SNP Links for Gene (Select 100131998) - SNP

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Select item 14913189441.

rs1491318944 has merged into rs1172535480 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GGGG,GGGGGG,GGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 16:22437761 (GRCh38)
16:22449082 (GRCh37)
Canonical SPDI:: NC_000016.10:22437756:GGGGGGG:GGGG,NC_000016.10:22437756:GGGGGGG:GGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.02698/15 (NorthernSweden)
HGVS:: NC_000016.10:g.22437761_22437763del, NC_000016.10:g.22437762_22437763del, NC_000016.10:g.22437763dup, NC_000016.10:g.22437761_22437763dup, NC_000016.10:g.22437760_22437763dup, NC_000016.10:g.22437763_22437764insGGGGGGGG, NC_000016.10:g.22437763_22437764insGGGGGGGGGGG, NC_000016.9:g.22449082_22449084del, NC_000016.9:g.22449083_22449084del, NC_000016.9:g.22449084dup, NC_000016.9:g.22449082_22449084dup, NC_000016.9:g.22449081_22449084dup, NC_000016.9:g.22449084_22449085insGGGGGGGG, NC_000016.9:g.22449084_22449085insGGGGGGGGGGG, NW_017852933.1:g.667280_667282del, NW_017852933.1:g.667281_667282del, NW_017852933.1:g.667282dup, NW_017852933.1:g.667280_667282dup, NW_017852933.1:g.667279_667282dup, NW_017852933.1:g.667282_667283insCCCCCCCC, NW_017852933.1:g.667282_667283insCCCCCCCCCCC

Select item 14912238862.

rs1491223886 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTT [Show Flanks]
Chromosome:: 16:22419512 (GRCh38)
16:22430834 (GRCh37)
Canonical SPDI:: NC_000016.10:22419512:T:TT,NC_000016.10:22419512:T:TTT,NC_000016.10:22419512:T:TTTT
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22419513dup, NC_000016.10:g.22419513_22419514insTT, NC_000016.10:g.22419513_22419514insTTT, NC_000016.9:g.22430834dup, NC_000016.9:g.22430834_22430835insTT, NC_000016.9:g.22430834_22430835insTTT, NW_017852933.1:g.685526dup, NW_017852933.1:g.685526_685527insAA, NW_017852933.1:g.685526_685527insAAA, NR_027460.2:n.2271dup, NR_027460.2:n.2271_2272insAA, NR_027460.2:n.2271_2272insAAA

Select item 14911759113.

rs1491175911 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:22419512 (GRCh38)
16:22430833 (GRCh37)
Canonical SPDI:: NC_000016.10:22419511:GT:
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000067/8 (GnomAD)
HGVS:: NC_000016.10:g.22419512_22419513del, NC_000016.9:g.22430833_22430834del, NW_017852933.1:g.685526_685527del, NR_027460.2:n.2271_2272del

Select item 14911502604.

rs1491150260 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGTAGGG,AGGTCGGG,AGGTGGG [Show Flanks]
Chromosome:: 16:22437757 (GRCh38)
16:22449079 (GRCh37)
Canonical SPDI:: NC_000016.10:22437757:GGG:GGGAGGTAGGG,NC_000016.10:22437757:GGG:GGGAGGTCGGG,NC_000016.10:22437757:GGG:GGGAGGTGGG
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGAGGTCGGG=0./0 (ALFA)
GGGAGGT=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.22437760_22437761insAGGTAGGG, NC_000016.10:g.22437760_22437761insAGGTCGGG, NC_000016.10:g.22437760_22437761insAGGTGGG, NC_000016.9:g.22449081_22449082insAGGTAGGG, NC_000016.9:g.22449081_22449082insAGGTCGGG, NC_000016.9:g.22449081_22449082insAGGTGGG, NW_017852933.1:g.667281_667282insTACCTCCC, NW_017852933.1:g.667281_667282insGACCTCCC, NW_017852933.1:g.667281_667282insACCTCCC

Select item 14908951425.

rs1490895142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:22420177 (GRCh38)
16:22431498 (GRCh37)
Canonical SPDI:: NC_000016.10:22420174:AGAG:AG
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22420175AG[1], NC_000016.9:g.22431496AG[1], NW_017852933.1:g.684861CT[1], NR_027460.2:n.1606CT[1], NR_027460.1:n.1860CT[1]

Select item 14908496206.

rs1490849620 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCA>- [Show Flanks]
Chromosome:: 16:22420140 (GRCh38)
16:22431461 (GRCh37)
Canonical SPDI:: NC_000016.10:22420137:CATGCA:CA
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.22420140_22420143del, NC_000016.9:g.22431461_22431464del, NW_017852933.1:g.684898_684901del, NR_027460.2:n.1643_1646del, NR_027460.1:n.1897_1900del

Select item 14907827657.

rs1490782765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22419469 (GRCh38)
16:22430790 (GRCh37)
Canonical SPDI:: NC_000016.10:22419468:C:T
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.22419469C>T, NC_000016.9:g.22430790C>T, NW_017852933.1:g.685570G>A, NR_027460.2:n.2315G>A

Select item 14906185848.

rs1490618584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:22419843 (GRCh38)
16:22431164 (GRCh37)
Canonical SPDI:: NC_000016.10:22419842:C:G
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_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_000016.10:g.22419843C>G, NC_000016.9:g.22431164C>G, NW_017852933.1:g.685196G>C, NR_027460.2:n.1941G>C, NR_027460.1:n.2195G>C

Select item 14905874049.

rs1490587404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22437783 (GRCh38)
16:22449104 (GRCh37)
Canonical SPDI:: NC_000016.10:22437782:C:A
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00031/5 (ALFA)
A=0.00069/2 (KOREAN)
HGVS:: NC_000016.10:g.22437783C>A, NC_000016.9:g.22449104C>A, NW_017852933.1:g.667256G>T

Select item 149047251210.

rs1490472512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22426989 (GRCh38)
16:22438310 (GRCh37)
Canonical SPDI:: NC_000016.10:22426988:T:C
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.22426989T>C, NC_000016.9:g.22438310T>C, NW_017852933.1:g.678050A>G

Select item 149017002311.

rs1490170023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22425134 (GRCh38)
16:22436455 (GRCh37)
Canonical SPDI:: NC_000016.10:22425133:A:G
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.22425134A>G, NC_000016.9:g.22436455A>G, NW_017852933.1:g.679905T>C

Select item 149009607012.

rs1490096070 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:22438765 (GRCh38)
16:22450086 (GRCh37)
Canonical SPDI:: NC_000016.10:22438764:T:
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.22438765del, NC_000016.9:g.22450086del, NW_017852933.1:g.666274del

Select item 148991327813.

rs1489913278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22419962 (GRCh38)
16:22431283 (GRCh37)
Canonical SPDI:: NC_000016.10:22419961:C:A
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_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_000016.10:g.22419962C>A, NC_000016.9:g.22431283C>A, NW_017852933.1:g.685077G>T, NR_027460.2:n.1822G>T, NR_027460.1:n.2076G>T

Select item 148979064714.

rs1489790647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:22421988 (GRCh38)
16:22433309 (GRCh37)
Canonical SPDI:: NC_000016.10:22421987:G:C
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_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_000016.10:g.22421988G>C, NC_000016.9:g.22433309G>C, NW_017852933.1:g.683051C>G

Select item 148976825915.

rs1489768259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22432217 (GRCh38)
16:22443538 (GRCh37)
Canonical SPDI:: NC_000016.10:22432216:A:G
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000057/8 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000016.10:g.22432217A>G, NC_000016.9:g.22443538A>G, NW_017852933.1:g.672822T>C

Select item 148951516316.

rs1489515163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:22436736 (GRCh38)
16:22448057 (GRCh37)
Canonical SPDI:: NC_000016.10:22436735:C:G
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22436736C>G, NC_000016.9:g.22448057C>G, NW_017852933.1:g.668303G>C

Select item 148939748117.

rs1489397481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:22432753 (GRCh38)
16:22444074 (GRCh37)
Canonical SPDI:: NC_000016.10:22432752:A:C
Gene:: RRN3P3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22432753A>C, NC_000016.9:g.22444074A>C, NW_017852933.1:g.672286T>G, NR_027460.2:n.855T>G, NR_027460.1:n.1109T>G

Select item 148927562518.

rs1489275625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22427548 (GRCh38)
16:22438869 (GRCh37)
Canonical SPDI:: NC_000016.10:22427547:T:C
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_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_000016.10:g.22427548T>C, NC_000016.9:g.22438869T>C, NW_017852933.1:g.677491A>G

Select item 148922428919.

rs1489224289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:22424494 (GRCh38)
16:22435815 (GRCh37)
Canonical SPDI:: NC_000016.10:22424493:C:A,NC_000016.10:22424493:C:T
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.22424494C>A, NC_000016.10:g.22424494C>T, NC_000016.9:g.22435815C>A, NC_000016.9:g.22435815C>T, NW_017852933.1:g.680545G>T, NW_017852933.1:g.680545G>A

Select item 148922378220.

rs1489223782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22428461 (GRCh38)
16:22439782 (GRCh37)
Canonical SPDI:: NC_000016.10:22428460:C:T
Gene:: RRN3P3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.22428461C>T, NC_000016.9:g.22439782C>T, NW_017852933.1:g.676578G>A