SNP Links for Gene (Select 116938) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 926

<< First< Prev

Page of 47

Next >Last >>

Select item 14905636381.

rs1490563638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:39315003 (GRCh38)
22:39711008 (GRCh37)
Canonical SPDI:: NC_000022.11:39315002:G:C,NC_000022.11:39315002:G:T
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.39315003G>C, NC_000022.11:g.39315003G>T, NC_000022.10:g.39711008G>C, NC_000022.10:g.39711008G>T

Select item 14903516652.

rs1490351665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 22:39315798 (GRCh38)
22:39711804 (GRCh37)
Canonical SPDI:: NC_000022.11:39315798:ACA:ACACA
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
AC=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.39315800_39315801dup, NC_000022.10:g.39711805_39711806dup

Select item 14902367163.

rs1490236716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39314194 (GRCh38)
22:39710199 (GRCh37)
Canonical SPDI:: NC_000022.11:39314193:G:A
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_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_000022.11:g.39314194G>A, NC_000022.10:g.39710199G>A, NM_000967.4:c.864C>T, NM_000967.3:c.864C>T, NM_001033853.2:c.717C>T, NM_001033853.1:c.717C>T

Select item 14902001394.

rs1490200139 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:39315084 (GRCh38)
22:39711089 (GRCh37)
Canonical SPDI:: NC_000022.11:39315083:GGG:GG
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39315086del, NC_000022.10:g.39711091del

Select item 14901872455.

rs1490187245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39314942 (GRCh38)
22:39710947 (GRCh37)
Canonical SPDI:: NC_000022.11:39314941:G:A
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39314942G>A, NC_000022.10:g.39710947G>A

Select item 14896995036.

rs1489699503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39314458 (GRCh38)
22:39710463 (GRCh37)
Canonical SPDI:: NC_000022.11:39314457:T:C
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000045/12 (TOPMED)
HGVS:: NC_000022.11:g.39314458T>C, NC_000022.10:g.39710463T>C

Select item 14889462957.

rs1488946295 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:39314003 (GRCh38)
22:39710008 (GRCh37)
Canonical SPDI:: NC_000022.11:39313999:TGTGT:TGT
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39314001GT[1], NC_000022.10:g.39710006GT[1]

Select item 14887490018.

rs1488749001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:39313456 (GRCh38)
22:39709461 (GRCh37)
Canonical SPDI:: NC_000022.11:39313455:A:G,NC_000022.11:39313455:A:T
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.39313456A>G, NC_000022.11:g.39313456A>T, NC_000022.10:g.39709461A>G, NC_000022.10:g.39709461A>T

Select item 14883589559.

rs1488358955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39313493 (GRCh38)
22:39709498 (GRCh37)
Canonical SPDI:: NC_000022.11:39313492:C:T
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39313493C>T, NC_000022.10:g.39709498C>T

Select item 148715686710.

rs1487156867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39313612 (GRCh38)
22:39709617 (GRCh37)
Canonical SPDI:: NC_000022.11:39313611:G:A
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.39313612G>A, NC_000022.10:g.39709617G>A

Select item 148449190211.

rs1484491902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39314707 (GRCh38)
22:39710712 (GRCh37)
Canonical SPDI:: NC_000022.11:39314706:G:A
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39314707G>A, NC_000022.10:g.39710712G>A, NM_000967.4:c.828C>T, NM_000967.3:c.828C>T, NM_001033853.2:c.681C>T, NM_001033853.1:c.681C>T

Select item 148217095212.

rs1482170952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39313512 (GRCh38)
22:39709517 (GRCh37)
Canonical SPDI:: NC_000022.11:39313511:T:C
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39313512T>C, NC_000022.10:g.39709517T>C

Select item 148095611313.

rs1480956113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39315312 (GRCh38)
22:39711317 (GRCh37)
Canonical SPDI:: NC_000022.11:39315311:C:T
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000022.11:g.39315312C>T, NC_000022.10:g.39711317C>T

Select item 148042609014.

rs1480426090 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 22:39313550 (GRCh38)
22:39709555 (GRCh37)
Canonical SPDI:: NC_000022.11:39313546:CTCTC:CTC
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39313548TC[1], NC_000022.10:g.39709553TC[1]

Select item 148029498015.

rs1480294980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39314167 (GRCh38)
22:39710172 (GRCh37)
Canonical SPDI:: NC_000022.11:39314166:C:T
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.39314167C>T, NC_000022.10:g.39710172C>T, NM_000967.4:c.891G>A, NM_000967.3:c.891G>A, NM_001033853.2:c.744G>A, NM_001033853.1:c.744G>A

Select item 148007202716.

rs1480072027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39314810 (GRCh38)
22:39710815 (GRCh37)
Canonical SPDI:: NC_000022.11:39314809:C:T
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000122/5 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.39314810C>T, NC_000022.10:g.39710815C>T, NM_000967.4:c.725G>A, NM_000967.3:c.725G>A, NM_001033853.2:c.578G>A, NM_001033853.1:c.578G>A, NP_000958.1:p.Arg242His, NP_001029025.1:p.Arg193His

Select item 147934335217.

rs1479343352 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:39314537 (GRCh38)
22:39710542 (GRCh37)
Canonical SPDI:: NC_000022.11:39314536:GGG:GG
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39314539del, NC_000022.10:g.39710544del

Select item 147932274218.

rs1479322742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39314813 (GRCh38)
22:39710818 (GRCh37)
Canonical SPDI:: NC_000022.11:39314812:G:A
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39314813G>A, NC_000022.10:g.39710818G>A, NM_000967.4:c.722C>T, NM_000967.3:c.722C>T, NM_001033853.2:c.575C>T, NM_001033853.1:c.575C>T, NP_000958.1:p.Pro241Leu, NP_001029025.1:p.Pro192Leu

Select item 147873439719.

rs1478734397 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:39314897 (GRCh38)
22:39710902 (GRCh37)
Canonical SPDI:: NC_000022.11:39314896:CCCC:CCC
Gene:: RPL3 (Varview), SNORD83A (Varview), SNORD83B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000022.11:g.39314900del, NC_000022.10:g.39710905del

Select item 147866721320.

rs1478667213 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 22:39313834 (GRCh38)
22:39709839 (GRCh37)
Canonical SPDI:: NC_000022.11:39313828:GAAGGAAGG:GAAGG
Gene:: RPL3 (Varview), SNORD83B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGG=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.39313830AAGG[1], NC_000022.10:g.39709835AAGG[1], NR_000028.1:n.76CTTC[1]