SNP Links for Nucleotide (Select 1024846778) - SNP

Links from Nucleotide

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Select item 14915824991.

rs1491582499 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:70576093 (GRCh38)
16:70609996 (GRCh37)
Canonical SPDI:: NC_000016.10:70576092:TA:
Gene:: SF3B3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.70576093_70576094del, NC_000016.9:g.70609996_70609997del, NG_046937.1:g.57306_57307del, NM_012426.5:c.*4280_*4281del, NM_012426.4:c.*4280_*4281del

Select item 14915210902.

rs1491521090 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:70576303 (GRCh38)
16:70610206 (GRCh37)
Canonical SPDI:: NC_000016.10:70576302:TA:
Gene:: SF3B3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00336/15 (ALFA)
-=0.0017/28 (TOMMO)
-=0.03002/55 (Korea1K)
HGVS:: NC_000016.10:g.70576303_70576304del, NC_000016.9:g.70610206_70610207del, NG_046937.1:g.57516_57517del, NM_012426.5:c.*4490_*4491del, NM_012426.4:c.*4490_*4491del

Select item 14914698493.

rs1491469849 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:70559768 (GRCh38)
16:70593671 (GRCh37)
Canonical SPDI:: NC_000016.10:70559767:CT:
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.70559768_70559769del, NC_000016.9:g.70593671_70593672del, NG_046937.1:g.40981_40982del

Select item 14914658584.

rs1491465858 has merged into rs749527034 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 16:70529176 (GRCh38)
16:70563079 (GRCh37)
Canonical SPDI:: NC_000016.10:70529174:CCC:C,NC_000016.10:70529174:CCC:CC,NC_000016.10:70529174:CCC:CCCC
Gene:: SF3B3 (Varview), SNORD111B (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.70529176_70529177del, NC_000016.10:g.70529177del, NC_000016.10:g.70529177dup, NC_000016.9:g.70563079_70563080del, NC_000016.9:g.70563080del, NC_000016.9:g.70563080dup, NG_046937.1:g.10389_10390del, NG_046937.1:g.10390del, NG_046937.1:g.10390dup, NM_012426.5:c.374_375del, NM_012426.5:c.375del, NM_012426.5:c.375dup, NM_012426.4:c.374_375del, NM_012426.4:c.375del, NM_012426.4:c.375dup, NP_036558.3:p.Pro125fs, NP_036558.3:p.Arg128fs, NP_036558.3:p.Lys126fs

Select item 14914619335.

rs1491461933 has merged into rs61397425 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 16:70520379 (GRCh38)
16:70554282 (GRCh37)
Canonical SPDI:: NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000016.10:70520374:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG
Gene:: COG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.00006/16 (TOPMED)
HGVS:: NC_000016.10:g.70520379_70520389del, NC_000016.10:g.70520380_70520389del, NC_000016.10:g.70520381_70520389del, NC_000016.10:g.70520382_70520389del, NC_000016.10:g.70520383_70520389del, NC_000016.10:g.70520384_70520389del, NC_000016.10:g.70520385_70520389del, NC_000016.10:g.70520386_70520389del, NC_000016.10:g.70520387_70520389del, NC_000016.10:g.70520388_70520389del, NC_000016.10:g.70520389del, NC_000016.10:g.70520389dup, NC_000016.10:g.70520388_70520389dup, NC_000016.10:g.70520387_70520389dup, NC_000016.10:g.70520386_70520389dup, NC_000016.10:g.70520385_70520389dup, NC_000016.10:g.70520384_70520389dup, NC_000016.9:g.70554282_70554292del, NC_000016.9:g.70554283_70554292del, NC_000016.9:g.70554284_70554292del, NC_000016.9:g.70554285_70554292del, NC_000016.9:g.70554286_70554292del, NC_000016.9:g.70554287_70554292del, NC_000016.9:g.70554288_70554292del, NC_000016.9:g.70554289_70554292del, NC_000016.9:g.70554290_70554292del, NC_000016.9:g.70554291_70554292del, NC_000016.9:g.70554292del, NC_000016.9:g.70554292dup, NC_000016.9:g.70554291_70554292dup, NC_000016.9:g.70554290_70554292dup, NC_000016.9:g.70554289_70554292dup, NC_000016.9:g.70554288_70554292dup, NC_000016.9:g.70554287_70554292dup, NG_046937.1:g.1592_1602del, NG_046937.1:g.1593_1602del, NG_046937.1:g.1594_1602del, NG_046937.1:g.1595_1602del, NG_046937.1:g.1596_1602del, NG_046937.1:g.1597_1602del, NG_046937.1:g.1598_1602del, NG_046937.1:g.1599_1602del, NG_046937.1:g.1600_1602del, NG_046937.1:g.1601_1602del, NG_046937.1:g.1602del, NG_046937.1:g.1602dup, NG_046937.1:g.1601_1602dup, NG_046937.1:g.1600_1602dup, NG_046937.1:g.1599_1602dup, NG_046937.1:g.1598_1602dup, NG_046937.1:g.1597_1602dup, NG_027529.1:g.8170_8180del, NG_027529.1:g.8171_8180del, NG_027529.1:g.8172_8180del, NG_027529.1:g.8173_8180del, NG_027529.1:g.8174_8180del, NG_027529.1:g.8175_8180del, NG_027529.1:g.8176_8180del, NG_027529.1:g.8177_8180del, NG_027529.1:g.8178_8180del, NG_027529.1:g.8179_8180del, NG_027529.1:g.8180del, NG_027529.1:g.8180dup, NG_027529.1:g.8179_8180dup, NG_027529.1:g.8178_8180dup, NG_027529.1:g.8177_8180dup, NG_027529.1:g.8176_8180dup, NG_027529.1:g.8175_8180dup

Select item 14913983176.

rs1491398317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCC,ACCCCACCCC [Show Flanks]
Chromosome:: 16:70576303 (GRCh38)
16:70610207 (GRCh37)
Canonical SPDI:: NC_000016.10:70576303:ACCCCACCCCACCCC:ACCCCACCCCACCCCACCCC,NC_000016.10:70576303:ACCCCACCCCACCCC:ACCCCACCCCACCCCACCCCACCCC
Gene:: SF3B3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACCCCACCCCACCCCACCCCACCCC=0./0 (ALFA)
HGVS:: NC_000016.10:g.70576304ACCCC[4], NC_000016.10:g.70576304ACCCC[5], NC_000016.9:g.70610207ACCCC[4], NC_000016.9:g.70610207ACCCC[5], NG_046937.1:g.57517ACCCC[4], NG_046937.1:g.57517ACCCC[5], NM_012426.5:c.*4491ACCCC[4], NM_012426.5:c.*4491ACCCC[5], NM_012426.4:c.*4491ACCCC[4], NM_012426.4:c.*4491ACCCC[5]

Select item 14913410187.

rs1491341018 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:70530171 (GRCh38)
16:70564074 (GRCh37)
Canonical SPDI:: NC_000016.10:70530169:ATA:A
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.70530171_70530172del, NC_000016.9:g.70564074_70564075del, NG_046937.1:g.11384_11385del

Select item 14912907288.

rs1491290728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAG [Show Flanks]
Chromosome:: 16:70530170 (GRCh38)
16:70564074 (GRCh37)
Canonical SPDI:: NC_000016.10:70530170:TAAG:TAAGTAAG
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAAGTAAG=0./0 (ALFA)
HGVS:: NC_000016.10:g.70530171_70530174dup, NC_000016.9:g.70564074_70564077dup, NG_046937.1:g.11384_11387dup

Select item 14912668579.

rs1491266857 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:70528464 (GRCh38)
16:70562367 (GRCh37)
Canonical SPDI:: NC_000016.10:70528463:CT:
Gene:: SF3B3 (Varview), SNORD111B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000016.10:g.70528464_70528465del, NC_000016.9:g.70562367_70562368del, NG_046937.1:g.9677_9678del, NG_027529.1:g.90_91del

Select item 149126128910.

rs1491261289 has merged into rs33955800 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:70555487 (GRCh38)
16:70589390 (GRCh37)
Canonical SPDI:: NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70555477:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.70555487_70555500del, NC_000016.10:g.70555488_70555500del, NC_000016.10:g.70555489_70555500del, NC_000016.10:g.70555490_70555500del, NC_000016.10:g.70555491_70555500del, NC_000016.10:g.70555493_70555500del, NC_000016.10:g.70555495_70555500del, NC_000016.10:g.70555496_70555500del, NC_000016.10:g.70555497_70555500del, NC_000016.10:g.70555498_70555500del, NC_000016.10:g.70555499_70555500del, NC_000016.10:g.70555500del, NC_000016.10:g.70555500dup, NC_000016.10:g.70555499_70555500dup, NC_000016.10:g.70555498_70555500dup, NC_000016.10:g.70555497_70555500dup, NC_000016.10:g.70555496_70555500dup, NC_000016.10:g.70555495_70555500dup, NC_000016.10:g.70555494_70555500dup, NC_000016.10:g.70555493_70555500dup, NC_000016.10:g.70555490_70555500dup, NC_000016.10:g.70555500_70555501insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.70589390_70589403del, NC_000016.9:g.70589391_70589403del, NC_000016.9:g.70589392_70589403del, NC_000016.9:g.70589393_70589403del, NC_000016.9:g.70589394_70589403del, NC_000016.9:g.70589396_70589403del, NC_000016.9:g.70589398_70589403del, NC_000016.9:g.70589399_70589403del, NC_000016.9:g.70589400_70589403del, NC_000016.9:g.70589401_70589403del, NC_000016.9:g.70589402_70589403del, NC_000016.9:g.70589403del, NC_000016.9:g.70589403dup, NC_000016.9:g.70589402_70589403dup, NC_000016.9:g.70589401_70589403dup, NC_000016.9:g.70589400_70589403dup, NC_000016.9:g.70589399_70589403dup, NC_000016.9:g.70589398_70589403dup, NC_000016.9:g.70589397_70589403dup, NC_000016.9:g.70589396_70589403dup, NC_000016.9:g.70589393_70589403dup, NC_000016.9:g.70589403_70589404insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046937.1:g.36700_36713del, NG_046937.1:g.36701_36713del, NG_046937.1:g.36702_36713del, NG_046937.1:g.36703_36713del, NG_046937.1:g.36704_36713del, NG_046937.1:g.36706_36713del, NG_046937.1:g.36708_36713del, NG_046937.1:g.36709_36713del, NG_046937.1:g.36710_36713del, NG_046937.1:g.36711_36713del, NG_046937.1:g.36712_36713del, NG_046937.1:g.36713del, NG_046937.1:g.36713dup, NG_046937.1:g.36712_36713dup, NG_046937.1:g.36711_36713dup, NG_046937.1:g.36710_36713dup, NG_046937.1:g.36709_36713dup, NG_046937.1:g.36708_36713dup, NG_046937.1:g.36707_36713dup, NG_046937.1:g.36706_36713dup, NG_046937.1:g.36703_36713dup, NG_046937.1:g.36713_36714insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149125256211.

rs1491252562 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:70528464 (GRCh38)
16:70562368 (GRCh37)
Canonical SPDI:: NC_000016.10:70528464::A
Gene:: SF3B3 (Varview), SNORD111B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/4 (GnomAD)
HGVS:: NC_000016.10:g.70528464_70528465insA, NC_000016.9:g.70562367_70562368insA, NG_046937.1:g.9677_9678insA, NG_027529.1:g.90_91insT

Select item 149116958812.

rs1491169588 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:70555477 (GRCh38)
16:70589380 (GRCh37)
Canonical SPDI:: NC_000016.10:70555476:CA:
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00228/27 (ALFA)
-=0.00043/12 (TOMMO)
HGVS:: NC_000016.10:g.70555477_70555478del, NC_000016.9:g.70589380_70589381del, NG_046937.1:g.36690_36691del

Select item 149112040713.

rs1491120407 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 16:70529174 (GRCh38)
16:70563077 (GRCh37)
Canonical SPDI:: NC_000016.10:70529173:TC:
Gene:: SF3B3 (Varview), SNORD111B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000016.10:g.70529174_70529175del, NC_000016.9:g.70563077_70563078del, NG_046937.1:g.10387_10388del, NM_012426.5:c.372_373del, NM_012426.4:c.372_373del, NP_036558.3:p.Pro125fs

Select item 149111962814.

rs1491119628 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG,TG [Show Flanks]
Chromosome:: 16:70520375 (GRCh38)
16:70554279 (GRCh37)
Canonical SPDI:: NC_000016.10:70520375:G:GAG,NC_000016.10:70520375:G:GCG,NC_000016.10:70520375:G:GTG
Gene:: COG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GC=0.00007/1 (GnomAD)
HGVS:: NC_000016.10:g.70520376_70520377insAG, NC_000016.10:g.70520376_70520377insCG, NC_000016.10:g.70520376_70520377insTG, NC_000016.9:g.70554279_70554280insAG, NC_000016.9:g.70554279_70554280insCG, NC_000016.9:g.70554279_70554280insTG, NG_046937.1:g.1589_1590insAG, NG_046937.1:g.1589_1590insCG, NG_046937.1:g.1589_1590insTG, NG_027529.1:g.8179_8180insTC, NG_027529.1:g.8179_8180insGC, NG_027529.1:g.8179_8180insAC

Select item 149111552615.

rs1491115526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:70558506 (GRCh38)
16:70592410 (GRCh37)
Canonical SPDI:: NC_000016.10:70558506:C:CC
Gene:: SF3B3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000016.10:g.70558507dup, NC_000016.9:g.70592410dup, NG_046937.1:g.39720dup

Select item 149102620816.

rs1491026208 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:70520388 (GRCh38)
16:70554292 (GRCh37)
Canonical SPDI:: NC_000016.10:70520388::C
Gene:: COG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00023/11 (GnomAD)
HGVS:: NC_000016.10:g.70520388_70520389insC, NC_000016.9:g.70554291_70554292insC, NG_046937.1:g.1601_1602insC, NG_027529.1:g.8166_8167insG

Select item 149095967617.

rs1490959676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:70524163 (GRCh38)
16:70558066 (GRCh37)
Canonical SPDI:: NC_000016.10:70524162:C:T
Gene:: SF3B3 (Varview), COG4 (Varview)
Functional Consequence:: 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=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.70524163C>T, NC_000016.9:g.70558066C>T, NG_046937.1:g.5376C>T, NG_027529.1:g.4392G>A

Select item 149093379418.

rs1490933794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:70522436 (GRCh38)
16:70556339 (GRCh37)
Canonical SPDI:: NC_000016.10:70522435:G:C,NC_000016.10:70522435:G:T
Gene:: SF3B3 (Varview), COG4 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.70522436G>C, NC_000016.10:g.70522436G>T, NC_000016.9:g.70556339G>C, NC_000016.9:g.70556339G>T, NG_046937.1:g.3649G>C, NG_046937.1:g.3649G>T, NG_027529.1:g.6119C>G, NG_027529.1:g.6119C>A

Select item 149090134819.

rs1490901348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:70563885 (GRCh38)
16:70597788 (GRCh37)
Canonical SPDI:: NC_000016.10:70563884:A:G
Gene:: SF3B3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.70563885A>G, NC_000016.9:g.70597788A>G, NG_046937.1:g.45098A>G, NM_012426.5:c.2298A>G, NM_012426.4:c.2298A>G

Select item 149088253520.

rs1490882535 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:70536763 (GRCh38)
16:70570666 (GRCh37)
Canonical SPDI:: NC_000016.10:70536762:GT:
Gene:: SF3B3 (Varview), SNORD111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.70536763_70536764del, NC_000016.9:g.70570666_70570667del, NG_046937.1:g.17976_17977del

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