SNP Links for Nucleotide (Select 224548951) - SNP

Links from Nucleotide

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Select item 14913515201.

rs1491351520 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:16441576 (GRCh38)
17:16344890 (GRCh37)
Canonical SPDI:: NC_000017.11:16441575:GT:
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16441576_16441577del, NC_000017.10:g.16344890_16344891del, NM_152350.3:c.*259_*260del, NM_152350.2:c.*259_*260del, NR_027168.2:n.589_590del, NR_027162.1:n.939_940del, NR_027160.1:n.886_887del, NR_027161.1:n.882_883del, NR_027667.1:n.807_808del, NR_027159.1:n.763_764del, NR_045028.1:n.750_751del, NM_152350.1:c.*259_*260del, NR_045027.1:n.706_707del, NR_027163.1:n.673_674del, NR_027164.1:n.620_621del, NR_027169.1:n.616_617del, NR_045022.1:n.615_616del, NR_045029.1:n.571_572del, NR_027167.1:n.563_564del, NR_027170.1:n.541_542del, NR_027166.1:n.497_498del, NR_027165.1:n.484_485del, NR_045021.1:n.476_477del, NR_027158.1:n.440_441del

Select item 14891097902.

rs1489109790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441888 (GRCh38)
17:16345202 (GRCh37)
Canonical SPDI:: NC_000017.11:16441887:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.16441888T>C, NC_000017.10:g.16345202T>C, NM_207387.4:c.*1980A>G, NM_001113567.3:c.*1700A>G, NM_152350.3:c.*571T>C, XM_017024620.2:c.*1700A>G, XM_017024619.2:c.*1700A>G, NM_152350.2:c.*572T>C, NR_027168.2:n.901T>C, XM_047435961.1:c.*1700A>G, NR_027162.1:n.1251T>C, NR_027160.1:n.1198T>C, NR_027161.1:n.1194T>C, NR_027667.1:n.1119T>C, NR_027159.1:n.1075T>C, NR_045028.1:n.1062T>C, NM_152350.1:c.*572T>C, NR_045027.1:n.1018T>C, NR_027163.1:n.985T>C, NR_027164.1:n.932T>C, NR_027169.1:n.928T>C, NR_045022.1:n.927T>C, NR_045029.1:n.883T>C, NR_027167.1:n.875T>C, NR_027170.1:n.853T>C, NR_027166.1:n.809T>C, NR_027165.1:n.796T>C, NR_045021.1:n.788T>C, NR_027158.1:n.752T>C

Select item 14882615493.

rs1488261549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441831 (GRCh38)
17:16345145 (GRCh37)
Canonical SPDI:: NC_000017.11:16441830:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16441831T>C, NC_000017.10:g.16345145T>C, NM_207387.4:c.*2037A>G, NM_001113567.3:c.*1757A>G, NM_152350.3:c.*514T>C, XM_017024620.2:c.*1757A>G, XM_017024619.2:c.*1757A>G, NM_152350.2:c.*515T>C, NR_027168.2:n.844T>C, XM_047435961.1:c.*1757A>G, NR_027162.1:n.1194T>C, NR_027160.1:n.1141T>C, NR_027161.1:n.1137T>C, NR_027667.1:n.1062T>C, NR_027159.1:n.1018T>C, NR_045028.1:n.1005T>C, NM_152350.1:c.*515T>C, NR_045027.1:n.961T>C, NR_027163.1:n.928T>C, NR_027164.1:n.875T>C, NR_027169.1:n.871T>C, NR_045022.1:n.870T>C, NR_045029.1:n.826T>C, NR_027167.1:n.818T>C, NR_027170.1:n.796T>C, NR_027166.1:n.752T>C, NR_027165.1:n.739T>C, NR_045021.1:n.731T>C, NR_027158.1:n.695T>C

Select item 14834708344.

rs1483470834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16442002 (GRCh38)
17:16345316 (GRCh37)
Canonical SPDI:: NC_000017.11:16442001:A:G
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_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_000017.11:g.16442002A>G, NC_000017.10:g.16345316A>G, NM_207387.4:c.*1866T>C, NM_001113567.3:c.*1586T>C, NM_152350.3:c.*685A>G, XM_017024620.2:c.*1586T>C, XM_017024619.2:c.*1586T>C, NM_152350.2:c.*685A>G, NR_027168.2:n.1015A>G, XM_047435961.1:c.*1586T>C, NR_027162.1:n.1365A>G, NR_027160.1:n.1312A>G, NR_027161.1:n.1308A>G, NR_027667.1:n.1233A>G, NR_027159.1:n.1189A>G, NR_045028.1:n.1176A>G, NM_152350.1:c.*685A>G, NR_045027.1:n.1132A>G, NR_027163.1:n.1099A>G, NR_027164.1:n.1046A>G, NR_027169.1:n.1042A>G, NR_045022.1:n.1041A>G, NR_045029.1:n.997A>G, NR_027167.1:n.989A>G, NR_027170.1:n.967A>G, NR_027166.1:n.923A>G, NR_027165.1:n.910A>G, NR_045021.1:n.902A>G, NR_027158.1:n.866A>G

Select item 14832497035.

rs1483249703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:16441904 (GRCh38)
17:16345218 (GRCh37)
Canonical SPDI:: NC_000017.11:16441903:G:C
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000171/5 (GnomAD)
C=0.001684/1 (NorthernSweden)
HGVS:: NC_000017.11:g.16441904G>C, NC_000017.10:g.16345218G>C, NM_207387.4:c.*1964C>G, NM_001113567.3:c.*1684C>G, NM_152350.3:c.*587G>C, XM_017024620.2:c.*1684C>G, XM_017024619.2:c.*1684C>G, NM_152350.2:c.*588G>C, NR_027168.2:n.917G>C, XM_047435961.1:c.*1684C>G, NR_027162.1:n.1267G>C, NR_027160.1:n.1214G>C, NR_027161.1:n.1210G>C, NR_027667.1:n.1135G>C, NR_027159.1:n.1091G>C, NR_045028.1:n.1078G>C, NM_152350.1:c.*588G>C, NR_045027.1:n.1034G>C, NR_027163.1:n.1001G>C, NR_027164.1:n.948G>C, NR_027169.1:n.944G>C, NR_045022.1:n.943G>C, NR_045029.1:n.899G>C, NR_027167.1:n.891G>C, NR_027170.1:n.869G>C, NR_027166.1:n.825G>C, NR_027165.1:n.812G>C, NR_045021.1:n.804G>C, NR_027158.1:n.768G>C

Select item 14717029386.

rs1471702938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16441908 (GRCh38)
17:16345222 (GRCh37)
Canonical SPDI:: NC_000017.11:16441907:A:G
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000088/1 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.16441908A>G, NC_000017.10:g.16345222A>G, NM_207387.4:c.*1960T>C, NM_001113567.3:c.*1680T>C, NM_152350.3:c.*591A>G, XM_017024620.2:c.*1680T>C, XM_017024619.2:c.*1680T>C, NM_152350.2:c.*592A>G, NR_027168.2:n.921A>G, XM_047435961.1:c.*1680T>C, NR_027162.1:n.1271A>G, NR_027160.1:n.1218A>G, NR_027161.1:n.1214A>G, NR_027667.1:n.1139A>G, NR_027159.1:n.1095A>G, NR_045028.1:n.1082A>G, NM_152350.1:c.*592A>G, NR_045027.1:n.1038A>G, NR_027163.1:n.1005A>G, NR_027164.1:n.952A>G, NR_027169.1:n.948A>G, NR_045022.1:n.947A>G, NR_045029.1:n.903A>G, NR_027167.1:n.895A>G, NR_027170.1:n.873A>G, NR_027166.1:n.829A>G, NR_027165.1:n.816A>G, NR_045021.1:n.808A>G, NR_027158.1:n.772A>G

Select item 14682892217.

rs1468289221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:16439346 (GRCh38)
17:16342660 (GRCh37)
Canonical SPDI:: NC_000017.11:16439345:T:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439346T>A, NC_000017.10:g.16342660T>A, NM_152350.3:c.205T>A, NM_152350.2:c.205T>A, NR_027168.2:n.63T>A, NR_027172.2:n.63T>A, NR_027162.1:n.360T>A, NR_027160.1:n.360T>A, NR_027161.1:n.360T>A, NR_027667.1:n.360T>A, NR_027159.1:n.360T>A, NR_045028.1:n.360T>A, NM_152350.1:c.205T>A, NR_027176.1:n.94T>A, NR_045027.1:n.360T>A, NR_027163.1:n.94T>A, NR_027164.1:n.94T>A, NR_027169.1:n.94T>A, NR_045022.1:n.94T>A, NR_045029.1:n.94T>A, NR_027167.1:n.94T>A, NR_027170.1:n.94T>A, NR_027166.1:n.94T>A, NR_027165.1:n.94T>A, NR_045021.1:n.94T>A, NR_027171.1:n.360T>A, NR_027173.1:n.94T>A, NR_027178.1:n.94T>A, NR_027158.1:n.94T>A, NR_027177.1:n.94T>A, NR_027174.1:n.94T>A, NR_045024.1:n.360T>A, NR_027175.1:n.94T>A, NR_045023.1:n.94T>A, NR_045026.1:n.94T>A, NR_027179.1:n.94T>A

Select item 14665237628.

rs1466523762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:16441951 (GRCh38)
17:16345265 (GRCh37)
Canonical SPDI:: NC_000017.11:16441950:T:G
Gene:: SNHG29 (Varview), LRRC75A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441951T>G, NC_000017.10:g.16345265T>G, NM_207387.4:c.*1917A>C, NM_001113567.3:c.*1637A>C, NM_152350.3:c.*634T>G, XM_017024620.2:c.*1637A>C, XM_017024619.2:c.*1637A>C, NM_152350.2:c.*634T>G, NR_027168.2:n.964T>G, XM_047435961.1:c.*1637A>C, NR_027162.1:n.1314T>G, NR_027160.1:n.1261T>G, NR_027161.1:n.1257T>G, NR_027667.1:n.1182T>G, NR_027159.1:n.1138T>G, NR_045028.1:n.1125T>G, NM_152350.1:c.*634T>G, NR_045027.1:n.1081T>G, NR_027163.1:n.1048T>G, NR_027164.1:n.995T>G, NR_027169.1:n.991T>G, NR_045022.1:n.990T>G, NR_045029.1:n.946T>G, NR_027167.1:n.938T>G, NR_027170.1:n.916T>G, NR_027166.1:n.872T>G, NR_027165.1:n.859T>G, NR_045021.1:n.851T>G, NR_027158.1:n.815T>G

Select item 14659257539.

rs1465925753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16439389 (GRCh38)
17:16342703 (GRCh37)
Canonical SPDI:: NC_000017.11:16439388:G:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16439389G>A, NC_000017.10:g.16342703G>A, NM_152350.3:c.248G>A, NM_152350.2:c.248G>A, NR_027168.2:n.106G>A, NR_027172.2:n.106G>A, NR_027162.1:n.403G>A, NR_027160.1:n.403G>A, NR_027161.1:n.403G>A, NR_027667.1:n.403G>A, NR_027159.1:n.403G>A, NR_045028.1:n.403G>A, NM_152350.1:c.248G>A, NR_027176.1:n.137G>A, NR_045027.1:n.403G>A, NR_027163.1:n.137G>A, NR_027164.1:n.137G>A, NR_027169.1:n.137G>A, NR_045022.1:n.137G>A, NR_045029.1:n.137G>A, NR_027167.1:n.137G>A, NR_027170.1:n.137G>A, NR_027166.1:n.137G>A, NR_027165.1:n.137G>A, NR_045021.1:n.137G>A, NR_027171.1:n.403G>A, NR_027173.1:n.137G>A, NR_027178.1:n.137G>A, NR_027158.1:n.137G>A, NR_027177.1:n.137G>A, NR_027174.1:n.137G>A, NR_045024.1:n.403G>A, NR_027175.1:n.137G>A, NR_045023.1:n.137G>A, NR_045026.1:n.137G>A, NR_027179.1:n.137G>A

Select item 146308415410.

rs1463084154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:16441423 (GRCh38)
17:16344737 (GRCh37)
Canonical SPDI:: NC_000017.11:16441422:T:A
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16441423T>A, NC_000017.10:g.16344737T>A, NM_152350.3:c.*106T>A, NM_152350.2:c.*106T>A, NR_027168.2:n.436T>A, NR_027162.1:n.786T>A, NR_027160.1:n.733T>A, NR_027161.1:n.729T>A, NR_027667.1:n.654T>A, NR_027159.1:n.610T>A, NR_045028.1:n.597T>A, NM_152350.1:c.*106T>A, NR_045027.1:n.553T>A, NR_027163.1:n.520T>A, NR_027164.1:n.467T>A, NR_027169.1:n.463T>A, NR_045022.1:n.462T>A, NR_045029.1:n.418T>A, NR_027167.1:n.410T>A, NR_027170.1:n.388T>A, NR_027166.1:n.344T>A, NR_027165.1:n.331T>A, NR_045021.1:n.323T>A, NR_027158.1:n.287T>A

Select item 145976508911.

rs1459765089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:16439046 (GRCh38)
17:16342360 (GRCh37)
Canonical SPDI:: NC_000017.11:16439045:C:G,NC_000017.11:16439045:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.16439046C>G, NC_000017.11:g.16439046C>T, NC_000017.10:g.16342360C>G, NC_000017.10:g.16342360C>T, NM_152350.3:c.-96C>G, NM_152350.3:c.-96C>T, NR_027162.1:n.60C>G, NR_027162.1:n.60C>T, NR_027160.1:n.60C>G, NR_027160.1:n.60C>T, NR_027161.1:n.60C>G, NR_027161.1:n.60C>T, NR_027667.1:n.60C>G, NR_027667.1:n.60C>T, NR_027159.1:n.60C>G, NR_027159.1:n.60C>T, NR_045028.1:n.60C>G, NR_045028.1:n.60C>T, NR_027176.1:n.60C>G, NR_027176.1:n.60C>T, NR_045027.1:n.60C>G, NR_045027.1:n.60C>T, NR_027163.1:n.60C>G, NR_027163.1:n.60C>T, NR_027164.1:n.60C>G, NR_027164.1:n.60C>T, NR_027169.1:n.60C>G, NR_027169.1:n.60C>T, NR_045022.1:n.60C>G, NR_045022.1:n.60C>T, NR_045029.1:n.60C>G, NR_045029.1:n.60C>T, NR_027167.1:n.60C>G, NR_027167.1:n.60C>T, NR_027170.1:n.60C>G, NR_027170.1:n.60C>T, NR_027166.1:n.60C>G, NR_027166.1:n.60C>T, NR_027165.1:n.60C>G, NR_027165.1:n.60C>T, NR_045021.1:n.60C>G, NR_045021.1:n.60C>T, NR_027171.1:n.60C>G, NR_027171.1:n.60C>T, NR_027173.1:n.60C>G, NR_027173.1:n.60C>T, NR_027178.1:n.60C>G, NR_027178.1:n.60C>T, NR_027158.1:n.60C>G, NR_027158.1:n.60C>T, NR_027177.1:n.60C>G, NR_027177.1:n.60C>T, NR_027174.1:n.60C>G, NR_027174.1:n.60C>T, NR_045024.1:n.60C>G, NR_045024.1:n.60C>T, NR_027175.1:n.60C>G, NR_027175.1:n.60C>T, NR_045023.1:n.60C>G, NR_045023.1:n.60C>T, NR_045026.1:n.60C>G, NR_045026.1:n.60C>T, NR_045025.1:n.60C>G, NR_045025.1:n.60C>T, NR_027179.1:n.60C>G, NR_027179.1:n.60C>T

Select item 145952662112.

rs1459526621 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTC>- [Show Flanks]
Chromosome:: 17:16441599 (GRCh38)
17:16344913 (GRCh37)
Canonical SPDI:: NC_000017.11:16441597:CAGTC:C
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.16441599_16441602del, NC_000017.10:g.16344913_16344916del, NM_207387.4:c.*2267_*2270del, NM_001113567.3:c.*1987_*1990del, NM_152350.3:c.*282_*285del, XM_017024620.2:c.*1987_*1990del, XM_017024619.2:c.*1987_*1990del, NM_152350.2:c.*283_*286del, NR_027168.2:n.612_615del, XM_047435961.1:c.*1987_*1990del, NR_027162.1:n.962_965del, NR_027160.1:n.909_912del, NR_027161.1:n.905_908del, NR_027667.1:n.830_833del, NR_027159.1:n.786_789del, NR_045028.1:n.773_776del, NM_152350.1:c.*283_*286del, NR_045027.1:n.729_732del, NR_027163.1:n.696_699del, NR_027164.1:n.643_646del, NR_027169.1:n.639_642del, NR_045022.1:n.638_641del, NR_045029.1:n.594_597del, NR_027167.1:n.586_589del, NR_027170.1:n.564_567del, NR_027166.1:n.520_523del, NR_027165.1:n.507_510del, NR_045021.1:n.499_502del, NR_027158.1:n.463_466del

Select item 145840863213.

rs1458408632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:16439364 (GRCh38)
17:16342678 (GRCh37)
Canonical SPDI:: NC_000017.11:16439363:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16439364G>C, NC_000017.10:g.16342678G>C, NM_152350.3:c.223G>C, NM_152350.2:c.223G>C, NR_027168.2:n.81G>C, NR_027172.2:n.81G>C, NR_027162.1:n.378G>C, NR_027160.1:n.378G>C, NR_027161.1:n.378G>C, NR_027667.1:n.378G>C, NR_027159.1:n.378G>C, NR_045028.1:n.378G>C, NM_152350.1:c.223G>C, NR_027176.1:n.112G>C, NR_045027.1:n.378G>C, NR_027163.1:n.112G>C, NR_027164.1:n.112G>C, NR_027169.1:n.112G>C, NR_045022.1:n.112G>C, NR_045029.1:n.112G>C, NR_027167.1:n.112G>C, NR_027170.1:n.112G>C, NR_027166.1:n.112G>C, NR_027165.1:n.112G>C, NR_045021.1:n.112G>C, NR_027171.1:n.378G>C, NR_027173.1:n.112G>C, NR_027178.1:n.112G>C, NR_027158.1:n.112G>C, NR_027177.1:n.112G>C, NR_027174.1:n.112G>C, NR_045024.1:n.378G>C, NR_027175.1:n.112G>C, NR_045023.1:n.112G>C, NR_045026.1:n.112G>C, NR_027179.1:n.112G>C

Select item 145588384114.

rs1455883841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16441602 (GRCh38)
17:16344916 (GRCh37)
Canonical SPDI:: NC_000017.11:16441601:C:T
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0099/44 (ALFA)
T=0.0094/42 (Estonian)
HGVS:: NC_000017.11:g.16441602C>T, NC_000017.10:g.16344916C>T, NM_207387.4:c.*2266G>A, NM_001113567.3:c.*1986G>A, NM_152350.3:c.*285C>T, XM_017024620.2:c.*1986G>A, XM_017024619.2:c.*1986G>A, NM_152350.2:c.*286C>T, NR_027168.2:n.615C>T, XM_047435961.1:c.*1986G>A, NR_027162.1:n.965C>T, NR_027160.1:n.912C>T, NR_027161.1:n.908C>T, NR_027667.1:n.833C>T, NR_027159.1:n.789C>T, NR_045028.1:n.776C>T, NM_152350.1:c.*286C>T, NR_045027.1:n.732C>T, NR_027163.1:n.699C>T, NR_027164.1:n.646C>T, NR_027169.1:n.642C>T, NR_045022.1:n.641C>T, NR_045029.1:n.597C>T, NR_027167.1:n.589C>T, NR_027170.1:n.567C>T, NR_027166.1:n.523C>T, NR_027165.1:n.510C>T, NR_045021.1:n.502C>T, NR_027158.1:n.466C>T

Select item 144990125915.

rs1449901259 has merged into rs71353801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 17:16441590 (GRCh38)
17:16344904 (GRCh37)
Canonical SPDI:: NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16441576:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441590_16441593del, NC_000017.11:g.16441591_16441593del, NC_000017.11:g.16441592_16441593del, NC_000017.11:g.16441593del, NC_000017.11:g.16441593dup, NC_000017.11:g.16441592_16441593dup, NC_000017.11:g.16441591_16441593dup, NC_000017.11:g.16441590_16441593dup, NC_000017.11:g.16441589_16441593dup, NC_000017.10:g.16344904_16344907del, NC_000017.10:g.16344905_16344907del, NC_000017.10:g.16344906_16344907del, NC_000017.10:g.16344907del, NC_000017.10:g.16344907dup, NC_000017.10:g.16344906_16344907dup, NC_000017.10:g.16344905_16344907dup, NC_000017.10:g.16344904_16344907dup, NC_000017.10:g.16344903_16344907dup, NM_207387.4:c.*2288_*2291del, NM_207387.4:c.*2289_*2291del, NM_207387.4:c.*2290_*2291del, NM_207387.4:c.*2291del, NM_207387.4:c.*2291dup, NM_207387.4:c.*2290_*2291dup, NM_207387.4:c.*2289_*2291dup, NM_207387.4:c.*2288_*2291dup, NM_207387.4:c.*2287_*2291dup, NM_001113567.3:c.*2008_*2011del, NM_001113567.3:c.*2009_*2011del, NM_001113567.3:c.*2010_*2011del, NM_001113567.3:c.*2011del, NM_001113567.3:c.*2011dup, NM_001113567.3:c.*2010_*2011dup, NM_001113567.3:c.*2009_*2011dup, NM_001113567.3:c.*2008_*2011dup, NM_001113567.3:c.*2007_*2011dup, NM_152350.3:c.*273_*276del, NM_152350.3:c.*274_*276del, NM_152350.3:c.*275_*276del, NM_152350.3:c.*276del, NM_152350.3:c.*276dup, NM_152350.3:c.*275_*276dup, NM_152350.3:c.*274_*276dup, NM_152350.3:c.*273_*276dup, NM_152350.3:c.*272_*276dup, XM_017024620.2:c.*2008_*2011del, XM_017024620.2:c.*2009_*2011del, XM_017024620.2:c.*2010_*2011del, XM_017024620.2:c.*2011del, XM_017024620.2:c.*2011dup, XM_017024620.2:c.*2010_*2011dup, XM_017024620.2:c.*2009_*2011dup, XM_017024620.2:c.*2008_*2011dup, XM_017024620.2:c.*2007_*2011dup, XM_017024619.2:c.*2008_*2011del, XM_017024619.2:c.*2009_*2011del, XM_017024619.2:c.*2010_*2011del, XM_017024619.2:c.*2011del, XM_017024619.2:c.*2011dup, XM_017024619.2:c.*2010_*2011dup, XM_017024619.2:c.*2009_*2011dup, XM_017024619.2:c.*2008_*2011dup, XM_017024619.2:c.*2007_*2011dup, NM_152350.2:c.*274_*277del, NM_152350.2:c.*275_*277del, NM_152350.2:c.*276_*277del, NM_152350.2:c.*277del, NM_152350.2:c.*277dup, NM_152350.2:c.*276_*277dup, NM_152350.2:c.*275_*277dup, NM_152350.2:c.*274_*277dup, NM_152350.2:c.*273_*277dup, NR_027168.2:n.603_606del, NR_027168.2:n.604_606del, NR_027168.2:n.605_606del, NR_027168.2:n.606del, NR_027168.2:n.606dup, NR_027168.2:n.605_606dup, NR_027168.2:n.604_606dup, NR_027168.2:n.603_606dup, NR_027168.2:n.602_606dup, XM_047435961.1:c.*2008_*2011del, XM_047435961.1:c.*2009_*2011del, XM_047435961.1:c.*2010_*2011del, XM_047435961.1:c.*2011del, XM_047435961.1:c.*2011dup, XM_047435961.1:c.*2010_*2011dup, XM_047435961.1:c.*2009_*2011dup, XM_047435961.1:c.*2008_*2011dup, XM_047435961.1:c.*2007_*2011dup, NR_027162.1:n.953_956del, NR_027162.1:n.954_956del, NR_027162.1:n.955_956del, NR_027162.1:n.956del, NR_027162.1:n.956dup, NR_027162.1:n.955_956dup, NR_027162.1:n.954_956dup, NR_027162.1:n.953_956dup, NR_027162.1:n.952_956dup, NR_027160.1:n.900_903del, NR_027160.1:n.901_903del, NR_027160.1:n.902_903del, NR_027160.1:n.903del, NR_027160.1:n.903dup, NR_027160.1:n.902_903dup, NR_027160.1:n.901_903dup, NR_027160.1:n.900_903dup, NR_027160.1:n.899_903dup, NR_027161.1:n.896_899del, NR_027161.1:n.897_899del, NR_027161.1:n.898_899del, NR_027161.1:n.899del, NR_027161.1:n.899dup, NR_027161.1:n.898_899dup, NR_027161.1:n.897_899dup, NR_027161.1:n.896_899dup, NR_027161.1:n.895_899dup, NR_027667.1:n.821_824del, NR_027667.1:n.822_824del, NR_027667.1:n.823_824del, NR_027667.1:n.824del, NR_027667.1:n.824dup, NR_027667.1:n.823_824dup, NR_027667.1:n.822_824dup, NR_027667.1:n.821_824dup, NR_027667.1:n.820_824dup, NR_027159.1:n.777_780del, NR_027159.1:n.778_780del, NR_027159.1:n.779_780del, NR_027159.1:n.780del, NR_027159.1:n.780dup, NR_027159.1:n.779_780dup, NR_027159.1:n.778_780dup, NR_027159.1:n.777_780dup, NR_027159.1:n.776_780dup, NR_045028.1:n.764_767del, NR_045028.1:n.765_767del, NR_045028.1:n.766_767del, NR_045028.1:n.767del, NR_045028.1:n.767dup, NR_045028.1:n.766_767dup, NR_045028.1:n.765_767dup, NR_045028.1:n.764_767dup, NR_045028.1:n.763_767dup, NM_152350.1:c.*274_*277del, NM_152350.1:c.*275_*277del, NM_152350.1:c.*276_*277del, NM_152350.1:c.*277del, NM_152350.1:c.*277dup, NM_152350.1:c.*276_*277dup, NM_152350.1:c.*275_*277dup, NM_152350.1:c.*274_*277dup, NM_152350.1:c.*273_*277dup, NR_045027.1:n.720_723del, NR_045027.1:n.721_723del, NR_045027.1:n.722_723del, NR_045027.1:n.723del, NR_045027.1:n.723dup, NR_045027.1:n.722_723dup, NR_045027.1:n.721_723dup, NR_045027.1:n.720_723dup, NR_045027.1:n.719_723dup, NR_027163.1:n.687_690del, NR_027163.1:n.688_690del, NR_027163.1:n.689_690del, NR_027163.1:n.690del, NR_027163.1:n.690dup, NR_027163.1:n.689_690dup, NR_027163.1:n.688_690dup, NR_027163.1:n.687_690dup, NR_027163.1:n.686_690dup, NR_027164.1:n.634_637del, NR_027164.1:n.635_637del, NR_027164.1:n.636_637del, NR_027164.1:n.637del, NR_027164.1:n.637dup, NR_027164.1:n.636_637dup, NR_027164.1:n.635_637dup, NR_027164.1:n.634_637dup, NR_027164.1:n.633_637dup, NR_027169.1:n.630_633del, NR_027169.1:n.631_633del, NR_027169.1:n.632_633del, NR_027169.1:n.633del, NR_027169.1:n.633dup, NR_027169.1:n.632_633dup, NR_027169.1:n.631_633dup, NR_027169.1:n.630_633dup, NR_027169.1:n.629_633dup, NR_045022.1:n.629_632del, NR_045022.1:n.630_632del, NR_045022.1:n.631_632del, NR_045022.1:n.632del, NR_045022.1:n.632dup, NR_045022.1:n.631_632dup, NR_045022.1:n.630_632dup, NR_045022.1:n.629_632dup, NR_045022.1:n.628_632dup, NR_045029.1:n.585_588del, NR_045029.1:n.586_588del, NR_045029.1:n.587_588del, NR_045029.1:n.588del, NR_045029.1:n.588dup, NR_045029.1:n.587_588dup, NR_045029.1:n.586_588dup, NR_045029.1:n.585_588dup, NR_045029.1:n.584_588dup, NR_027167.1:n.577_580del, NR_027167.1:n.578_580del, NR_027167.1:n.579_580del, NR_027167.1:n.580del, NR_027167.1:n.580dup, NR_027167.1:n.579_580dup, NR_027167.1:n.578_580dup, NR_027167.1:n.577_580dup, NR_027167.1:n.576_580dup, NR_027170.1:n.555_558del, NR_027170.1:n.556_558del, NR_027170.1:n.557_558del, NR_027170.1:n.558del, NR_027170.1:n.558dup, NR_027170.1:n.557_558dup, NR_027170.1:n.556_558dup, NR_027170.1:n.555_558dup, NR_027170.1:n.554_558dup, NR_027166.1:n.511_514del, NR_027166.1:n.512_514del, NR_027166.1:n.513_514del, NR_027166.1:n.514del, NR_027166.1:n.514dup, NR_027166.1:n.513_514dup, NR_027166.1:n.512_514dup, NR_027166.1:n.511_514dup, NR_027166.1:n.510_514dup, NR_027165.1:n.498_501del, NR_027165.1:n.499_501del, NR_027165.1:n.500_501del, NR_027165.1:n.501del, NR_027165.1:n.501dup, NR_027165.1:n.500_501dup, NR_027165.1:n.499_501dup, NR_027165.1:n.498_501dup, NR_027165.1:n.497_501dup, NR_045021.1:n.490_493del, NR_045021.1:n.491_493del, NR_045021.1:n.492_493del, NR_045021.1:n.493del, NR_045021.1:n.493dup, NR_045021.1:n.492_493dup, NR_045021.1:n.491_493dup, NR_045021.1:n.490_493dup, NR_045021.1:n.489_493dup, NR_027158.1:n.454_457del, NR_027158.1:n.455_457del, NR_027158.1:n.456_457del, NR_027158.1:n.457del, NR_027158.1:n.457dup, NR_027158.1:n.456_457dup, NR_027158.1:n.455_457dup, NR_027158.1:n.454_457dup, NR_027158.1:n.453_457dup

Select item 144636641616.

rs1446366416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439042 (GRCh38)
17:16342356 (GRCh37)
Canonical SPDI:: NC_000017.11:16439041:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.16439042C>T, NC_000017.10:g.16342356C>T, NM_152350.3:c.-100C>T, NR_027162.1:n.56C>T, NR_027160.1:n.56C>T, NR_027161.1:n.56C>T, NR_027667.1:n.56C>T, NR_027159.1:n.56C>T, NR_045028.1:n.56C>T, NR_027176.1:n.56C>T, NR_045027.1:n.56C>T, NR_027163.1:n.56C>T, NR_027164.1:n.56C>T, NR_027169.1:n.56C>T, NR_045022.1:n.56C>T, NR_045029.1:n.56C>T, NR_027167.1:n.56C>T, NR_027170.1:n.56C>T, NR_027166.1:n.56C>T, NR_027165.1:n.56C>T, NR_045021.1:n.56C>T, NR_027171.1:n.56C>T, NR_027173.1:n.56C>T, NR_027178.1:n.56C>T, NR_027158.1:n.56C>T, NR_027177.1:n.56C>T, NR_027174.1:n.56C>T, NR_045024.1:n.56C>T, NR_027175.1:n.56C>T, NR_045023.1:n.56C>T, NR_045026.1:n.56C>T, NR_045025.1:n.56C>T, NR_027179.1:n.56C>T

Select item 144533790517.

rs1445337905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16441666 (GRCh38)
17:16344980 (GRCh37)
Canonical SPDI:: NC_000017.11:16441665:C:T
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441666C>T, NC_000017.10:g.16344980C>T, NM_207387.4:c.*2202G>A, NM_001113567.3:c.*1922G>A, NM_152350.3:c.*349C>T, XM_017024620.2:c.*1922G>A, XM_017024619.2:c.*1922G>A, NM_152350.2:c.*350C>T, NR_027168.2:n.679C>T, XM_047435961.1:c.*1922G>A, NR_027162.1:n.1029C>T, NR_027160.1:n.976C>T, NR_027161.1:n.972C>T, NR_027667.1:n.897C>T, NR_027159.1:n.853C>T, NR_045028.1:n.840C>T, NM_152350.1:c.*350C>T, NR_045027.1:n.796C>T, NR_027163.1:n.763C>T, NR_027164.1:n.710C>T, NR_027169.1:n.706C>T, NR_045022.1:n.705C>T, NR_045029.1:n.661C>T, NR_027167.1:n.653C>T, NR_027170.1:n.631C>T, NR_027166.1:n.587C>T, NR_027165.1:n.574C>T, NR_045021.1:n.566C>T, NR_027158.1:n.530C>T

Select item 144404671118.

rs1444046711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:16439056 (GRCh38)
17:16342370 (GRCh37)
Canonical SPDI:: NC_000017.11:16439055:T:C,NC_000017.11:16439055:T:G
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.16439056T>C, NC_000017.11:g.16439056T>G, NC_000017.10:g.16342370T>C, NC_000017.10:g.16342370T>G, NM_152350.3:c.-86T>C, NM_152350.3:c.-86T>G, NM_152350.2:c.-86T>C, NM_152350.2:c.-86T>G, NR_027162.1:n.70T>C, NR_027162.1:n.70T>G, NR_027160.1:n.70T>C, NR_027160.1:n.70T>G, NR_027161.1:n.70T>C, NR_027161.1:n.70T>G, NR_027667.1:n.70T>C, NR_027667.1:n.70T>G, NR_027159.1:n.70T>C, NR_027159.1:n.70T>G, NR_045028.1:n.70T>C, NR_045028.1:n.70T>G, NM_152350.1:c.-86T>C, NM_152350.1:c.-86T>G, NR_027176.1:n.70T>C, NR_027176.1:n.70T>G, NR_045027.1:n.70T>C, NR_045027.1:n.70T>G, NR_027163.1:n.70T>C, NR_027163.1:n.70T>G, NR_027164.1:n.70T>C, NR_027164.1:n.70T>G, NR_027169.1:n.70T>C, NR_027169.1:n.70T>G, NR_045022.1:n.70T>C, NR_045022.1:n.70T>G, NR_045029.1:n.70T>C, NR_045029.1:n.70T>G, NR_027167.1:n.70T>C, NR_027167.1:n.70T>G, NR_027170.1:n.70T>C, NR_027170.1:n.70T>G, NR_027166.1:n.70T>C, NR_027166.1:n.70T>G, NR_027165.1:n.70T>C, NR_027165.1:n.70T>G, NR_045021.1:n.70T>C, NR_045021.1:n.70T>G, NR_027171.1:n.70T>C, NR_027171.1:n.70T>G, NR_027173.1:n.70T>C, NR_027173.1:n.70T>G, NR_027178.1:n.70T>C, NR_027178.1:n.70T>G, NR_027158.1:n.70T>C, NR_027158.1:n.70T>G, NR_027177.1:n.70T>C, NR_027177.1:n.70T>G, NR_027174.1:n.70T>C, NR_027174.1:n.70T>G, NR_045024.1:n.70T>C, NR_045024.1:n.70T>G, NR_027175.1:n.70T>C, NR_027175.1:n.70T>G, NR_045023.1:n.70T>C, NR_045023.1:n.70T>G, NR_045026.1:n.70T>C, NR_045026.1:n.70T>G, NR_045025.1:n.70T>C, NR_045025.1:n.70T>G, NR_027179.1:n.70T>C, NR_027179.1:n.70T>G

Select item 144036201919.

rs1440362019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:16439343 (GRCh38)
17:16342657 (GRCh37)
Canonical SPDI:: NC_000017.11:16439342:G:A,NC_000017.11:16439342:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439343G>A, NC_000017.11:g.16439343G>C, NC_000017.10:g.16342657G>A, NC_000017.10:g.16342657G>C, NM_152350.3:c.202G>A, NM_152350.3:c.202G>C, NM_152350.2:c.202G>A, NM_152350.2:c.202G>C, NR_027168.2:n.60G>A, NR_027168.2:n.60G>C, NR_027172.2:n.60G>A, NR_027172.2:n.60G>C, NR_027162.1:n.357G>A, NR_027162.1:n.357G>C, NR_027160.1:n.357G>A, NR_027160.1:n.357G>C, NR_027161.1:n.357G>A, NR_027161.1:n.357G>C, NR_027667.1:n.357G>A, NR_027667.1:n.357G>C, NR_027159.1:n.357G>A, NR_027159.1:n.357G>C, NR_045028.1:n.357G>A, NR_045028.1:n.357G>C, NM_152350.1:c.202G>A, NM_152350.1:c.202G>C, NR_027176.1:n.91G>A, NR_027176.1:n.91G>C, NR_045027.1:n.357G>A, NR_045027.1:n.357G>C, NR_027163.1:n.91G>A, NR_027163.1:n.91G>C, NR_027164.1:n.91G>A, NR_027164.1:n.91G>C, NR_027169.1:n.91G>A, NR_027169.1:n.91G>C, NR_045022.1:n.91G>A, NR_045022.1:n.91G>C, NR_045029.1:n.91G>A, NR_045029.1:n.91G>C, NR_027167.1:n.91G>A, NR_027167.1:n.91G>C, NR_027170.1:n.91G>A, NR_027170.1:n.91G>C, NR_027166.1:n.91G>A, NR_027166.1:n.91G>C, NR_027165.1:n.91G>A, NR_027165.1:n.91G>C, NR_045021.1:n.91G>A, NR_045021.1:n.91G>C, NR_027171.1:n.357G>A, NR_027171.1:n.357G>C, NR_027173.1:n.91G>A, NR_027173.1:n.91G>C, NR_027178.1:n.91G>A, NR_027178.1:n.91G>C, NR_027158.1:n.91G>A, NR_027158.1:n.91G>C, NR_027177.1:n.91G>A, NR_027177.1:n.91G>C, NR_027174.1:n.91G>A, NR_027174.1:n.91G>C, NR_045024.1:n.357G>A, NR_045024.1:n.357G>C, NR_027175.1:n.91G>A, NR_027175.1:n.91G>C, NR_045023.1:n.91G>A, NR_045023.1:n.91G>C, NR_045026.1:n.91G>A, NR_045026.1:n.91G>C, NR_027179.1:n.91G>A, NR_027179.1:n.91G>C

Select item 143808981920.

rs1438089819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439016 (GRCh38)
17:16342330 (GRCh37)
Canonical SPDI:: NC_000017.11:16439015:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439016C>T, NC_000017.10:g.16342330C>T, NM_152350.3:c.-126C>T, NR_027168.2:n.30C>T, NR_027172.2:n.30C>T, NR_027162.1:n.30C>T, NR_027160.1:n.30C>T, NR_027161.1:n.30C>T, NR_027667.1:n.30C>T, NR_027159.1:n.30C>T, NR_045028.1:n.30C>T, NR_027176.1:n.30C>T, NR_045027.1:n.30C>T, NR_027163.1:n.30C>T, NR_027164.1:n.30C>T, NR_027169.1:n.30C>T, NR_045022.1:n.30C>T, NR_045029.1:n.30C>T, NR_027167.1:n.30C>T, NR_027170.1:n.30C>T, NR_027166.1:n.30C>T, NR_027165.1:n.30C>T, NR_045021.1:n.30C>T, NR_027171.1:n.30C>T, NR_027173.1:n.30C>T, NR_027178.1:n.30C>T, NR_027158.1:n.30C>T, NR_027177.1:n.30C>T, NR_027174.1:n.30C>T, NR_045024.1:n.30C>T, NR_027175.1:n.30C>T, NR_045023.1:n.30C>T, NR_045026.1:n.30C>T, NR_045025.1:n.30C>T, NR_027179.1:n.30C>T

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