SNP Links for Gene (Select 595097) - SNP

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Select item 14885603221.

rs1488560322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66504751 (GRCh38)
15:66797089 (GRCh37)
Canonical SPDI:: NC_000015.10:66504750:A:G
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66504751A>G, NC_000015.9:g.66797089A>G

Select item 14885095512.

rs1488509551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:66503933 (GRCh38)
15:66796271 (GRCh37)
Canonical SPDI:: NC_000015.10:66503932:A:G,NC_000015.10:66503932:A:T
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.66503933A>G, NC_000015.10:g.66503933A>T, NC_000015.9:g.66796271A>G, NC_000015.9:g.66796271A>T

Select item 14877525943.

rs1487752594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:66504053 (GRCh38)
15:66796392 (GRCh37)
Canonical SPDI:: NC_000015.10:66504053:TT:TTT
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66504055dup, NC_000015.9:g.66796393dup

Select item 14866299054.

rs1486629905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66503681 (GRCh38)
15:66796019 (GRCh37)
Canonical SPDI:: NC_000015.10:66503680:A:G
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000015.10:g.66503681A>G, NC_000015.9:g.66796019A>G

Select item 14864465925.

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 14843410166.

rs1484341016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:66504621 (GRCh38)
15:66796959 (GRCh37)
Canonical SPDI:: NC_000015.10:66504620:G:A,NC_000015.10:66504620:G:C
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.005459/10 (Korea1K)
HGVS:: NC_000015.10:g.66504621G>A, NC_000015.10:g.66504621G>C, NC_000015.9:g.66796959G>A, NC_000015.9:g.66796959G>C

Select item 14841008147.

rs1484100814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:66504600 (GRCh38)
15:66796938 (GRCh37)
Canonical SPDI:: NC_000015.10:66504599:C:A
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.66504600C>A, NC_000015.9:g.66796938C>A

Select item 14833548668.

rs1483354866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:66504516 (GRCh38)
15:66796854 (GRCh37)
Canonical SPDI:: NC_000015.10:66504515:A:G
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.66504516A>G, NC_000015.9:g.66796854A>G

Select item 14831372159.

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 148303151310.

rs1483031513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:66504162 (GRCh38)
15:66796500 (GRCh37)
Canonical SPDI:: NC_000015.10:66504161:T:A,NC_000015.10:66504161:T:C
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.66504162T>A, NC_000015.10:g.66504162T>C, NC_000015.9:g.66796500T>A, NC_000015.9:g.66796500T>C

Select item 148270126511.

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 148214409312.

rs1482144093 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:66503825 (GRCh38)
15:66796163 (GRCh37)
Canonical SPDI:: NC_000015.10:66503824:AT:
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66503825_66503826del, NC_000015.9:g.66796163_66796164del

Select item 148132076313.

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 147942180114.

rs1479421801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66503847 (GRCh38)
15:66796185 (GRCh37)
Canonical SPDI:: NC_000015.10:66503846:C:T
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66503847C>T, NC_000015.9:g.66796185C>T

Select item 147891966815.

rs1478919668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66503860 (GRCh38)
15:66796198 (GRCh37)
Canonical SPDI:: NC_000015.10:66503859:C:T
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.66503860C>T, NC_000015.9:g.66796198C>T

Select item 147876583116.

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 147784262417.

rs1477842624 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 15:66503599 (GRCh38)
15:66795937 (GRCh37)
Canonical SPDI:: NC_000015.10:66503595:CAACAA:CAA
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAACAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66503596CAA[1], NC_000015.9:g.66795934CAA[1]

Select item 147773068818.

rs1477730688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66504497 (GRCh38)
15:66796835 (GRCh37)
Canonical SPDI:: NC_000015.10:66504496:G:A
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66504497G>A, NC_000015.9:g.66796835G>A

Select item 147669643319.

rs1476696433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:66503443 (GRCh38)
15:66795781 (GRCh37)
Canonical SPDI:: NC_000015.10:66503442:A:T
Gene:: RPL4 (Varview), ZWILCH (Varview), SNORD16 (Varview), SNORD18A (Varview), SNORD18B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66503443A>T, NC_000015.9:g.66795781A>T, NM_000968.4:c.90T>A, NM_000968.3:c.90T>A

Select item 147662205620.

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

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