SNP Links for Nucleotide (Select 224548954) - 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 14899029782.

rs1489902978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439169 (GRCh38)
17:16342483 (GRCh37)
Canonical SPDI:: NC_000017.11:16439168:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.16439169C>T, NC_000017.10:g.16342483C>T, NM_152350.3:c.28C>T, NM_152350.2:c.28C>T, NR_027162.1:n.183C>T, NR_027160.1:n.183C>T, NR_027161.1:n.183C>T, NR_027667.1:n.183C>T, NR_027159.1:n.183C>T, NR_045028.1:n.183C>T, NM_152350.1:c.28C>T, NR_045027.1:n.183C>T, NR_027171.1:n.183C>T, NR_045024.1:n.183C>T

Select item 14891097903.

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 14882615494.

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 14874140715.

rs1487414071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:16441084 (GRCh38)
17:16344398 (GRCh37)
Canonical SPDI:: NC_000017.11:16441082:ACA:A
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.16441084_16441085del, NC_000017.10:g.16344398_16344399del, NM_152350.3:c.*4_*5del, NM_152350.2:c.*4_*5del, NR_027168.2:n.334_335del, NR_027172.2:n.211_212del, NR_027162.1:n.684_685del, NR_027160.1:n.631_632del, NR_027667.1:n.552_553del, NR_027159.1:n.508_509del, NM_152350.1:c.*4_*5del, NR_027163.1:n.418_419del, NR_027164.1:n.365_366del, NR_045022.1:n.360_361del, NR_045029.1:n.316_317del, NR_027170.1:n.286_287del, NR_027166.1:n.242_243del, NR_045021.1:n.221_222del, NR_027171.1:n.508_509del, NR_027173.1:n.242_243del, NR_027178.1:n.242_243del, NR_027177.1:n.242_243del, NR_027174.1:n.242_243del, NR_045024.1:n.508_509del, NR_027175.1:n.242_243del, NR_045026.1:n.418_419del, NR_045025.1:n.154_155del, NR_027179.1:n.242_243del

Select item 14858457846.

rs1485845784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16441089 (GRCh38)
17:16344403 (GRCh37)
Canonical SPDI:: NC_000017.11:16441088:T:C
Gene:: SNHG29 (Varview), LRRC75A (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.16441089T>C, NC_000017.10:g.16344403T>C, NM_152350.3:c.*9T>C, NM_152350.2:c.*9T>C, NR_027168.2:n.339T>C, NR_027172.2:n.216T>C, NR_027162.1:n.689T>C, NR_027160.1:n.636T>C, NR_027667.1:n.557T>C, NR_027159.1:n.513T>C, NM_152350.1:c.*9T>C, NR_027163.1:n.423T>C, NR_027164.1:n.370T>C, NR_045022.1:n.365T>C, NR_045029.1:n.321T>C, NR_027170.1:n.291T>C, NR_027166.1:n.247T>C, NR_045021.1:n.226T>C, NR_027171.1:n.513T>C, NR_027173.1:n.247T>C, NR_027178.1:n.247T>C, NR_027177.1:n.247T>C, NR_027174.1:n.247T>C, NR_045024.1:n.513T>C, NR_027175.1:n.247T>C, NR_045026.1:n.423T>C, NR_045025.1:n.159T>C, NR_027179.1:n.247T>C

Select item 14836603997.

rs1483660399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:16439091 (GRCh38)
17:16342405 (GRCh37)
Canonical SPDI:: NC_000017.11:16439090:C:G,NC_000017.11:16439090:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000017.11:g.16439091C>G, NC_000017.11:g.16439091C>T, NC_000017.10:g.16342405C>G, NC_000017.10:g.16342405C>T, NM_152350.3:c.-51C>G, NM_152350.3:c.-51C>T, NM_152350.2:c.-51C>G, NM_152350.2:c.-51C>T, NR_027162.1:n.105C>G, NR_027162.1:n.105C>T, NR_027160.1:n.105C>G, NR_027160.1:n.105C>T, NR_027161.1:n.105C>G, NR_027161.1:n.105C>T, NR_027667.1:n.105C>G, NR_027667.1:n.105C>T, NR_027159.1:n.105C>G, NR_027159.1:n.105C>T, NR_045028.1:n.105C>G, NR_045028.1:n.105C>T, NM_152350.1:c.-51C>G, NM_152350.1:c.-51C>T, NR_045027.1:n.105C>G, NR_045027.1:n.105C>T, NR_027171.1:n.105C>G, NR_027171.1:n.105C>T, NR_045024.1:n.105C>G, NR_045024.1:n.105C>T

Select item 14834708348.

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 14832497039.

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 147170293810.

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 146828922111.

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 146652376212.

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 146592575313.

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 146308415414.

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 145976508915.

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 145952662116.

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 145840863217.

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 145588384118.

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 145201801519.

rs1452018015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439230 (GRCh38)
17:16342544 (GRCh37)
Canonical SPDI:: NC_000017.11:16439229:C:T
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:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.16439230C>T, NC_000017.10:g.16342544C>T, NM_152350.3:c.89C>T, NM_152350.2:c.89C>T, NR_027162.1:n.244C>T, NR_027160.1:n.244C>T, NR_027161.1:n.244C>T, NR_027667.1:n.244C>T, NR_027159.1:n.244C>T, NR_045028.1:n.244C>T, NM_152350.1:c.89C>T, NR_045027.1:n.244C>T, NR_027171.1:n.244C>T, NR_045024.1:n.244C>T

Select item 145158111120.

rs1451581111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:16439072 (GRCh38)
17:16342386 (GRCh37)
Canonical SPDI:: NC_000017.11:16439071:A:C
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:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16439072A>C, NC_000017.10:g.16342386A>C, NM_152350.3:c.-70A>C, NM_152350.2:c.-70A>C, NR_027162.1:n.86A>C, NR_027160.1:n.86A>C, NR_027161.1:n.86A>C, NR_027667.1:n.86A>C, NR_027159.1:n.86A>C, NR_045028.1:n.86A>C, NM_152350.1:c.-70A>C, NR_045027.1:n.86A>C, NR_027171.1:n.86A>C, NR_045024.1:n.86A>C

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