SNP Links for Gene (Select 10077) - SNP

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Select item 14911825861.

rs1491182586 has merged into rs1554938995 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 11:2306555 (GRCh38)
11:2327785 (GRCh37)
Canonical SPDI:: NC_000011.10:2306553:AAA:A,NC_000011.10:2306553:AAA:AA
Gene:: TSPAN32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00025/4 (TOMMO)
-=0.31681/1221 (ALSPAC)
-=0.33387/1238 (TWINSUK)
HGVS:: NC_000011.10:g.2306555_2306556del, NC_000011.10:g.2306556del, NC_000011.9:g.2327785_2327786del, NC_000011.9:g.2327786del

Select item 14909322352.

rs1490932235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2297884 (GRCh38)
11:2319114 (GRCh37)
Canonical SPDI:: NC_000011.10:2297883:A:G
Gene:: C11orf21 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000011.10:g.2297884A>G, NC_000011.9:g.2319114A>G, NM_001142946.3:c.*66T>C, NM_001142946.2:c.*66T>C, NM_001142946.1:c.*66T>C, NR_138249.2:n.577T>C, NR_138249.1:n.486T>C, NM_001329958.2:c.*66T>C, NM_001329958.1:c.*66T>C, NM_014144.1:c.*66T>C, NR_024621.1:n.570T>C

Select item 14909033793.

rs1490903379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2308424 (GRCh38)
11:2329654 (GRCh37)
Canonical SPDI:: NC_000011.10:2308423:G:A
Gene:: TSPAN32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00032/5 (TOMMO)
A=0.01458/40 (KOREAN)
HGVS:: NC_000011.10:g.2308424G>A, NC_000011.9:g.2329654G>A

Select item 14908110304.

rs1490811030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2314521 (GRCh38)
11:2335751 (GRCh37)
Canonical SPDI:: NC_000011.10:2314520:C:T
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.2314521C>T, NC_000011.9:g.2335751C>T, XM_005252719.5:c.598C>T, XM_005252719.4:c.598C>T, XM_005252719.3:c.598C>T, XM_005252719.2:c.598C>T, XM_005252719.1:c.598C>T, XM_005252720.5:c.598C>T, XM_005252720.4:c.598C>T, XM_005252720.3:c.598C>T, XM_005252720.2:c.598C>T, XM_005252720.1:c.598C>T, XM_011519815.4:c.523C>T, XM_011519815.3:c.418C>T, XM_011519815.2:c.523C>T, XM_011519815.1:c.418C>T, NM_005705.4:c.403C>T, XM_011519818.4:c.523C>T, XM_011519818.3:c.418C>T, XM_011519818.2:c.523C>T, XM_011519818.1:c.418C>T, NM_139022.3:c.493C>T, NM_139022.2:c.493C>T, NM_139024.3:c.356C>T, NM_005705.3:c.403C>T, XM_017017064.2:c.652C>T, XM_017017064.1:c.652C>T, XM_017017066.2:c.652C>T, XM_017017066.1:c.652C>T, XM_017017069.2:c.652C>T, XM_017017069.1:c.652C>T, XM_017017065.2:c.652C>T, XM_017017065.1:c.652C>T, XM_017017068.2:c.652C>T, XM_017017068.1:c.652C>T, XM_011519819.2:c.403C>T, XM_011519819.1:c.403C>T, XR_001747715.2:n.1096C>T, XR_001747715.1:n.1096C>T, NM_139024.2:c.356C>T, NM_005705.2:c.403C>T, XM_011519822.2:c.598C>T, XM_011519822.1:c.598C>T, XM_017017071.2:c.605C>T, XM_017017071.1:c.605C>T, XM_047426213.1:c.605C>T, XM_047426215.1:c.551C>T, XM_047426211.1:c.652C>T, XM_047426209.1:c.403C>T, XR_001747716.1:n.1096C>T, XM_047426210.1:c.652C>T, XM_047426212.1:c.523C>T, NM_139023.1:c.493C>T, NM_139024.1:c.356C>T, XM_047426214.1:c.605C>T, NM_005705.1:c.403C>T, XP_016872560.1:p.Ser202Phe, XP_047282169.1:p.Ser202Phe, XP_047282171.1:p.Ser184Phe, XP_047282170.1:p.Ser202Phe

Select item 14907355735.

rs1490735573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2308813 (GRCh38)
11:2330043 (GRCh37)
Canonical SPDI:: NC_000011.10:2308812:G:T
Gene:: TSPAN32 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.2308813G>T, NC_000011.9:g.2330043G>T

Select item 14905960036.

rs1490596003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2315663 (GRCh38)
11:2336893 (GRCh37)
Canonical SPDI:: NC_000011.10:2315662:G:A
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2315663G>A, NC_000011.9:g.2336893G>A, XM_047426213.1:c.*1123G>A, XM_047426215.1:c.*1123G>A, XM_047426211.1:c.*352G>A, XM_047426212.1:c.*352G>A

Select item 14904537297.

rs1490453729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2304108 (GRCh38)
11:2325338 (GRCh37)
Canonical SPDI:: NC_000011.10:2304107:C:T
Gene:: TSPAN32 (Varview), C11orf21 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.2304108C>T, NC_000011.9:g.2325338C>T, XM_005252719.5:c.288C>T, XM_005252719.4:c.288C>T, XM_005252719.3:c.288C>T, XM_005252719.2:c.288C>T, XM_005252719.1:c.288C>T, XM_005252720.5:c.288C>T, XM_005252720.4:c.288C>T, XM_005252720.3:c.288C>T, XM_005252720.2:c.288C>T, XM_005252720.1:c.288C>T, XM_011519815.4:c.288C>T, XM_011519815.3:c.183C>T, XM_011519815.2:c.288C>T, XM_011519815.1:c.183C>T, NM_005705.4:c.93C>T, XM_011519818.4:c.288C>T, XM_011519818.3:c.183C>T, XM_011519818.2:c.288C>T, XM_011519818.1:c.183C>T, NM_139022.3:c.183C>T, NM_139022.2:c.183C>T, NM_139024.3:c.93C>T, NM_005705.3:c.93C>T, XM_011519819.2:c.93C>T, XM_011519819.1:c.93C>T, NM_139024.2:c.93C>T, NM_005705.2:c.93C>T, XM_011519822.2:c.288C>T, XM_011519822.1:c.288C>T, XM_047426215.1:c.288C>T, XM_047426209.1:c.93C>T, XM_047426212.1:c.288C>T, NM_139023.1:c.183C>T, NM_139024.1:c.93C>T, NM_005705.1:c.93C>T

Select item 14903209518.

rs1490320951 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAGAAAA>- [Show Flanks]
Chromosome:: 11:2314173 (GRCh38)
11:2335403 (GRCh37)
Canonical SPDI:: NC_000011.10:2314168:AAAAAAAAAAGAAAA:AAAA
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.2314173_2314183del, NC_000011.9:g.2335403_2335413del

Select item 14902501239.

rs1490250123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2317023 (GRCh38)
11:2338253 (GRCh37)
Canonical SPDI:: NC_000011.10:2317022:C:T
Gene:: TSPAN32 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.2317023C>T, NC_000011.9:g.2338253C>T

Select item 149022468310.

rs1490224683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:2315194 (GRCh38)
11:2336424 (GRCh37)
Canonical SPDI:: NC_000011.10:2315193:T:A
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00111/2 (Korea1K)
A=0.0017/28 (TOMMO)
HGVS:: NC_000011.10:g.2315194T>A, NC_000011.9:g.2336424T>A, XM_047426213.1:c.*654T>A, XM_047426215.1:c.*654T>A

Select item 148996543411.

rs1489965434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2304515 (GRCh38)
11:2325745 (GRCh37)
Canonical SPDI:: NC_000011.10:2304514:C:A,NC_000011.10:2304514:C:T
Gene:: TSPAN32 (Varview), C11orf21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.2304515C>A, NC_000011.10:g.2304515C>T, NC_000011.9:g.2325745C>A, NC_000011.9:g.2325745C>T

Select item 148976485412.

rs1489764854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2302682 (GRCh38)
11:2323912 (GRCh37)
Canonical SPDI:: NC_000011.10:2302681:C:G,NC_000011.10:2302681:C:T
Gene:: TSPAN32 (Varview), C11orf21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2302682C>G, NC_000011.10:g.2302682C>T, NC_000011.9:g.2323912C>G, NC_000011.9:g.2323912C>T

Select item 148971411513.

rs1489714115 has merged into rs34400624 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 11:2308671 (GRCh38)
11:2329901 (GRCh37)
Canonical SPDI:: NC_000011.10:2308664:CCCCCCCC:CCCCCC,NC_000011.10:2308664:CCCCCCCC:CCCCCCC,NC_000011.10:2308664:CCCCCCCC:CCCCCCCCC
Gene:: TSPAN32 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.04812/1517 (GnomAD)
-=0.05748/604 (TOMMO)
-=0.07607/96 (Korea1K)
C=0.1/4 (GENOME_DK)
C=0.33854/1695 (1000Genomes)
HGVS:: NC_000011.10:g.2308671_2308672del, NC_000011.10:g.2308672del, NC_000011.10:g.2308672dup, NC_000011.9:g.2329901_2329902del, NC_000011.9:g.2329902del, NC_000011.9:g.2329902dup

Select item 148942218514.

rs1489422185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2316488 (GRCh38)
11:2337718 (GRCh37)
Canonical SPDI:: NC_000011.10:2316487:C:T
Gene:: TSPAN32 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000011.10:g.2316488C>T, NC_000011.9:g.2337718C>T, XM_005252720.5:c.*416C>T, XM_005252720.4:c.*416C>T, XM_005252720.3:c.*416C>T, XM_005252720.2:c.*416C>T, XM_005252720.1:c.*416C>T, XM_017017069.2:c.*416C>T, XM_017017069.1:c.*416C>T, XM_047426213.1:c.*1948C>T, XM_047426215.1:c.*1948C>T

Select item 148941489215.

rs1489414892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2309394 (GRCh38)
11:2330624 (GRCh37)
Canonical SPDI:: NC_000011.10:2309393:A:G
Gene:: TSPAN32 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2309394A>G, NC_000011.9:g.2330624A>G, XM_017017064.2:c.-295A>G, XM_017017064.1:c.-295A>G, XM_017017066.2:c.-295A>G, XM_017017066.1:c.-295A>G, XM_017017069.2:c.-295A>G, XM_017017069.1:c.-295A>G, XM_017017065.2:c.-295A>G, XM_017017065.1:c.-295A>G, XM_017017068.2:c.-295A>G, XM_017017068.1:c.-295A>G, XR_001747715.2:n.150A>G, XR_001747715.1:n.150A>G, XM_017017071.2:c.-295A>G, XM_017017071.1:c.-295A>G, XM_047426213.1:c.-295A>G, XM_047426211.1:c.-295A>G, XR_001747716.1:n.150A>G, XM_047426210.1:c.-295A>G, XM_047426214.1:c.-295A>G

Select item 148939208316.

rs1489392083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:2315893 (GRCh38)
11:2337123 (GRCh37)
Canonical SPDI:: NC_000011.10:2315892:A:G
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2315893A>G, NC_000011.9:g.2337123A>G, XM_005252720.5:c.673A>G, XM_005252720.4:c.673A>G, XM_005252720.3:c.673A>G, XM_005252720.2:c.673A>G, XM_005252720.1:c.673A>G, XM_017017069.2:c.727A>G, XM_017017069.1:c.727A>G, XR_001747715.2:n.1171A>G, XR_001747715.1:n.1171A>G, XM_047426213.1:c.*1353A>G, XM_047426215.1:c.*1353A>G, XM_047426211.1:c.*582A>G, XR_001747716.1:n.1171A>G, XM_047426212.1:c.*582A>G, XM_047426214.1:c.*56A>G, XP_005252777.1:p.Met225Val, XP_016872558.1:p.Met243Val

Select item 148930118517.

rs1489301185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2312117 (GRCh38)
11:2333347 (GRCh37)
Canonical SPDI:: NC_000011.10:2312116:T:C
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2312117T>C, NC_000011.9:g.2333347T>C

Select item 148929800218.

rs1489298002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2312878 (GRCh38)
11:2334108 (GRCh37)
Canonical SPDI:: NC_000011.10:2312877:T:C
Gene:: TSPAN32 (Varview), LOC124902612 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.2312878T>C, NC_000011.9:g.2334108T>C, XR_007062552.1:n.1024A>G

Select item 148916123419.

rs1489161234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2306898 (GRCh38)
11:2328128 (GRCh37)
Canonical SPDI:: NC_000011.10:2306897:G:T
Gene:: TSPAN32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.2306898G>T, NC_000011.9:g.2328128G>T

Select item 148912481220.

rs1489124812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2298637 (GRCh38)
11:2319867 (GRCh37)
Canonical SPDI:: NC_000011.10:2298636:C:A
Gene:: C11orf21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.2298637C>A, NC_000011.9:g.2319867C>A

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