SNP Links for Gene (Select 595100) - SNP

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Select item 14864465921.

rs1486446592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:66502587 (GRCh38)
15:66794925 (GRCh37)
Canonical SPDI:: NC_000015.10:66502586:C:A
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.66502587C>A, NC_000015.9:g.66794925C>A, NG_051234.1:g.229G>T

Select item 14861719042.

rs1486171904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66502289 (GRCh38)
15:66794627 (GRCh37)
Canonical SPDI:: NC_000015.10:66502288:G:A
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000015.10:g.66502289G>A, NC_000015.9:g.66794627G>A, NG_051234.1:g.527C>T

Select item 14831372153.

rs1483137215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66502756 (GRCh38)
15:66795094 (GRCh37)
Canonical SPDI:: NC_000015.10:66502755:T:C
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66502756T>C, NC_000015.9:g.66795094T>C, NG_051234.1:g.60A>G

Select item 14827012654.

rs1482701265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66502835 (GRCh38)
15:66795173 (GRCh37)
Canonical SPDI:: NC_000015.10:66502834:C:T
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66502835C>T, NC_000015.9:g.66795173C>T, NR_002440.1:n.76G>A

Select item 14813889445.

rs1481388944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:66501969 (GRCh38)
15:66794307 (GRCh37)
Canonical SPDI:: NC_000015.10:66501968:A:C
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66501969A>C, NC_000015.9:g.66794307A>C, NG_051234.1:g.847T>G

Select item 14813207636.

rs1481320763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:66502995 (GRCh38)
15:66795333 (GRCh37)
Canonical SPDI:: NC_000015.10:66502994:C:A
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_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_000015.10:g.66502995C>A, NC_000015.9:g.66795333C>A

Select item 14787658317.

rs1478765831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66502676 (GRCh38)
15:66795014 (GRCh37)
Canonical SPDI:: NC_000015.10:66502675:T:C
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.66502676T>C, NC_000015.9:g.66795014T>C, NG_051234.1:g.140A>G, NM_000968.4:c.357A>G, NM_000968.3:c.357A>G

Select item 14779268318.

rs1477926831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:66500775 (GRCh38)
15:66793114 (GRCh37)
Canonical SPDI:: NC_000015.10:66500775:T:TT
Gene:: RPL4 (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66500776dup, NC_000015.9:g.66793114dup, NG_051234.1:g.2040dup

Select item 14766220569.

rs1476622056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66502439 (GRCh38)
15:66794777 (GRCh37)
Canonical SPDI:: NC_000015.10:66502438:A:G
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_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_000015.10:g.66502439A>G, NC_000015.9:g.66794777A>G, NG_051234.1:g.377T>C

Select item 147465660710.

rs1474656607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:66501708 (GRCh38)
15:66794046 (GRCh37)
Canonical SPDI:: NC_000015.10:66501707:A:G,NC_000015.10:66501707:A:T
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66501708A>G, NC_000015.10:g.66501708A>T, NC_000015.9:g.66794046A>G, NC_000015.9:g.66794046A>T, NG_051234.1:g.1108T>C, NG_051234.1:g.1108T>A

Select item 147461767711.

rs1474617677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:66501589 (GRCh38)
15:66793927 (GRCh37)
Canonical SPDI:: NC_000015.10:66501588:A:T
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_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_000015.10:g.66501589A>T, NC_000015.9:g.66793927A>T, NG_051234.1:g.1227T>A

Select item 147187354512.

rs1471873545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:66503194 (GRCh38)
15:66795532 (GRCh37)
Canonical SPDI:: NC_000015.10:66503193:C:A,NC_000015.10:66503193:C:T
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66503194C>A, NC_000015.10:g.66503194C>T, NC_000015.9:g.66795532C>A, NC_000015.9:g.66795532C>T

Select item 147111876613.

rs1471118766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66502303 (GRCh38)
15:66794641 (GRCh37)
Canonical SPDI:: NC_000015.10:66502302:G:A
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.66502303G>A, NC_000015.9:g.66794641G>A, NG_051234.1:g.513C>T

Select item 147093005114.

rs1470930051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66503245 (GRCh38)
15:66795583 (GRCh37)
Canonical SPDI:: NC_000015.10:66503244:C:T
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66503245C>T, NC_000015.9:g.66795583C>T, NR_002441.1:n.70G>A

Select item 146971440815.

rs1469714408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66502544 (GRCh38)
15:66794882 (GRCh37)
Canonical SPDI:: NC_000015.10:66502543:A:G
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.66502544A>G, NC_000015.9:g.66794882A>G, NG_051234.1:g.272T>C

Select item 146842940116.

rs1468429401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66501716 (GRCh38)
15:66794054 (GRCh37)
Canonical SPDI:: NC_000015.10:66501715:T:C
Gene:: RPL4 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.66501716T>C, NC_000015.9:g.66794054T>C, NG_051234.1:g.1100A>G

Select item 146819603817.

rs1468196038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:66502358 (GRCh38)
15:66794696 (GRCh37)
Canonical SPDI:: NC_000015.10:66502357:G:C,NC_000015.10:66502357:G:T
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.66502358G>C, NC_000015.10:g.66502358G>T, NC_000015.9:g.66794696G>C, NC_000015.9:g.66794696G>T, NG_051234.1:g.458C>G, NG_051234.1:g.458C>A

Select item 146813570018.

rs1468135700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:66502540 (GRCh38)
15:66794878 (GRCh37)
Canonical SPDI:: NC_000015.10:66502539:A:T
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_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_000015.10:g.66502540A>T, NC_000015.9:g.66794878A>T, NG_051234.1:g.276T>A

Select item 146715965019.

rs1467159650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66500853 (GRCh38)
15:66793191 (GRCh37)
Canonical SPDI:: NC_000015.10:66500852:G:A
Gene:: RPL4 (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.66500853G>A, NC_000015.9:g.66793191G>A, NG_051234.1:g.1963C>T

Select item 146667181820.

rs1466671818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66502903 (GRCh38)
15:66795241 (GRCh37)
Canonical SPDI:: NC_000015.10:66502902:T:C
Gene:: RPL4 (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview), SNORD18C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.66502903T>C, NC_000015.9:g.66795241T>C, NR_002440.1:n.8A>G