SNP Links for Nucleotide (Select 95147683) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 26

<< First< Prev

Page of 2

Next >Last >>

Select item 14584521931.

rs1458452193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541118 (GRCh38)
6:31508895 (GRCh37)
Canonical SPDI:: NC_000006.12:31541117:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31541118G>A, NC_000006.11:g.31508895G>A, NT_113891.3:g.3018448G>A, NT_113891.2:g.3018554G>A, NT_167248.2:g.2796974G>A, NT_167248.1:g.2802570G>A, NT_167245.2:g.2788888G>A, NT_167245.1:g.2794473G>A, NT_167249.2:g.2840402G>A, NT_167249.1:g.2839700G>A, NT_167246.2:g.2846171G>A, NT_167246.1:g.2851791G>A, NT_167247.2:g.2883057G>A, NT_167247.1:g.2888642G>A, NR_003065.1:n.61C>T

Select item 14538775662.

rs1453877566 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:31541116 (GRCh38)
6:31508894 (GRCh37)
Canonical SPDI:: NC_000006.12:31541116:T:TT
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000045/12 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.31541117dup, NC_000006.11:g.31508894dup, NT_113891.3:g.3018447dup, NT_113891.2:g.3018553dup, NT_167248.2:g.2796973dup, NT_167248.1:g.2802569dup, NT_167245.2:g.2788887dup, NT_167245.1:g.2794472dup, NT_167249.2:g.2840401dup, NT_167249.1:g.2839699dup, NT_167246.2:g.2846170dup, NT_167246.1:g.2851790dup, NT_167247.2:g.2883056dup, NT_167247.1:g.2888641dup, NR_003065.1:n.62dup

Select item 13321398663.

rs1332139866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31541139 (GRCh38)
6:31508916 (GRCh37)
Canonical SPDI:: NC_000006.12:31541138:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31541139C>T, NC_000006.11:g.31508916C>T, NT_113891.3:g.3018469C>T, NT_113891.2:g.3018575C>T, NT_167248.2:g.2796995C>T, NT_167248.1:g.2802591C>T, NT_167245.2:g.2788909C>T, NT_167245.1:g.2794494C>T, NT_167249.2:g.2840423C>T, NT_167249.1:g.2839721C>T, NT_167246.2:g.2846192C>T, NT_167246.1:g.2851812C>T, NT_167247.2:g.2883078C>T, NT_167247.1:g.2888663C>T, NR_003065.1:n.40G>A

Select item 13218591614.

rs1321859161 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 6:31541167 (GRCh38)
6:31508944 (GRCh37)
Canonical SPDI:: NC_000006.12:31541165:AACA:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31541167_31541169del, NC_000006.11:g.31508944_31508946del, NT_113891.3:g.3018497_3018499del, NT_113891.2:g.3018603_3018605del, NT_167248.2:g.2797023_2797025del, NT_167248.1:g.2802619_2802621del, NT_167245.2:g.2788937_2788939del, NT_167245.1:g.2794522_2794524del, NT_167249.2:g.2840451_2840453del, NT_167249.1:g.2839749_2839751del, NT_167246.2:g.2846220_2846222del, NT_167246.1:g.2851840_2851842del, NT_167247.2:g.2883106_2883108del, NT_167247.1:g.2888691_2888693del, NR_003065.1:n.11_13del

Select item 13077344675.

rs1307734467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31541123 (GRCh38)
6:31508900 (GRCh37)
Canonical SPDI:: NC_000006.12:31541122:A:G
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31541123A>G, NC_000006.11:g.31508900A>G, NT_113891.3:g.3018453A>G, NT_113891.2:g.3018559A>G, NT_167248.2:g.2796979A>G, NT_167248.1:g.2802575A>G, NT_167245.2:g.2788893A>G, NT_167245.1:g.2794478A>G, NT_167249.2:g.2840407A>G, NT_167249.1:g.2839705A>G, NT_167246.2:g.2846176A>G, NT_167246.1:g.2851796A>G, NT_167247.2:g.2883062A>G, NT_167247.1:g.2888647A>G, NR_003065.1:n.56T>C

Select item 12327725176.

rs1232772517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541122 (GRCh38)
6:31508899 (GRCh37)
Canonical SPDI:: NC_000006.12:31541121:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31541122G>A, NC_000006.11:g.31508899G>A, NT_113891.3:g.3018452G>A, NT_113891.2:g.3018558G>A, NT_167248.2:g.2796978G>A, NT_167248.1:g.2802574G>A, NT_167245.2:g.2788892G>A, NT_167245.1:g.2794477G>A, NT_167249.2:g.2840406G>A, NT_167249.1:g.2839704G>A, NT_167246.2:g.2846175G>A, NT_167246.1:g.2851795G>A, NT_167247.2:g.2883061G>A, NT_167247.1:g.2888646G>A, NR_003065.1:n.57C>T

Select item 12265782987.

rs1226578298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31541153 (GRCh38)
6:31508930 (GRCh37)
Canonical SPDI:: NC_000006.12:31541152:C:G,NC_000006.12:31541152:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31541153C>G, NC_000006.12:g.31541153C>T, NC_000006.11:g.31508930C>G, NC_000006.11:g.31508930C>T, NT_113891.3:g.3018483C>G, NT_113891.3:g.3018483C>T, NT_113891.2:g.3018589C>G, NT_113891.2:g.3018589C>T, NT_167248.2:g.2797009C>G, NT_167248.2:g.2797009C>T, NT_167248.1:g.2802605C>G, NT_167248.1:g.2802605C>T, NT_167245.2:g.2788923C>G, NT_167245.2:g.2788923C>T, NT_167245.1:g.2794508C>G, NT_167245.1:g.2794508C>T, NT_167249.2:g.2840437C>G, NT_167249.2:g.2840437C>T, NT_167249.1:g.2839735C>G, NT_167249.1:g.2839735C>T, NT_167246.2:g.2846206C>G, NT_167246.2:g.2846206C>T, NT_167246.1:g.2851826C>G, NT_167246.1:g.2851826C>T, NT_167247.2:g.2883092C>G, NT_167247.2:g.2883092C>T, NT_167247.1:g.2888677C>G, NT_167247.1:g.2888677C>T, NR_003065.1:n.26G>C, NR_003065.1:n.26G>A

Select item 11803137408.

rs1180313740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541109 (GRCh38)
6:31508886 (GRCh37)
Canonical SPDI:: NC_000006.12:31541108:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31541109G>A, NC_000006.11:g.31508886G>A, NT_113891.3:g.3018439G>A, NT_113891.2:g.3018545G>A, NT_167248.2:g.2796965G>A, NT_167248.1:g.2802561G>A, NT_167245.2:g.2788879G>A, NT_167245.1:g.2794464G>A, NT_167249.2:g.2840393G>A, NT_167249.1:g.2839691G>A, NT_167246.2:g.2846162G>A, NT_167246.1:g.2851782G>A, NT_167247.2:g.2883048G>A, NT_167247.1:g.2888633G>A, NR_003065.1:n.70C>T

Select item 10500722449.

rs1050072244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31541120 (GRCh38)
6:31508897 (GRCh37)
Canonical SPDI:: NC_000006.12:31541119:T:C
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31541120T>C, NC_000006.11:g.31508897T>C, NT_113891.3:g.3018450T>C, NT_113891.2:g.3018556T>C, NT_167248.2:g.2796976T>C, NT_167248.1:g.2802572T>C, NT_167245.2:g.2788890T>C, NT_167245.1:g.2794475T>C, NT_167249.2:g.2840404T>C, NT_167249.1:g.2839702T>C, NT_167246.2:g.2846173T>C, NT_167246.1:g.2851793T>C, NT_167247.2:g.2883059T>C, NT_167247.1:g.2888644T>C, NR_003065.1:n.59A>G

Select item 94728421310.

rs947284213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31541152 (GRCh38)
6:31508929 (GRCh37)
Canonical SPDI:: NC_000006.12:31541151:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.31541152C>T, NC_000006.11:g.31508929C>T, NT_113891.3:g.3018482C>T, NT_113891.2:g.3018588C>T, NT_167248.2:g.2797008C>T, NT_167248.1:g.2802604C>T, NT_167245.2:g.2788922C>T, NT_167245.1:g.2794507C>T, NT_167249.2:g.2840436C>T, NT_167249.1:g.2839734C>T, NT_167246.2:g.2846205C>T, NT_167246.1:g.2851825C>T, NT_167247.2:g.2883091C>T, NT_167247.1:g.2888676C>T, NR_003065.1:n.27G>A

Select item 88971047311.

rs889710473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541138 (GRCh38)
6:31508915 (GRCh37)
Canonical SPDI:: NC_000006.12:31541137:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.31541138G>A, NC_000006.11:g.31508915G>A, NT_113891.3:g.3018468G>A, NT_113891.2:g.3018574G>A, NT_167248.2:g.2796994G>A, NT_167248.1:g.2802590G>A, NT_167245.2:g.2788908G>A, NT_167245.1:g.2794493G>A, NT_167249.2:g.2840422G>A, NT_167249.1:g.2839720G>A, NT_167246.2:g.2846191G>A, NT_167246.1:g.2851811G>A, NT_167247.2:g.2883077G>A, NT_167247.1:g.2888662G>A, NR_003065.1:n.41C>T

Select item 77492420112.

rs774924201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31541104 (GRCh38)
6:31508881 (GRCh37)
Canonical SPDI:: NC_000006.12:31541103:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541104C>T, NC_000006.11:g.31508881C>T, NT_113891.3:g.3018434C>T, NT_113891.2:g.3018540C>T, NT_167248.2:g.2796960C>T, NT_167248.1:g.2802556C>T, NT_167245.2:g.2788874C>T, NT_167245.1:g.2794459C>T, NT_167249.2:g.2840388C>T, NT_167249.1:g.2839686C>T, NT_167246.2:g.2846157C>T, NT_167246.1:g.2851777C>T, NT_167247.2:g.2883043C>T, NT_167247.1:g.2888628C>T, NR_003065.1:n.75G>A

Select item 77464132913.

rs774641329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:31541114 (GRCh38)
6:31508891 (GRCh37)
Canonical SPDI:: NC_000006.12:31541113:G:A,NC_000006.12:31541113:G:C
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000026/3 (ExAC)
HGVS:: NC_000006.12:g.31541114G>A, NC_000006.12:g.31541114G>C, NC_000006.11:g.31508891G>A, NC_000006.11:g.31508891G>C, NT_113891.3:g.3018444G>A, NT_113891.3:g.3018444G>C, NT_113891.2:g.3018550G>A, NT_113891.2:g.3018550G>C, NT_167248.2:g.2796970G>A, NT_167248.2:g.2796970G>C, NT_167248.1:g.2802566G>A, NT_167248.1:g.2802566G>C, NT_167245.2:g.2788884G>A, NT_167245.2:g.2788884G>C, NT_167245.1:g.2794469G>A, NT_167245.1:g.2794469G>C, NT_167249.2:g.2840398G>A, NT_167249.2:g.2840398G>C, NT_167249.1:g.2839696G>A, NT_167249.1:g.2839696G>C, NT_167246.2:g.2846167G>A, NT_167246.2:g.2846167G>C, NT_167246.1:g.2851787G>A, NT_167246.1:g.2851787G>C, NT_167247.2:g.2883053G>A, NT_167247.2:g.2883053G>C, NT_167247.1:g.2888638G>A, NT_167247.1:g.2888638G>C, NR_003065.1:n.65C>T, NR_003065.1:n.65C>G

Select item 77339138214.

rs773391382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541127 (GRCh38)
6:31508904 (GRCh37)
Canonical SPDI:: NC_000006.12:31541126:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541127G>A, NC_000006.11:g.31508904G>A, NT_113891.3:g.3018457G>A, NT_113891.2:g.3018563G>A, NT_167248.2:g.2796983G>A, NT_167248.1:g.2802579G>A, NT_167245.2:g.2788897G>A, NT_167245.1:g.2794482G>A, NT_167249.2:g.2840411G>A, NT_167249.1:g.2839709G>A, NT_167246.2:g.2846180G>A, NT_167246.1:g.2851800G>A, NT_167247.2:g.2883066G>A, NT_167247.1:g.2888651G>A, NR_003065.1:n.52C>T

Select item 76904981115.

rs769049811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31541108 (GRCh38)
6:31508885 (GRCh37)
Canonical SPDI:: NC_000006.12:31541107:A:G
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541108A>G, NC_000006.11:g.31508885A>G, NT_113891.3:g.3018438A>G, NT_113891.2:g.3018544A>G, NT_167248.2:g.2796964A>G, NT_167248.1:g.2802560A>G, NT_167245.2:g.2788878A>G, NT_167245.1:g.2794463A>G, NT_167249.2:g.2840392A>G, NT_167249.1:g.2839690A>G, NT_167246.2:g.2846161A>G, NT_167246.1:g.2851781A>G, NT_167247.2:g.2883047A>G, NT_167247.1:g.2888632A>G, NR_003065.1:n.71T>C

Select item 76768658316.

rs767686583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31541125 (GRCh38)
6:31508902 (GRCh37)
Canonical SPDI:: NC_000006.12:31541124:G:A
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541125G>A, NC_000006.11:g.31508902G>A, NT_113891.3:g.3018455G>A, NT_113891.2:g.3018561G>A, NT_167248.2:g.2796981G>A, NT_167248.1:g.2802577G>A, NT_167245.2:g.2788895G>A, NT_167245.1:g.2794480G>A, NT_167249.2:g.2840409G>A, NT_167249.1:g.2839707G>A, NT_167246.2:g.2846178G>A, NT_167246.1:g.2851798G>A, NT_167247.2:g.2883064G>A, NT_167247.1:g.2888649G>A, NR_003065.1:n.54C>T

Select item 76645462317.

rs766454623 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 6:31541171 (GRCh38)
6:31508948 (GRCh37)
Canonical SPDI:: NC_000006.12:31541167:CATCAT:CAT
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCAT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000009/1 (ExAC)
-=0.000093/13 (GnomAD)
-=0.000128/34 (TOPMED)
HGVS:: NC_000006.12:g.31541168CAT[1], NC_000006.11:g.31508945CAT[1], NT_113891.3:g.3018498CAT[1], NT_113891.2:g.3018604CAT[1], NT_167248.2:g.2797024CAT[1], NT_167248.1:g.2802620CAT[1], NT_167245.2:g.2788938CAT[1], NT_167245.1:g.2794523CAT[1], NT_167249.2:g.2840452CAT[1], NT_167249.1:g.2839750CAT[1], NT_167246.2:g.2846221CAT[1], NT_167246.1:g.2851841CAT[1], NT_167247.2:g.2883107CAT[1], NT_167247.1:g.2888692CAT[1], NR_003065.1:n.6ATG[1]

Select item 76394808518.

rs763948085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31541171 (GRCh38)
6:31508948 (GRCh37)
Canonical SPDI:: NC_000006.12:31541170:C:G
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541171C>G, NC_000006.11:g.31508948C>G, NT_113891.3:g.3018501C>G, NT_113891.2:g.3018607C>G, NT_167248.2:g.2797027C>G, NT_167248.1:g.2802623C>G, NT_167245.2:g.2788941C>G, NT_167245.1:g.2794526C>G, NT_167249.2:g.2840455C>G, NT_167249.1:g.2839753C>G, NT_167246.2:g.2846224C>G, NT_167246.1:g.2851844C>G, NT_167247.2:g.2883110C>G, NT_167247.1:g.2888695C>G, NR_003065.1:n.8G>C

Select item 76093567919.

rs760935679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:31541136 (GRCh38)
6:31508913 (GRCh37)
Canonical SPDI:: NC_000006.12:31541135:C:A,NC_000006.12:31541135:C:T
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.31541136C>A, NC_000006.12:g.31541136C>T, NC_000006.11:g.31508913C>A, NC_000006.11:g.31508913C>T, NT_113891.3:g.3018466C>A, NT_113891.3:g.3018466C>T, NT_113891.2:g.3018572C>A, NT_113891.2:g.3018572C>T, NT_167248.2:g.2796992C>A, NT_167248.2:g.2796992C>T, NT_167248.1:g.2802588C>A, NT_167248.1:g.2802588C>T, NT_167245.2:g.2788906C>A, NT_167245.2:g.2788906C>T, NT_167245.1:g.2794491C>A, NT_167245.1:g.2794491C>T, NT_167249.2:g.2840420C>A, NT_167249.2:g.2840420C>T, NT_167249.1:g.2839718C>A, NT_167249.1:g.2839718C>T, NT_167246.2:g.2846189C>A, NT_167246.2:g.2846189C>T, NT_167246.1:g.2851809C>A, NT_167246.1:g.2851809C>T, NT_167247.2:g.2883075C>A, NT_167247.2:g.2883075C>T, NT_167247.1:g.2888660C>A, NT_167247.1:g.2888660C>T, NR_003065.1:n.43G>T, NR_003065.1:n.43G>A

Select item 76064449320.

rs760644493 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:31541117 (GRCh38)
6:31508895 (GRCh37)
Canonical SPDI:: NC_000006.12:31541117:G:GG
Gene:: DDX39B (Varview), SNORD84 (Varview), ATP6V1G2-DDX39B (Varview), DDX39B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000006.12:g.31541118dup, NC_000006.11:g.31508895dup, NT_113891.3:g.3018448dup, NT_113891.2:g.3018554dup, NT_167248.2:g.2796974dup, NT_167248.1:g.2802570dup, NT_167245.2:g.2788888dup, NT_167245.1:g.2794473dup, NT_167249.2:g.2840402dup, NT_167249.1:g.2839700dup, NT_167246.2:g.2846171dup, NT_167246.1:g.2851791dup, NT_167247.2:g.2883057dup, NT_167247.1:g.2888642dup, NR_003065.1:n.61dup

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Nucleotide (Select 95147683) (26)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: