SNP Links for Gene (Select 4682) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915135321.

rs1491513532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:10749126 (GRCh38)
16:10842983 (GRCh37)
Canonical SPDI:: NC_000016.10:10749124:ATA:A
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.11448/1358 (ALFA)
-=0.07843/40 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.11068/1788 (TOMMO)
-=0.12113/219 (Korea1K)
-=0.17587/15726 (GnomAD)
-=0.30747/1185 (ALSPAC)
-=0.31688/1175 (TWINSUK)
HGVS:: NC_000016.10:g.10749126_10749127del, NC_000016.9:g.10842983_10842984del

Select item 14912586222.

rs1491258622 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 16:10765263 (GRCh38)
16:10859121 (GRCh37)
Canonical SPDI:: NC_000016.10:10765263:C:CGC
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.10765264_10765265insGC, NC_000016.9:g.10859121_10859122insGC, XR_007064909.1:n.5158_5159insCG, XM_047434604.1:c.*890_*891insCG

Select item 14910525833.

rs1491052583 has merged into rs35848081 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 16:10768319 (GRCh38)
16:10862176 (GRCh37)
Canonical SPDI:: NC_000016.10:10768308:AAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:10768308:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:10768308:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:10768308:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3701/1693 (1000Genomes)
HGVS:: NC_000016.10:g.10768319_10768320del, NC_000016.10:g.10768320del, NC_000016.10:g.10768320dup, NC_000016.10:g.10768319_10768320dup, NC_000016.9:g.10862176_10862177del, NC_000016.9:g.10862177del, NC_000016.9:g.10862177dup, NC_000016.9:g.10862176_10862177dup, NM_001079512.4:c.*792_*793del, NM_001079512.4:c.*793del, NM_001079512.4:c.*793dup, NM_001079512.4:c.*792_*793dup, NM_001079512.3:c.*792_*793del, NM_001079512.3:c.*793del, NM_001079512.3:c.*793dup, NM_001079512.3:c.*792_*793dup, NM_001079512.2:c.*792_*793del, NM_001079512.2:c.*793del, NM_001079512.2:c.*793dup, NM_001079512.2:c.*792_*793dup, XM_017023651.3:c.*1169_*1170del, XM_017023651.3:c.*1170del, XM_017023651.3:c.*1170dup, XM_017023651.3:c.*1169_*1170dup, XM_017023651.2:c.*1169_*1170del, XM_017023651.2:c.*1170del, XM_017023651.2:c.*1170dup, XM_017023651.2:c.*1169_*1170dup, XM_017023651.1:c.*1169_*1170del, XM_017023651.1:c.*1170del, XM_017023651.1:c.*1170dup, XM_017023651.1:c.*1169_*1170dup, NM_001318873.2:c.*792_*793del, NM_001318873.2:c.*793del, NM_001318873.2:c.*793dup, NM_001318873.2:c.*792_*793dup, NM_001318873.1:c.*792_*793del, NM_001318873.1:c.*793del, NM_001318873.1:c.*793dup, NM_001318873.1:c.*792_*793dup, XR_007064909.1:n.2112_2113del, XR_007064909.1:n.2113del, XR_007064909.1:n.2113dup, XR_007064909.1:n.2112_2113dup, XR_007064910.1:n.2112_2113del, XR_007064910.1:n.2113del, XR_007064910.1:n.2113dup, XR_007064910.1:n.2112_2113dup

Select item 14908903294.

rs1490890329 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:10765337 (GRCh38)
16:10859195 (GRCh37)
Canonical SPDI:: NC_000016.10:10765337::G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.10765337_10765338insG, NC_000016.9:g.10859194_10859195insG, XR_007064909.1:n.5084_5085insC, XM_047434604.1:c.*816_*817insC

Select item 14908176815.

rs1490817681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10761196 (GRCh38)
16:10855053 (GRCh37)
Canonical SPDI:: NC_000016.10:10761195:G:A
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.10761196G>A, NC_000016.9:g.10855053G>A, NR_134901.2:n.1592C>T, NR_134901.1:n.1592C>T, NR_134902.2:n.1522C>T, NR_134902.1:n.1522C>T, NR_134906.2:n.1493C>T, NR_134906.1:n.1493C>T, NR_134903.2:n.1484C>T, NR_134903.1:n.1484C>T, NR_134904.2:n.1447C>T, NR_134904.1:n.1447C>T, NR_134905.2:n.1377C>T, NR_134905.1:n.1377C>T

Select item 14907499016.

rs1490749901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10752462 (GRCh38)
16:10846319 (GRCh37)
Canonical SPDI:: NC_000016.10:10752461:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.10752462C>T, NC_000016.9:g.10846319C>T

Select item 14907070927.

rs1490707092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10747489 (GRCh38)
16:10841346 (GRCh37)
Canonical SPDI:: NC_000016.10:10747488:G:A
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.10747489G>A, NC_000016.9:g.10841346G>A

Select item 14906535048.

rs1490653504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:10763925 (GRCh38)
16:10857782 (GRCh37)
Canonical SPDI:: NC_000016.10:10763924:T:A,NC_000016.10:10763924:T:C
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/1 (GnomAD)
C=0.002738/8 (KOREAN)
C=0.003222/54 (TOMMO)
HGVS:: NC_000016.10:g.10763925T>A, NC_000016.10:g.10763925T>C, NC_000016.9:g.10857782T>A, NC_000016.9:g.10857782T>C, XR_007064909.1:n.6497A>T, XR_007064909.1:n.6497A>G, XM_047434604.1:c.*2229A>T, XM_047434604.1:c.*2229A>G

Select item 14905949279.

rs1490594927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10746192 (GRCh38)
16:10840049 (GRCh37)
Canonical SPDI:: NC_000016.10:10746191:A:G
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.10746192A>G, NC_000016.9:g.10840049A>G

Select item 149054169310.

rs1490541693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:10758824 (GRCh38)
16:10852681 (GRCh37)
Canonical SPDI:: NC_000016.10:10758823:G:C
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.10758824G>C, NC_000016.9:g.10852681G>C

Select item 149049493311.

rs1490494933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:10741446 (GRCh38)
16:10835303 (GRCh37)
Canonical SPDI:: NC_000016.10:10741445:C:G
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.10741446C>G, NC_000016.9:g.10835303C>G

Select item 149033501612.

rs1490335016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10751588 (GRCh38)
16:10845445 (GRCh37)
Canonical SPDI:: NC_000016.10:10751587:A:G
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10751588A>G, NC_000016.9:g.10845445A>G

Select item 149031968013.

rs1490319680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10751693 (GRCh38)
16:10845550 (GRCh37)
Canonical SPDI:: NC_000016.10:10751692:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.10751693C>T, NC_000016.9:g.10845550C>T

Select item 149020851214.

rs1490208512 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:10767432 (GRCh38)
16:10861289 (GRCh37)
Canonical SPDI:: NC_000016.10:10767424:TGTGTGTGT:TGTGTGT
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000495/8 (TOMMO)
-=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.10767426GT[3], NC_000016.9:g.10861283GT[3], NM_001079512.4:c.*1670CA[3], NM_001079512.3:c.*1670CA[3], NM_001079512.2:c.*1670CA[3], XM_017023651.3:c.*2047CA[3], XM_017023651.2:c.*2047CA[3], XM_017023651.1:c.*2047CA[3], NM_001318873.2:c.*1670CA[3], NM_001318873.1:c.*1670CA[3], XR_007064909.1:n.2990CA[3], XR_007064910.1:n.2990CA[3]

Select item 149008811415.

rs1490088114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10764369 (GRCh38)
16:10858226 (GRCh37)
Canonical SPDI:: NC_000016.10:10764368:A:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.10764369A>G, NC_000016.9:g.10858226A>G, XR_007064909.1:n.6053T>C, XM_047434604.1:c.*1785T>C

Select item 148992270616.

rs1489922706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:10764065 (GRCh38)
16:10857922 (GRCh37)
Canonical SPDI:: NC_000016.10:10764064:C:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10764065C>G, NC_000016.9:g.10857922C>G, XR_007064909.1:n.6357G>C, XM_047434604.1:c.*2089G>C

Select item 148990816617.

rs1489908166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:10764722 (GRCh38)
16:10858579 (GRCh37)
Canonical SPDI:: NC_000016.10:10764721:T:C
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.10764722T>C, NC_000016.9:g.10858579T>C, XR_007064909.1:n.5700A>G, XM_047434604.1:c.*1432A>G

Select item 148971506018.

rs1489715060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:10768648 (GRCh38)
16:10862505 (GRCh37)
Canonical SPDI:: NC_000016.10:10768647:C:G,NC_000016.10:10768647:C:T
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.10768648C>G, NC_000016.10:g.10768648C>T, NC_000016.9:g.10862505C>G, NC_000016.9:g.10862505C>T, NM_001079512.4:c.*454G>C, NM_001079512.4:c.*454G>A, NM_001079512.3:c.*454G>C, NM_001079512.3:c.*454G>A, NM_001079512.2:c.*454G>C, NM_001079512.2:c.*454G>A, XM_017023651.3:c.*831G>C, XM_017023651.3:c.*831G>A, XM_017023651.2:c.*831G>C, XM_017023651.2:c.*831G>A, XM_017023651.1:c.*831G>C, XM_017023651.1:c.*831G>A, NM_001318873.2:c.*454G>C, NM_001318873.2:c.*454G>A, NM_001318873.1:c.*454G>C, NM_001318873.1:c.*454G>A, XR_007064909.1:n.1774G>C, XR_007064909.1:n.1774G>A, XR_007064910.1:n.1774G>C, XR_007064910.1:n.1774G>A

Select item 148965283219.

rs1489652832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10758439 (GRCh38)
16:10852296 (GRCh37)
Canonical SPDI:: NC_000016.10:10758438:G:A
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.10758439G>A, NC_000016.9:g.10852296G>A

Select item 148939063220.

rs1489390632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10748399 (GRCh38)
16:10842256 (GRCh37)
Canonical SPDI:: NC_000016.10:10748398:A:G
Gene:: NUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.10748399A>G, NC_000016.9:g.10842256A>G

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity