SNP Links for Gene (Select 57559) - SNP

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Items: 1 to 20 of 9720

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Select item 14915662131.

rs1491566213 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:88921203 (GRCh38)
10:90680961 (GRCh37)
Canonical SPDI:: NC_000010.11:88921203:C:CC
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000324/6 (ALFA)
C=0.000117/31 (TOPMED)
C=0.000193/27 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000010.11:g.88921204dup, NC_000010.10:g.90680961dup

Select item 14909913332.

rs1490991333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88886311 (GRCh38)
10:90646068 (GRCh37)
Canonical SPDI:: NC_000010.11:88886310:C:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.88886311C>A, NC_000010.10:g.90646068C>A

Select item 14909861223.

rs1490986122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:88891911 (GRCh38)
10:90651668 (GRCh37)
Canonical SPDI:: NC_000010.11:88891910:C:G,NC_000010.11:88891910:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.88891911C>G, NC_000010.11:g.88891911C>T, NC_000010.10:g.90651668C>G, NC_000010.10:g.90651668C>T

Select item 14909734264.

rs1490973426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:88908521 (GRCh38)
10:90668278 (GRCh37)
Canonical SPDI:: NC_000010.11:88908520:C:A,NC_000010.11:88908520:C:T
Gene:: STAMBPL1 (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_000010.11:g.88908521C>A, NC_000010.11:g.88908521C>T, NC_000010.10:g.90668278C>A, NC_000010.10:g.90668278C>T, NM_017597.1:c.249C>A, NM_017597.1:c.249C>T

Select item 14907361645.

rs1490736164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:88915664 (GRCh38)
10:90675421 (GRCh37)
Canonical SPDI:: NC_000010.11:88915663:G:A,NC_000010.11:88915663:G:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.88915664G>A, NC_000010.11:g.88915664G>T, NC_000010.10:g.90675421G>A, NC_000010.10:g.90675421G>T

Select item 14906546176.

rs1490654617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88881918 (GRCh38)
10:90641675 (GRCh37)
Canonical SPDI:: NC_000010.11:88881917:G:A
Gene:: STAMBPL1 (Varview), LOC124902551 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88881918G>A, NC_000010.10:g.90641675G>A, XM_011539985.3:c.-433G>A, XM_011539985.2:c.-433G>A, XM_047425551.1:c.-911G>A

Select item 14904948147.

rs1490494814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:88891465 (GRCh38)
10:90651222 (GRCh37)
Canonical SPDI:: NC_000010.11:88891464:T:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000010.11:g.88891465T>G, NC_000010.10:g.90651222T>G

Select item 14904376828.

rs1490437682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88909386 (GRCh38)
10:90669143 (GRCh37)
Canonical SPDI:: NC_000010.11:88909385:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88909386C>T, NC_000010.10:g.90669143C>T, NM_017597.1:c.*796C>T

Select item 14903821519.

rs1490382151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:88890446 (GRCh38)
10:90650203 (GRCh37)
Canonical SPDI:: NC_000010.11:88890445:T:A,NC_000010.11:88890445:T:C
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88890446T>A, NC_000010.11:g.88890446T>C, NC_000010.10:g.90650203T>A, NC_000010.10:g.90650203T>C

Select item 149031179310.

rs1490311793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88882956 (GRCh38)
10:90642713 (GRCh37)
Canonical SPDI:: NC_000010.11:88882955:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.88882956C>T, NC_000010.10:g.90642713C>T

Select item 149030449511.

rs1490304495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:88883903 (GRCh38)
10:90643660 (GRCh37)
Canonical SPDI:: NC_000010.11:88883902:T:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88883903T>G, NC_000010.10:g.90643660T>G

Select item 149027834912.

rs1490278349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:88900134 (GRCh38)
10:90659891 (GRCh37)
Canonical SPDI:: NC_000010.11:88900133:A:C
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.88900134A>C, NC_000010.10:g.90659891A>C

Select item 149011447113.

rs1490114471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:88911388 (GRCh38)
10:90671145 (GRCh37)
Canonical SPDI:: NC_000010.11:88911387:G:A,NC_000010.11:88911387:G:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88911388G>A, NC_000010.11:g.88911388G>T, NC_000010.10:g.90671145G>A, NC_000010.10:g.90671145G>T

Select item 149000965614.

rs1490009656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88918314 (GRCh38)
10:90678071 (GRCh37)
Canonical SPDI:: NC_000010.11:88918313:C:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.00582/17 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.88918314C>T, NC_000010.10:g.90678071C>T

Select item 148994071615.

rs1489940716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:88908051 (GRCh38)
10:90667808 (GRCh37)
Canonical SPDI:: NC_000010.11:88908050:A:T
Gene:: STAMBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88908051A>T, NC_000010.10:g.90667808A>T

Select item 148982958916.

rs1489829589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88890330 (GRCh38)
10:90650087 (GRCh37)
Canonical SPDI:: NC_000010.11:88890329:G:A
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88890330G>A, NC_000010.10:g.90650087G>A

Select item 148956466517.

rs1489564665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88881044 (GRCh38)
10:90640801 (GRCh37)
Canonical SPDI:: NC_000010.11:88881043:C:T
Gene:: STAMBPL1 (Varview), LOC124902551 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.88881044C>T, NC_000010.10:g.90640801C>T, XM_011539985.3:c.-1307C>T, XM_011539985.2:c.-1307C>T, XM_047425551.1:c.-1785C>T

Select item 148955142518.

rs1489551425 has merged into rs970969734 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 10:88896922 (GRCh38)
10:90656679 (GRCh37)
Canonical SPDI:: NC_000010.11:88896921:AAAAAA:AAAAA,NC_000010.11:88896921:AAAAAA:AAAAAAA
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.88896927del, NC_000010.11:g.88896927dup, NC_000010.10:g.90656684del, NC_000010.10:g.90656684dup

Select item 148944925619.

rs1489449256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88897963 (GRCh38)
10:90657720 (GRCh37)
Canonical SPDI:: NC_000010.11:88897962:A:G
Gene:: STAMBPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88897963A>G, NC_000010.10:g.90657720A>G

Select item 148929137020.

rs1489291370 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGCGG [Show Flanks]
Chromosome:: 10:88880195 (GRCh38)
10:90639953 (GRCh37)
Canonical SPDI:: NC_000010.11:88880195:GAGGCGGAGGCGG:GAGGCGGAGGCGGAGGCGG
Gene:: STAMBPL1 (Varview), LOC124902551 (Varview)
Functional Consequence:: 2KB_upstream_variant,inframe_insertion,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGCGGAGGCGGAGGCGG=0./0 (ALFA)
GAGGCG=0.000004/1 (TOPMED)
GAGGCG=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88880197AGGCGG[3], NC_000010.10:g.90639954AGGCGG[3], NM_020799.3:c.-495AGGCGG[3], XM_047426134.1:c.216CGCCTC[3], XP_047282090.1:p.74SA[4]

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