SNP Links for Gene (Select 285855) - SNP

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Select item 14915409211.

rs1491540921 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42889441 (GRCh38)
6:42857179 (GRCh37)
Canonical SPDI:: NC_000006.12:42889440:CA:
Gene:: RPL7L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.42889441_42889442del, NC_000006.11:g.42857179_42857180del, NM_198486.5:c.*2288_*2289del, NM_198486.4:c.*2288_*2289del, NM_198486.3:c.*2288_*2289del, NM_001366481.3:c.*2977_*2978del, NM_001366481.2:c.*2977_*2978del, NM_001366481.1:c.*2977_*2978del, NR_134562.3:n.3467_3468del, NR_134562.2:n.3467_3468del, NR_134562.1:n.3467_3468del, NR_134563.3:n.3245_3246del, NR_134563.2:n.3245_3246del, NR_134563.1:n.3245_3246del

Select item 14915252112.

rs1491525211 has merged into rs79094944 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42885341 (GRCh38)
6:42853079 (GRCh37)
Canonical SPDI:: NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42885329:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2/8 (GENOME_DK)
A=0.3716/1861 (1000Genomes)
HGVS:: NC_000006.12:g.42885341_42885344del, NC_000006.12:g.42885342_42885344del, NC_000006.12:g.42885343_42885344del, NC_000006.12:g.42885344del, NC_000006.12:g.42885344dup, NC_000006.12:g.42885343_42885344dup, NC_000006.12:g.42885342_42885344dup, NC_000006.12:g.42885338_42885344dup, NC_000006.11:g.42853079_42853082del, NC_000006.11:g.42853080_42853082del, NC_000006.11:g.42853081_42853082del, NC_000006.11:g.42853082del, NC_000006.11:g.42853082dup, NC_000006.11:g.42853081_42853082dup, NC_000006.11:g.42853080_42853082dup, NC_000006.11:g.42853076_42853082dup

Select item 14914717183.

rs1491471718 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:42882733 (GRCh38)
6:42850472 (GRCh37)
Canonical SPDI:: NC_000006.12:42882733:T:TT
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42882734dup, NC_000006.11:g.42850472dup

Select item 14914186694.

rs1491418669 has merged into rs57689508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42882602 (GRCh38)
6:42850340 (GRCh37)
Canonical SPDI:: NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42882592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000006.12:g.42882602_42882611del, NC_000006.12:g.42882604_42882611del, NC_000006.12:g.42882605_42882611del, NC_000006.12:g.42882606_42882611del, NC_000006.12:g.42882607_42882611del, NC_000006.12:g.42882608_42882611del, NC_000006.12:g.42882609_42882611del, NC_000006.12:g.42882610_42882611del, NC_000006.12:g.42882611del, NC_000006.12:g.42882611dup, NC_000006.12:g.42882610_42882611dup, NC_000006.12:g.42882609_42882611dup, NC_000006.12:g.42882607_42882611dup, NC_000006.11:g.42850340_42850349del, NC_000006.11:g.42850342_42850349del, NC_000006.11:g.42850343_42850349del, NC_000006.11:g.42850344_42850349del, NC_000006.11:g.42850345_42850349del, NC_000006.11:g.42850346_42850349del, NC_000006.11:g.42850347_42850349del, NC_000006.11:g.42850348_42850349del, NC_000006.11:g.42850349del, NC_000006.11:g.42850349dup, NC_000006.11:g.42850348_42850349dup, NC_000006.11:g.42850347_42850349dup, NC_000006.11:g.42850345_42850349dup

Select item 14913840195.

rs1491384019 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:42878986 (GRCh38)
6:42846724 (GRCh37)
Canonical SPDI:: NC_000006.12:42878984:TCT:T
Gene:: RPL7L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.42878986_42878987del, NC_000006.11:g.42846724_42846725del

Select item 14913433226.

rs1491343322 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42882592 (GRCh38)
6:42850330 (GRCh37)
Canonical SPDI:: NC_000006.12:42882591:CA:
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.42882592_42882593del, NC_000006.11:g.42850330_42850331del

Select item 14913013897.

rs1491301389 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:42882733 (GRCh38)
6:42850471 (GRCh37)
Canonical SPDI:: NC_000006.12:42882732:CT:
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.42882733_42882734del, NC_000006.11:g.42850471_42850472del

Select item 14909095838.

rs1490909583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42878934 (GRCh38)
6:42846672 (GRCh37)
Canonical SPDI:: NC_000006.12:42878933:G:A
Gene:: RPL7L1 (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_000006.12:g.42878934G>A, NC_000006.11:g.42846672G>A

Select item 14908948549.

rs1490894854 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTA>- [Show Flanks]
Chromosome:: 6:42878102 (GRCh38)
6:42845840 (GRCh37)
Canonical SPDI:: NC_000006.12:42878098:CTACTCTA:CTA
Gene:: RPL7L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42878102_42878106del, NC_000006.11:g.42845840_42845844del

Select item 149078214110.

rs1490782141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42884268 (GRCh38)
6:42852006 (GRCh37)
Canonical SPDI:: NC_000006.12:42884267:C:A,NC_000006.12:42884267:C:T
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42884268C>A, NC_000006.12:g.42884268C>T, NC_000006.11:g.42852006C>A, NC_000006.11:g.42852006C>T

Select item 149076754711.

rs1490767547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42885305 (GRCh38)
6:42853043 (GRCh37)
Canonical SPDI:: NC_000006.12:42885304:G:A
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42885305G>A, NC_000006.11:g.42853043G>A

Select item 149045316112.

rs1490453161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42880162 (GRCh38)
6:42847900 (GRCh37)
Canonical SPDI:: NC_000006.12:42880161:C:T
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42880162C>T, NC_000006.11:g.42847900C>T

Select item 149036133513.

rs1490361335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:42878408 (GRCh38)
6:42846146 (GRCh37)
Canonical SPDI:: NC_000006.12:42878407:T:A
Gene:: RPL7L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000025/3 (GnomAD)
HGVS:: NC_000006.12:g.42878408T>A, NC_000006.11:g.42846146T>A

Select item 149010907214.

rs1490109072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 6:42883941 (GRCh38)
6:42851680 (GRCh37)
Canonical SPDI:: NC_000006.12:42883941:GT:GTGT
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42883942_42883943dup, NC_000006.11:g.42851680_42851681dup

Select item 149007793415.

rs1490077934 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:42878440 (GRCh38)
6:42846178 (GRCh37)
Canonical SPDI:: NC_000006.12:42878439:G:
Gene:: RPL7L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.42878440del, NC_000006.11:g.42846178del

Select item 149004260116.

rs1490042601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42880150 (GRCh38)
6:42847888 (GRCh37)
Canonical SPDI:: NC_000006.12:42880149:G:A
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.42880150G>A, NC_000006.11:g.42847888G>A

Select item 149002638817.

rs1490026388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42879109 (GRCh38)
6:42846847 (GRCh37)
Canonical SPDI:: NC_000006.12:42879108:T:C
Gene:: RPL7L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.42879109T>C, NC_000006.11:g.42846847T>C

Select item 148989658818.

rs1489896588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42879550 (GRCh38)
6:42847288 (GRCh37)
Canonical SPDI:: NC_000006.12:42879549:G:A
Gene:: RPL7L1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.42879550G>A, NC_000006.11:g.42847288G>A

Select item 148966331119.

rs1489663311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42883001 (GRCh38)
6:42850739 (GRCh37)
Canonical SPDI:: NC_000006.12:42883000:C:T
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.42883001C>T, NC_000006.11:g.42850739C>T

Select item 148930625720.

rs1489306257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:42882547 (GRCh38)
6:42850285 (GRCh37)
Canonical SPDI:: NC_000006.12:42882546:T:C,NC_000006.12:42882546:T:G
Gene:: RPL7L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42882547T>C, NC_000006.12:g.42882547T>G, NC_000006.11:g.42850285T>C, NC_000006.11:g.42850285T>G

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