SNP Links for Nucleotide (Select 1172999062) - SNP

Variant type:: INS
Alleles:: ->CCAC [Show Flanks]
Chromosome:: 3:23917319 (GRCh38)
3:23958811 (GRCh37)
Canonical SPDI:: NC_000003.12:23917319::CCAC
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCAC=0./0 (ALFA)
CCAC=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.23917319_23917320insCCAC, NC_000003.11:g.23958810_23958811insCCAC, NG_033850.2:g.5775_5776insCCAC, NM_001253380.2:c.-541_-540insCCAC, NG_082949.1:g.775_776insCCAC

Select item 14852276998.

rs1485227699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:23917137 (GRCh38)
3:23958628 (GRCh37)
Canonical SPDI:: NC_000003.12:23917136:T:A,NC_000003.12:23917136:T:C,NC_000003.12:23917136:T:G
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.23917137T>A, NC_000003.12:g.23917137T>C, NC_000003.12:g.23917137T>G, NC_000003.11:g.23958628T>A, NC_000003.11:g.23958628T>C, NC_000003.11:g.23958628T>G, NG_033850.2:g.5593T>A, NG_033850.2:g.5593T>C, NG_033850.2:g.5593T>G, NM_002948.5:c.-47T>A, NM_002948.5:c.-47T>C, NM_002948.5:c.-47T>G, NM_002948.4:c.-47T>A, NM_002948.4:c.-47T>C, NM_002948.4:c.-47T>G, NM_002948.3:c.-47T>A, NM_002948.3:c.-47T>C, NM_002948.3:c.-47T>G, NM_001253383.3:c.-113T>A, NM_001253383.3:c.-113T>C, NM_001253383.3:c.-113T>G, NM_001253383.2:c.-113T>A, NM_001253383.2:c.-113T>C, NM_001253383.2:c.-113T>G, NM_001253383.1:c.-113T>A, NM_001253383.1:c.-113T>C, NM_001253383.1:c.-113T>G, NM_001253384.2:c.-47T>A, NM_001253384.2:c.-47T>C, NM_001253384.2:c.-47T>G, NM_001253384.1:c.-47T>A, NM_001253384.1:c.-47T>C, NM_001253384.1:c.-47T>G, NM_001253380.2:c.-723T>A, NM_001253380.2:c.-723T>C, NM_001253380.2:c.-723T>G, NM_001253379.2:c.-60T>A, NM_001253379.2:c.-60T>C, NM_001253379.2:c.-60T>G, NM_001253379.1:c.-60T>A, NM_001253379.1:c.-60T>C, NM_001253379.1:c.-60T>G, NM_001253382.2:c.-169T>A, NM_001253382.2:c.-169T>C, NM_001253382.2:c.-169T>G, NG_082949.1:g.593T>A, NG_082949.1:g.593T>C, NG_082949.1:g.593T>G

Select item 14848286469.

rs1484828646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:23917306 (GRCh38)
3:23958797 (GRCh37)
Canonical SPDI:: NC_000003.12:23917305:G:C,NC_000003.12:23917305:G:T
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.23917306G>C, NC_000003.12:g.23917306G>T, NC_000003.11:g.23958797G>C, NC_000003.11:g.23958797G>T, NG_033850.2:g.5762G>C, NG_033850.2:g.5762G>T, NM_001253380.2:c.-554G>C, NM_001253380.2:c.-554G>T, NG_082949.1:g.762G>C, NG_082949.1:g.762G>T

Select item 148460091810.

rs1484600918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:23920079 (GRCh38)
3:23961570 (GRCh37)
Canonical SPDI:: NC_000003.12:23920078:T:A
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_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_000003.12:g.23920079T>A, NC_000003.11:g.23961570T>A, NG_033850.2:g.8535T>A, NM_002948.5:c.*578T>A, NM_002948.4:c.*578T>A, NM_002948.3:c.*578T>A, NM_001253383.3:c.*578T>A, NM_001253383.2:c.*578T>A, NM_001253383.1:c.*578T>A, NM_001253380.2:c.*578T>A, NM_001253380.1:c.*578T>A, NM_001253379.2:c.*578T>A, NM_001253379.1:c.*578T>A, NM_001253382.2:c.*578T>A, NM_001253382.1:c.*578T>A

Select item 148159103711.

rs1481591037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:23920086 (GRCh38)
3:23961577 (GRCh37)
Canonical SPDI:: NC_000003.12:23920085:G:A
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.23920086G>A, NC_000003.11:g.23961577G>A, NG_033850.2:g.8542G>A, NM_002948.5:c.*585G>A, NM_002948.4:c.*585G>A, NM_002948.3:c.*585G>A, NM_001253383.3:c.*585G>A, NM_001253383.2:c.*585G>A, NM_001253383.1:c.*585G>A, NM_001253380.2:c.*585G>A, NM_001253380.1:c.*585G>A, NM_001253379.2:c.*585G>A, NM_001253379.1:c.*585G>A, NM_001253382.2:c.*585G>A, NM_001253382.1:c.*585G>A

Select item 148061016812.

rs1480610168 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:23920856 (GRCh38)
3:23962347 (GRCh37)
Canonical SPDI:: NC_000003.12:23920854:TCT:T
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.23920856_23920857del, NC_000003.11:g.23962347_23962348del, NG_033850.2:g.9312_9313del, NM_002948.5:c.*1355_*1356del, NM_002948.4:c.*1355_*1356del, NM_002948.3:c.*1355_*1356insT, NM_002948.3:c.*1355del, NM_001253383.3:c.*1355_*1356del, NM_001253383.2:c.*1355_*1356del, NM_001253383.1:c.*1355_*1356insT, NM_001253383.1:c.*1355del, NM_001253380.2:c.*1355_*1356del, NM_001253380.1:c.*1355_*1356insT, NM_001253380.1:c.*1355del, NM_001253379.2:c.*1355_*1356del, NM_001253379.1:c.*1355_*1356insT, NM_001253379.1:c.*1355del, NM_001253382.2:c.*1355_*1356del, NM_001253382.1:c.*1355_*1356insT, NM_001253382.1:c.*1355del

Select item 148022102513.

rs1480221025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:23919515 (GRCh38)
3:23961006 (GRCh37)
Canonical SPDI:: NC_000003.12:23919514:T:C,NC_000003.12:23919514:T:G
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.23919515T>C, NC_000003.12:g.23919515T>G, NC_000003.11:g.23961006T>C, NC_000003.11:g.23961006T>G, NG_033850.2:g.7971T>C, NG_033850.2:g.7971T>G, NM_002948.5:c.*14T>C, NM_002948.5:c.*14T>G, NM_002948.4:c.*14T>C, NM_002948.4:c.*14T>G, NM_002948.3:c.*14T>C, NM_002948.3:c.*14T>G, NM_001253383.3:c.*14T>C, NM_001253383.3:c.*14T>G, NM_001253383.2:c.*14T>C, NM_001253383.2:c.*14T>G, NM_001253383.1:c.*14T>C, NM_001253383.1:c.*14T>G, NM_001253380.2:c.*14T>C, NM_001253380.2:c.*14T>G, NM_001253380.1:c.*14T>C, NM_001253380.1:c.*14T>G, NM_001253379.2:c.*14T>C, NM_001253379.2:c.*14T>G, NM_001253379.1:c.*14T>C, NM_001253379.1:c.*14T>G, NM_001253382.2:c.*14T>C, NM_001253382.2:c.*14T>G, NM_001253382.1:c.*14T>C, NM_001253382.1:c.*14T>G

Select item 148021219314.

rs1480212193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGT [Show Flanks]
Chromosome:: 3:23919910 (GRCh38)
3:23961402 (GRCh37)
Canonical SPDI:: NC_000003.12:23919910:TGT:TGTTGT
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGT=0./0 (ALFA)
TGT=0.000004/1 (TOPMED)
TGT=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.23919911_23919913dup, NC_000003.11:g.23961402_23961404dup, NG_033850.2:g.8367_8369dup, NM_002948.5:c.*410_*412dup, NM_002948.4:c.*410_*412dup, NM_002948.3:c.*410_*412dup, NM_001253383.3:c.*410_*412dup, NM_001253383.2:c.*410_*412dup, NM_001253383.1:c.*410_*412dup, NM_001253380.2:c.*410_*412dup, NM_001253380.1:c.*410_*412dup, NM_001253379.2:c.*410_*412dup, NM_001253379.1:c.*410_*412dup, NM_001253382.2:c.*410_*412dup, NM_001253382.1:c.*410_*412dup

Select item 147997267515.

rs1479972675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:23917520 (GRCh38)
3:23959011 (GRCh37)
Canonical SPDI:: NC_000003.12:23917519:C:G,NC_000003.12:23917519:C:T
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.23917520C>G, NC_000003.12:g.23917520C>T, NC_000003.11:g.23959011C>G, NC_000003.11:g.23959011C>T, NG_033850.2:g.5976C>G, NG_033850.2:g.5976C>T, NM_001253380.2:c.-340C>G, NM_001253380.2:c.-340C>T, NG_082949.1:g.976C>G, NG_082949.1:g.976C>T

Select item 147750376516.

rs1477503765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:23919502 (GRCh38)
3:23960993 (GRCh37)
Canonical SPDI:: NC_000003.12:23919501:T:C
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_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_000003.12:g.23919502T>C, NC_000003.11:g.23960993T>C, NG_033850.2:g.7958T>C, NM_002948.5:c.*1T>C, NM_002948.4:c.*1T>C, NM_002948.3:c.*1T>C, NM_001253383.3:c.*1T>C, NM_001253383.2:c.*1T>C, NM_001253383.1:c.*1T>C, NM_001253380.2:c.*1T>C, NM_001253380.1:c.*1T>C, NM_001253379.2:c.*1T>C, NM_001253379.1:c.*1T>C, NM_001253382.2:c.*1T>C, NM_001253382.1:c.*1T>C

Select item 147646819317.

rs1476468193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:23917442 (GRCh38)
3:23958933 (GRCh37)
Canonical SPDI:: NC_000003.12:23917441:A:G
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.23917442A>G, NC_000003.11:g.23958933A>G, NG_033850.2:g.5898A>G, NM_001253380.2:c.-418A>G, NG_082949.1:g.898A>G

Select item 147604442118.

rs1476044421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:23917794 (GRCh38)
3:23959285 (GRCh37)
Canonical SPDI:: NC_000003.12:23917793:A:G
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_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_000003.12:g.23917794A>G, NC_000003.11:g.23959285A>G, NG_033850.2:g.6250A>G, NM_001253380.2:c.-66A>G, NM_001253380.1:c.-66A>G, NG_082949.1:g.1250A>G

Select item 147406380719.

rs1474063807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:23917161 (GRCh38)
3:23958652 (GRCh37)
Canonical SPDI:: NC_000003.12:23917160:C:T
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000003.12:g.23917161C>T, NC_000003.11:g.23958652C>T, NG_033850.2:g.5617C>T, NM_002948.5:c.-23C>T, NM_002948.4:c.-23C>T, NM_002948.3:c.-23C>T, NM_001253383.3:c.-89C>T, NM_001253383.2:c.-89C>T, NM_001253383.1:c.-89C>T, NM_001253384.2:c.-23C>T, NM_001253384.1:c.-23C>T, NM_001253380.2:c.-699C>T, NM_001253379.2:c.-36C>T, NM_001253379.1:c.-36C>T, NM_001253382.2:c.-145C>T, NG_082949.1:g.617C>T

Select item 147285899120.

rs1472858991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:23919279 (GRCh38)
3:23960770 (GRCh37)
Canonical SPDI:: NC_000003.12:23919278:G:A
Gene:: RPL15 (Varview), NKIRAS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.23919279G>A, NC_000003.11:g.23960770G>A, NG_033850.2:g.7735G>A, NM_002948.5:c.393G>A, NM_002948.4:c.393G>A, NM_002948.3:c.393G>A, NM_001253383.3:c.393G>A, NM_001253383.2:c.393G>A, NM_001253383.1:c.393G>A, NM_001253380.2:c.393G>A, NM_001253380.1:c.393G>A, NM_001253379.2:c.393G>A, NM_001253379.1:c.393G>A, NM_001253382.2:c.393G>A, NM_001253382.1:c.393G>A

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