000017.10:g.27047799A>G, NM_000984.6:c.100A>G, NM_000984.5:c.100A>G, NM_001093758.2:c.100A>G, NP_000975.2:p.Ser34Gly

Select item 147084083020.

rs1470840830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28721020 (GRCh38)
17:27048038 (GRCh37)
Canonical SPDI:: NC_000017.11:28721019:T:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28721020T>C, NC_000017.10:g.27048038T>C

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