SNP Links for Gene (Select 55505) - SNP

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Select item 14912262081.

rs1491226208 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:34344502 (GRCh38)
15:34636703 (GRCh37)
Canonical SPDI:: NC_000015.10:34344501:CA:
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00995/118 (ALFA)
-=0.00245/69 (TOMMO)
HGVS:: NC_000015.10:g.34344502_34344503del, NC_000015.9:g.34636703_34636704del, NG_011562.1:g.3659_3660del, NW_025791798.1:g.83243_83244del

Select item 14885552082.

rs1488555208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:34343110 (GRCh38)
15:34635311 (GRCh37)
Canonical SPDI:: NC_000015.10:34343109:C:A,NC_000015.10:34343109:C:G
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34343110C>A, NC_000015.10:g.34343110C>G, NC_000015.9:g.34635311C>A, NC_000015.9:g.34635311C>G, NG_011562.1:g.5052G>T, NG_011562.1:g.5052G>C, NM_018648.4:c.-37G>T, NM_018648.4:c.-37G>C, NM_018648.3:c.-37G>T, NM_018648.3:c.-37G>C, NW_025791798.1:g.81851C>A, NW_025791798.1:g.81851C>G

Select item 14885470363.

rs1488547036 has merged into rs750902937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:34342574 (GRCh38)
15:34634775 (GRCh37)
Canonical SPDI:: NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000015.10:g.34342574_34342587del, NC_000015.10:g.34342575_34342587del, NC_000015.10:g.34342576_34342587del, NC_000015.10:g.34342577_34342587del, NC_000015.10:g.34342578_34342587del, NC_000015.10:g.34342579_34342587del, NC_000015.10:g.34342580_34342587del, NC_000015.10:g.34342581_34342587del, NC_000015.10:g.34342582_34342587del, NC_000015.10:g.34342583_34342587del, NC_000015.10:g.34342584_34342587del, NC_000015.10:g.34342585_34342587del, NC_000015.10:g.34342586_34342587del, NC_000015.10:g.34342587del, NC_000015.10:g.34342587dup, NC_000015.10:g.34342586_34342587dup, NC_000015.10:g.34342585_34342587dup, NC_000015.10:g.34342584_34342587dup, NC_000015.9:g.34634775_34634788del, NC_000015.9:g.34634776_34634788del, NC_000015.9:g.34634777_34634788del, NC_000015.9:g.34634778_34634788del, NC_000015.9:g.34634779_34634788del, NC_000015.9:g.34634780_34634788del, NC_000015.9:g.34634781_34634788del, NC_000015.9:g.34634782_34634788del, NC_000015.9:g.34634783_34634788del, NC_000015.9:g.34634784_34634788del, NC_000015.9:g.34634785_34634788del, NC_000015.9:g.34634786_34634788del, NC_000015.9:g.34634787_34634788del, NC_000015.9:g.34634788del, NC_000015.9:g.34634788dup, NC_000015.9:g.34634787_34634788dup, NC_000015.9:g.34634786_34634788dup, NC_000015.9:g.34634785_34634788dup, NG_007951.1:g.487_500del, NG_007951.1:g.488_500del, NG_007951.1:g.489_500del, NG_007951.1:g.490_500del, NG_007951.1:g.491_500del, NG_007951.1:g.492_500del, NG_007951.1:g.493_500del, NG_007951.1:g.494_500del, NG_007951.1:g.495_500del, NG_007951.1:g.496_500del, NG_007951.1:g.497_500del, NG_007951.1:g.498_500del, NG_007951.1:g.499_500del, NG_007951.1:g.500del, NG_007951.1:g.500dup, NG_007951.1:g.499_500dup, NG_007951.1:g.498_500dup, NG_007951.1:g.497_500dup, NG_011562.1:g.5584_5597del, NG_011562.1:g.5585_5597del, NG_011562.1:g.5586_5597del, NG_011562.1:g.5587_5597del, NG_011562.1:g.5588_5597del, NG_011562.1:g.5589_5597del, NG_011562.1:g.5590_5597del, NG_011562.1:g.5591_5597del, NG_011562.1:g.5592_5597del, NG_011562.1:g.5593_5597del, NG_011562.1:g.5594_5597del, NG_011562.1:g.5595_5597del, NG_011562.1:g.5596_5597del, NG_011562.1:g.5597del, NG_011562.1:g.5597dup, NG_011562.1:g.5596_5597dup, NG_011562.1:g.5595_5597dup, NG_011562.1:g.5594_5597dup, NW_025791798.1:g.81315_81328del, NW_025791798.1:g.81316_81328del, NW_025791798.1:g.81317_81328del, NW_025791798.1:g.81318_81328del, NW_025791798.1:g.81319_81328del, NW_025791798.1:g.81320_81328del, NW_025791798.1:g.81321_81328del, NW_025791798.1:g.81322_81328del, NW_025791798.1:g.81323_81328del, NW_025791798.1:g.81324_81328del, NW_025791798.1:g.81325_81328del, NW_025791798.1:g.81326_81328del, NW_025791798.1:g.81327_81328del, NW_025791798.1:g.81328del, NW_025791798.1:g.81328dup, NW_025791798.1:g.81327_81328dup, NW_025791798.1:g.81326_81328dup, NW_025791798.1:g.81325_81328dup

Select item 14884568364.

rs1488456836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34343709 (GRCh38)
15:34635910 (GRCh37)
Canonical SPDI:: NC_000015.10:34343708:A:G
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.34343709A>G, NC_000015.9:g.34635910A>G, NG_011562.1:g.4453T>C, NW_025791798.1:g.82450A>G

Select item 14875735395.

rs1487573539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:34342277 (GRCh38)
15:34634478 (GRCh37)
Canonical SPDI:: NC_000015.10:34342276:C:G,NC_000015.10:34342276:C:T
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.34342277C>G, NC_000015.10:g.34342277C>T, NC_000015.9:g.34634478C>G, NC_000015.9:g.34634478C>T, NG_007951.1:g.788G>C, NG_007951.1:g.788G>A, NG_011562.1:g.5885G>C, NG_011562.1:g.5885G>A, NW_025791798.1:g.81018C>G, NW_025791798.1:g.81018C>T

Select item 14875219176.

rs1487521917 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAGAAAAAA [Show Flanks]
Chromosome:: 15:34341260 (GRCh38)
15:34633462 (GRCh37)
Canonical SPDI:: NC_000015.10:34341260:AAAAAA:AAAAAAAAAAAAAGAAAAAA
Gene:: NOP10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAAAAAGAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.34341261_34341266A[13]GAAAAAA[1], NC_000015.9:g.34633462_34633467A[13]GAAAAAA[1], NG_007951.1:g.1799_1804T[6]CTTTTTTTTTTTTT[1], NG_011562.1:g.6896_6901T[6]CTTTTTTTTTTTTT[1], NW_025791798.1:g.80002_80007A[13]GAAAAAA[1]

Select item 14870570727.

rs1487057072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34342174 (GRCh38)
15:34634375 (GRCh37)
Canonical SPDI:: NC_000015.10:34342173:A:G
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34342174A>G, NC_000015.9:g.34634375A>G, NG_007951.1:g.891T>C, NG_011562.1:g.5988T>C, NW_025791798.1:g.80915A>G

Select item 14866782038.

rs1486678203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:34341251 (GRCh38)
15:34633452 (GRCh37)
Canonical SPDI:: NC_000015.10:34341250:T:C,NC_000015.10:34341250:T:G
Gene:: NOP10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000071/2 (TOMMO)
HGVS:: NC_000015.10:g.34341251T>C, NC_000015.10:g.34341251T>G, NC_000015.9:g.34633452T>C, NC_000015.9:g.34633452T>G, NG_007951.1:g.1814A>G, NG_007951.1:g.1814A>C, NG_011562.1:g.6911A>G, NG_011562.1:g.6911A>C, NW_025791798.1:g.79992T>C, NW_025791798.1:g.79992T>G

Select item 14851841369.

rs1485184136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34341919 (GRCh38)
15:34634120 (GRCh37)
Canonical SPDI:: NC_000015.10:34341918:G:A
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34341919G>A, NC_000015.9:g.34634120G>A, NG_007951.1:g.1146C>T, NG_011562.1:g.6243C>T, NM_018648.4:c.*49C>T, NM_018648.3:c.*49C>T, NW_025791798.1:g.80660G>A

Select item 148497630410.

rs1484976304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:34343930 (GRCh38)
15:34636131 (GRCh37)
Canonical SPDI:: NC_000015.10:34343929:A:G,NC_000015.10:34343929:A:T
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.34343930A>G, NC_000015.10:g.34343930A>T, NC_000015.9:g.34636131A>G, NC_000015.9:g.34636131A>T, NG_011562.1:g.4232T>C, NG_011562.1:g.4232T>A, NW_025791798.1:g.82671A>G, NW_025791798.1:g.82671A>T

Select item 148493375111.

rs1484933751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34343012 (GRCh38)
15:34635213 (GRCh37)
Canonical SPDI:: NC_000015.10:34343011:C:G
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000015.10:g.34343012C>G, NC_000015.9:g.34635213C>G, NG_007951.1:g.53G>C, NG_011562.1:g.5150G>C, NW_025791798.1:g.81753C>G

Select item 148467160712.

rs1484671607 has merged into rs750902937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:34342574 (GRCh38)
15:34634775 (GRCh37)
Canonical SPDI:: NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34342564:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000015.10:g.34342574_34342587del, NC_000015.10:g.34342575_34342587del, NC_000015.10:g.34342576_34342587del, NC_000015.10:g.34342577_34342587del, NC_000015.10:g.34342578_34342587del, NC_000015.10:g.34342579_34342587del, NC_000015.10:g.34342580_34342587del, NC_000015.10:g.34342581_34342587del, NC_000015.10:g.34342582_34342587del, NC_000015.10:g.34342583_34342587del, NC_000015.10:g.34342584_34342587del, NC_000015.10:g.34342585_34342587del, NC_000015.10:g.34342586_34342587del, NC_000015.10:g.34342587del, NC_000015.10:g.34342587dup, NC_000015.10:g.34342586_34342587dup, NC_000015.10:g.34342585_34342587dup, NC_000015.10:g.34342584_34342587dup, NC_000015.9:g.34634775_34634788del, NC_000015.9:g.34634776_34634788del, NC_000015.9:g.34634777_34634788del, NC_000015.9:g.34634778_34634788del, NC_000015.9:g.34634779_34634788del, NC_000015.9:g.34634780_34634788del, NC_000015.9:g.34634781_34634788del, NC_000015.9:g.34634782_34634788del, NC_000015.9:g.34634783_34634788del, NC_000015.9:g.34634784_34634788del, NC_000015.9:g.34634785_34634788del, NC_000015.9:g.34634786_34634788del, NC_000015.9:g.34634787_34634788del, NC_000015.9:g.34634788del, NC_000015.9:g.34634788dup, NC_000015.9:g.34634787_34634788dup, NC_000015.9:g.34634786_34634788dup, NC_000015.9:g.34634785_34634788dup, NG_007951.1:g.487_500del, NG_007951.1:g.488_500del, NG_007951.1:g.489_500del, NG_007951.1:g.490_500del, NG_007951.1:g.491_500del, NG_007951.1:g.492_500del, NG_007951.1:g.493_500del, NG_007951.1:g.494_500del, NG_007951.1:g.495_500del, NG_007951.1:g.496_500del, NG_007951.1:g.497_500del, NG_007951.1:g.498_500del, NG_007951.1:g.499_500del, NG_007951.1:g.500del, NG_007951.1:g.500dup, NG_007951.1:g.499_500dup, NG_007951.1:g.498_500dup, NG_007951.1:g.497_500dup, NG_011562.1:g.5584_5597del, NG_011562.1:g.5585_5597del, NG_011562.1:g.5586_5597del, NG_011562.1:g.5587_5597del, NG_011562.1:g.5588_5597del, NG_011562.1:g.5589_5597del, NG_011562.1:g.5590_5597del, NG_011562.1:g.5591_5597del, NG_011562.1:g.5592_5597del, NG_011562.1:g.5593_5597del, NG_011562.1:g.5594_5597del, NG_011562.1:g.5595_5597del, NG_011562.1:g.5596_5597del, NG_011562.1:g.5597del, NG_011562.1:g.5597dup, NG_011562.1:g.5596_5597dup, NG_011562.1:g.5595_5597dup, NG_011562.1:g.5594_5597dup, NW_025791798.1:g.81315_81328del, NW_025791798.1:g.81316_81328del, NW_025791798.1:g.81317_81328del, NW_025791798.1:g.81318_81328del, NW_025791798.1:g.81319_81328del, NW_025791798.1:g.81320_81328del, NW_025791798.1:g.81321_81328del, NW_025791798.1:g.81322_81328del, NW_025791798.1:g.81323_81328del, NW_025791798.1:g.81324_81328del, NW_025791798.1:g.81325_81328del, NW_025791798.1:g.81326_81328del, NW_025791798.1:g.81327_81328del, NW_025791798.1:g.81328del, NW_025791798.1:g.81328dup, NW_025791798.1:g.81327_81328dup, NW_025791798.1:g.81326_81328dup, NW_025791798.1:g.81325_81328dup

Select item 148378001813.

rs1483780018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34342890 (GRCh38)
15:34635091 (GRCh37)
Canonical SPDI:: NC_000015.10:34342889:T:C
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 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_000015.10:g.34342890T>C, NC_000015.9:g.34635091T>C, NG_007951.1:g.175A>G, NG_011562.1:g.5272A>G, NW_025791798.1:g.81631T>C

Select item 148363923114.

rs1483639231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34344166 (GRCh38)
15:34636367 (GRCh37)
Canonical SPDI:: NC_000015.10:34344165:G:A
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.34344166G>A, NC_000015.9:g.34636367G>A, NG_011562.1:g.3996C>T, NW_025791798.1:g.82907G>A

Select item 148339993415.

rs1483399934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34342095 (GRCh38)
15:34634296 (GRCh37)
Canonical SPDI:: NC_000015.10:34342094:A:G
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_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_000015.10:g.34342095A>G, NC_000015.9:g.34634296A>G, NG_007951.1:g.970T>C, NG_011562.1:g.6067T>C, NM_018648.4:c.68T>C, NM_018648.3:c.68T>C, NW_025791798.1:g.80836A>G, NP_061118.1:p.Met23Thr

Select item 148206526816.

rs1482065268 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TT
Chromosome:: no mapping
Canonical SPDI:

Select item 148159670917.

rs1481596709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:34344828 (GRCh38)
15:34637029 (GRCh37)
Canonical SPDI:: NC_000015.10:34344827:C:A
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.34344828C>A, NC_000015.9:g.34637029C>A, NG_011562.1:g.3334G>T, NW_025791798.1:g.83569C>A

Select item 147927693318.

rs1479276933 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 15:34344501 (GRCh38)
15:34636703 (GRCh37)
Canonical SPDI:: NC_000015.10:34344501::A,NC_000015.10:34344501::AA
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000015.10:g.34344501_34344502insA, NC_000015.10:g.34344501_34344502insAA, NC_000015.9:g.34636702_34636703insA, NC_000015.9:g.34636702_34636703insAA, NG_011562.1:g.3660_3661insT, NG_011562.1:g.3660_3661insTT, NW_025791798.1:g.83242_83243insA, NW_025791798.1:g.83242_83243insAA

Select item 147922612919.

rs1479226129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:34342505 (GRCh38)
15:34634707 (GRCh37)
Canonical SPDI:: NC_000015.10:34342505:G:GG
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.34342506dup, NC_000015.9:g.34634707dup, NG_007951.1:g.559dup, NG_011562.1:g.5656dup, NW_025791798.1:g.81247dup

Select item 147901369920.

rs1479013699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34343074 (GRCh38)
15:34635275 (GRCh37)
Canonical SPDI:: NC_000015.10:34343073:G:A
Gene:: NOP10 (Varview), NUTM1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.34343074G>A, NC_000015.9:g.34635275G>A, NG_011562.1:g.5088C>T, NM_018648.4:c.-1C>T, NM_018648.3:c.-1C>T, NW_025791798.1:g.81815G>A

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