SNP Links for Nucleotide (Select 401709989) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14910688591.

rs1491068859 has merged into rs71198545 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:30357683 (GRCh38)
22:30753672 (GRCh37)
Canonical SPDI:: NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:30357668:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SF3A1 (Varview), CCDC157 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3235/1620 (1000Genomes)
HGVS:: NC_000022.11:g.30357683_30357687del, NC_000022.11:g.30357684_30357687del, NC_000022.11:g.30357685_30357687del, NC_000022.11:g.30357686_30357687del, NC_000022.11:g.30357687del, NC_000022.11:g.30357687dup, NC_000022.11:g.30357686_30357687dup, NC_000022.11:g.30357685_30357687dup, NC_000022.11:g.30357684_30357687dup, NC_000022.11:g.30357676_30357687dup, NC_000022.10:g.30753672_30753676del, NC_000022.10:g.30753673_30753676del, NC_000022.10:g.30753674_30753676del, NC_000022.10:g.30753675_30753676del, NC_000022.10:g.30753676del, NC_000022.10:g.30753676dup, NC_000022.10:g.30753675_30753676dup, NC_000022.10:g.30753674_30753676dup, NC_000022.10:g.30753673_30753676dup, NC_000022.10:g.30753665_30753676dup, NG_032902.1:g.4252_4256del, NG_032902.1:g.4253_4256del, NG_032902.1:g.4254_4256del, NG_032902.1:g.4255_4256del, NG_032902.1:g.4256del, NG_032902.1:g.4256dup, NG_032902.1:g.4255_4256dup, NG_032902.1:g.4254_4256dup, NG_032902.1:g.4253_4256dup, NG_032902.1:g.4245_4256dup

Select item 14909575622.

rs1490957562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30330248 (GRCh38)
22:30726237 (GRCh37)
Canonical SPDI:: NC_000022.11:30330247:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.30330248C>T, NC_000022.10:g.30726237C>T, NG_032902.1:g.31677G>A

Select item 14909464223.

rs1490946422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30347553 (GRCh38)
22:30743542 (GRCh37)
Canonical SPDI:: NC_000022.11:30347552:C:T
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_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_000022.11:g.30347553C>T, NC_000022.10:g.30743542C>T, NG_032902.1:g.14372G>A

Select item 14907549314.

rs1490754931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30339386 (GRCh38)
22:30735375 (GRCh37)
Canonical SPDI:: NC_000022.11:30339385:T:C
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_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_000022.11:g.30339386T>C, NC_000022.10:g.30735375T>C, NG_032902.1:g.22539A>G

Select item 14906907235.

rs1490690723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30353940 (GRCh38)
22:30749929 (GRCh37)
Canonical SPDI:: NC_000022.11:30353939:G:A
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30353940G>A, NC_000022.10:g.30749929G>A, NG_032902.1:g.7985C>T

Select item 14905654486.

rs1490565448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30337845 (GRCh38)
22:30733834 (GRCh37)
Canonical SPDI:: NC_000022.11:30337844:C:T
Gene:: SF3A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.30337845C>T, NC_000022.10:g.30733834C>T, NG_032902.1:g.24080G>A, NM_005877.6:c.1796G>A, NM_005877.5:c.1796G>A, NM_005877.4:c.1796G>A, NM_001005409.1:c.1601G>A, NP_005868.1:p.Arg599Gln

Select item 14905273217.

rs1490527321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:30353547 (GRCh38)
22:30749536 (GRCh37)
Canonical SPDI:: NC_000022.11:30353546:G:T
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30353547G>T, NC_000022.10:g.30749536G>T, NG_032902.1:g.8378C>A

Select item 14903078068.

rs1490307806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30330366 (GRCh38)
22:30726355 (GRCh37)
Canonical SPDI:: NC_000022.11:30330365:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.30330366G>A, NC_000022.10:g.30726355G>A, NG_032902.1:g.31559C>T

Select item 14902735749.

rs1490273574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:30345984 (GRCh38)
22:30741973 (GRCh37)
Canonical SPDI:: NC_000022.11:30345983:T:A
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30345984T>A, NC_000022.10:g.30741973T>A, NG_032902.1:g.15941A>T

Select item 149024721710.

rs1490247217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30343776 (GRCh38)
22:30739765 (GRCh37)
Canonical SPDI:: NC_000022.11:30343775:G:A
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30343776G>A, NC_000022.10:g.30739765G>A, NG_032902.1:g.18149C>T

Select item 149012987511.

rs1490129875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:30346221 (GRCh38)
22:30742210 (GRCh37)
Canonical SPDI:: NC_000022.11:30346220:T:C,NC_000022.11:30346220:T:G
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
C=0.000035/1 (TOMMO)
G=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.30346221T>C, NC_000022.11:g.30346221T>G, NC_000022.10:g.30742210T>C, NC_000022.10:g.30742210T>G, NG_032902.1:g.15704A>G, NG_032902.1:g.15704A>C

Select item 148991495612.

rs1489914956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30359951 (GRCh38)
22:30755940 (GRCh37)
Canonical SPDI:: NC_000022.11:30359950:C:T
Gene:: CCDC157 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30359951C>T, NC_000022.10:g.30755940C>T, NG_032902.1:g.1974G>A

Select item 148984365213.

rs1489843652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30353958 (GRCh38)
22:30749947 (GRCh37)
Canonical SPDI:: NC_000022.11:30353957:T:C
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30353958T>C, NC_000022.10:g.30749947T>C, NG_032902.1:g.7967A>G

Select item 148982814414.

rs1489828144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30354088 (GRCh38)
22:30750077 (GRCh37)
Canonical SPDI:: NC_000022.11:30354087:G:A
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30354088G>A, NC_000022.10:g.30750077G>A, NG_032902.1:g.7837C>T

Select item 148981143415.

rs1489811434 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 22:30339929 (GRCh38)
22:30735918 (GRCh37)
Canonical SPDI:: NC_000022.11:30339926:CTTCT:CT
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000071/2 (TOMMO)
HGVS:: NC_000022.11:g.30339929_30339931del, NC_000022.10:g.30735918_30735920del, NG_032902.1:g.21996_21998del

Select item 148975362816.

rs1489753628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30338319 (GRCh38)
22:30734308 (GRCh37)
Canonical SPDI:: NC_000022.11:30338318:A:G
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000068/18 (TOPMED)
HGVS:: NC_000022.11:g.30338319A>G, NC_000022.10:g.30734308A>G, NG_032902.1:g.23606T>C

Select item 148966376917.

rs1489663769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30361109 (GRCh38)
22:30757098 (GRCh37)
Canonical SPDI:: NC_000022.11:30361108:G:A
Gene:: CCDC157 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.30361109G>A, NC_000022.10:g.30757098G>A, NG_032902.1:g.816C>T

Select item 148963468618.

rs1489634686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:30339031 (GRCh38)
22:30735020 (GRCh37)
Canonical SPDI:: NC_000022.11:30339030:T:C
Gene:: SF3A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30339031T>C, NC_000022.10:g.30735020T>C, NG_032902.1:g.22894A>G, NM_005877.6:c.1501A>G, NM_005877.5:c.1501A>G, NM_005877.4:c.1501A>G, NM_001005409.1:c.1306A>G, NP_005868.1:p.Thr501Ala

Select item 148962826819.

rs1489628268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30352928 (GRCh38)
22:30748917 (GRCh37)
Canonical SPDI:: NC_000022.11:30352927:A:G
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.30352928A>G, NC_000022.10:g.30748917A>G, NG_032902.1:g.8997T>C

Select item 148948768720.

rs1489487687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30348788 (GRCh38)
22:30744777 (GRCh37)
Canonical SPDI:: NC_000022.11:30348787:C:T
Gene:: SF3A1 (Varview)
Functional Consequence:: intron_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_000022.11:g.30348788C>T, NC_000022.10:g.30744777C>T, NG_032902.1:g.13137G>A

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity