SNP Links for Nucleotide (Select 224548958) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439590 (GRCh38)
17:16342904 (GRCh37)
Canonical SPDI:: NC_000017.11:16439589:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (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:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439590C>T, NC_000017.10:g.16342904C>T, NR_027168.2:n.141C>T, NR_027162.1:n.491C>T, NR_027160.1:n.438C>T, NR_027161.1:n.491C>T, NR_027163.1:n.225C>T, NR_027164.1:n.172C>T, NR_027169.1:n.225C>T, NR_027167.1:n.172C>T, NR_045026.1:n.225C>T

Select item 14836154157.

rs1483615415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:16439603 (GRCh38)
17:16342917 (GRCh37)
Canonical SPDI:: NC_000017.11:16439602:G:A,NC_000017.11:16439602:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.16439603G>A, NC_000017.11:g.16439603G>C, NC_000017.10:g.16342917G>A, NC_000017.10:g.16342917G>C, NR_027168.2:n.154G>A, NR_027168.2:n.154G>C, NR_027162.1:n.504G>A, NR_027162.1:n.504G>C, NR_027160.1:n.451G>A, NR_027160.1:n.451G>C, NR_027161.1:n.504G>A, NR_027161.1:n.504G>C, NR_027163.1:n.238G>A, NR_027163.1:n.238G>C, NR_027164.1:n.185G>A, NR_027164.1:n.185G>C, NR_027169.1:n.238G>A, NR_027169.1:n.238G>C, NR_027167.1:n.185G>A, NR_027167.1:n.185G>C, NR_045026.1:n.238G>A, NR_045026.1:n.238G>C

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 146632986813.

rs1466329868 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTC [Show Flanks]
Chromosome:: 17:16439562 (GRCh38)
17:16342877 (GRCh37)
Canonical SPDI:: NC_000017.11:16439562::CTC
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.16439562_16439563insCTC, NC_000017.10:g.16342876_16342877insCTC, NR_027162.1:n.463_464insCTC, NR_027161.1:n.463_464insCTC, NR_027163.1:n.197_198insCTC, NR_027169.1:n.197_198insCTC, NR_045026.1:n.197_198insCTC

Select item 146592575314.

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 146382140815.

rs1463821408 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:16439559 (GRCh38)
17:16342873 (GRCh37)
Canonical SPDI:: NC_000017.11:16439558:T:
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16439559del, NC_000017.10:g.16342873del, NR_027162.1:n.460del, NR_027161.1:n.460del, NR_027163.1:n.194del, NR_027169.1:n.194del, NR_045026.1:n.194del

Select item 146308415416.

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 145976508917.

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 145952662118.

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 145840863219.

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 145588384120.

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

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