SNP Links for Gene (Select 7105) - SNP

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Select item 14909121721.

rs1490912172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100634642 (GRCh38)
X:99889639 (GRCh37)
Canonical SPDI:: NC_000023.11:100634641:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100634642C>T, NC_000023.10:g.99889639C>T, NG_012534.1:g.7156G>A

Select item 14908331582.

rs1490833158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:100637847 (GRCh38)
X:99892844 (GRCh37)
Canonical SPDI:: NC_000023.11:100637846:C:A,NC_000023.11:100637846:C:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100637847C>A, NC_000023.11:g.100637847C>G, NC_000023.10:g.99892844C>A, NC_000023.10:g.99892844C>G, NG_012534.1:g.3951G>T, NG_012534.1:g.3951G>C

Select item 14906701683.

rs1490670168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:100636405 (GRCh38)
X:99891402 (GRCh37)
Canonical SPDI:: NC_000023.11:100636404:C:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000048/5 (GnomAD)
A=0.000064/17 (TOPMED)
HGVS:: NC_000023.11:g.100636405C>A, NC_000023.10:g.99891402C>A, NG_012534.1:g.5393G>T, NM_001278740.2:c.-392G>T, NM_001278740.1:c.-392G>T

Select item 14903285804.

rs1490328580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:100636504 (GRCh38)
X:99891501 (GRCh37)
Canonical SPDI:: NC_000023.11:100636503:A:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.100636504A>T, NC_000023.10:g.99891501A>T, NG_012534.1:g.5294T>A, NM_001278740.2:c.-491T>A, NM_001278740.1:c.-491T>A

Select item 14893717455.

rs1489371745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100627486 (GRCh38)
X:99882483 (GRCh37)
Canonical SPDI:: NC_000023.11:100627485:G:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100627486G>A, NC_000023.10:g.99882483G>A, NG_012534.1:g.14312C>T, NM_003270.4:c.*2540C>T, NM_003270.3:c.*2540C>T, NM_001278740.2:c.*2540C>T, NM_001278740.1:c.*2540C>T, NM_001278741.1:c.*2540C>T, NM_001278743.1:c.*2540C>T, NM_001278742.1:c.*2492C>T, XM_011531018.2:c.*2540C>T

Select item 14885820616.

rs1488582061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100638953 (GRCh38)
X:99893950 (GRCh37)
Canonical SPDI:: NC_000023.11:100638952:A:G
Gene:: TSPAN6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.100638953A>G, NC_000023.10:g.99893950A>G, NG_012534.1:g.2845T>C

Select item 14885722397.

rs1488572239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100637093 (GRCh38)
X:99892090 (GRCh37)
Canonical SPDI:: NC_000023.11:100637092:G:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.100637093G>A, NC_000023.10:g.99892090G>A, NG_012534.1:g.4705C>T, NM_001278741.1:c.-478C>T, NM_001278743.1:c.-478C>T, NM_001278742.1:c.-478C>T, XM_011531018.2:c.-495C>T

Select item 14884487198.

rs1488448719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:100638204 (GRCh38)
X:99893201 (GRCh37)
Canonical SPDI:: NC_000023.11:100638203:C:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100638204C>A, NC_000023.10:g.99893201C>A, NG_012534.1:g.3594G>T

Select item 14872617029.

rs1487261702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100633857 (GRCh38)
X:99888854 (GRCh37)
Canonical SPDI:: NC_000023.11:100633856:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/2 (GnomAD)
HGVS:: NC_000023.11:g.100633857T>C, NC_000023.10:g.99888854T>C, NG_012534.1:g.7941A>G

Select item 148723626810.

rs1487236268 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: X:100629192 (GRCh38)
X:99884189 (GRCh37)
Canonical SPDI:: NC_000023.11:100629187:ACAACAA:ACAA
Gene:: TSPAN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAA=0./0 (ALFA)
-=0.000045/1 (TOMMO)
-=0.000048/5 (GnomAD)
-=0.000083/22 (TOPMED)
-=0.000416/2 (1000Genomes)
HGVS:: NC_000023.11:g.100629189CAA[1], NC_000023.10:g.99884186CAA[1], NG_012534.1:g.12605TGT[1], NM_003270.4:c.*833TGT[1], NM_003270.3:c.*833TGT[1], NM_001278740.2:c.*833TGT[1], NM_001278740.1:c.*833TGT[1], NM_001278741.1:c.*833TGT[1], NM_001278743.1:c.*833TGT[1], NM_001278742.1:c.*785TGT[1], XM_011531018.2:c.*833TGT[1], XM_011531018.1:c.*833TGT[1]

Select item 148687648311.

rs1486876483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100629004 (GRCh38)
X:99884001 (GRCh37)
Canonical SPDI:: NC_000023.11:100629003:C:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100629004C>T, NC_000023.10:g.99884001C>T, NG_012534.1:g.12794G>A, NM_003270.4:c.*1022G>A, NM_003270.3:c.*1022G>A, NM_001278740.2:c.*1022G>A, NM_001278740.1:c.*1022G>A, NM_001278741.1:c.*1022G>A, NM_001278743.1:c.*1022G>A, NM_001278742.1:c.*974G>A, XM_011531018.2:c.*1022G>A

Select item 148663811812.

rs1486638118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:100635093 (GRCh38)
X:99890090 (GRCh37)
Canonical SPDI:: NC_000023.11:100635092:G:A,NC_000023.11:100635092:G:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.100635093G>A, NC_000023.11:g.100635093G>C, NC_000023.10:g.99890090G>A, NC_000023.10:g.99890090G>C, NG_012534.1:g.6705C>T, NG_012534.1:g.6705C>G

Select item 148641883113.

rs1486418831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:100629655 (GRCh38)
X:99884652 (GRCh37)
Canonical SPDI:: NC_000023.11:100629654:C:A
Gene:: TSPAN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.100629655C>A, NC_000023.10:g.99884652C>A, NG_012534.1:g.12143G>T, NM_003270.4:c.*371G>T, NM_003270.3:c.*371G>T, NM_001278740.2:c.*371G>T, NM_001278740.1:c.*371G>T, NM_001278741.1:c.*371G>T, NM_001278743.1:c.*371G>T, NM_001278742.1:c.*323G>T, XM_011531018.2:c.*371G>T, XM_011531018.1:c.*371G>T

Select item 148609894014.

rs1486098940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100628791 (GRCh38)
X:99883788 (GRCh37)
Canonical SPDI:: NC_000023.11:100628790:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.100628791T>C, NC_000023.10:g.99883788T>C, NG_012534.1:g.13007A>G, NM_003270.4:c.*1235A>G, NM_003270.3:c.*1235A>G, NM_001278740.2:c.*1235A>G, NM_001278740.1:c.*1235A>G, NM_001278741.1:c.*1235A>G, NM_001278743.1:c.*1235A>G, NM_001278742.1:c.*1187A>G, XM_011531018.2:c.*1235A>G

Select item 148607368715.

rs1486073687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:100637463 (GRCh38)
X:99892461 (GRCh37)
Canonical SPDI:: NC_000023.11:100637463:TTTTTT:TTTTTTT
Gene:: TSPAN6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100637469dup, NC_000023.10:g.99892466dup, NG_012534.1:g.4334dup

Select item 148585876316.

rs1485858763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:100626746 (GRCh38)
X:99881743 (GRCh37)
Canonical SPDI:: NC_000023.11:100626745:G:A,NC_000023.11:100626745:G:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00069/2 (KOREAN)
HGVS:: NC_000023.11:g.100626746G>A, NC_000023.11:g.100626746G>T, NC_000023.10:g.99881743G>A, NC_000023.10:g.99881743G>T

Select item 148579205917.

rs1485792059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:100632607 (GRCh38)
X:99887604 (GRCh37)
Canonical SPDI:: NC_000023.11:100632606:A:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100632607A>C, NC_000023.10:g.99887604A>C, NG_012534.1:g.9191T>G

Select item 148555693718.

rs1485556937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:100636877 (GRCh38)
X:99891874 (GRCh37)
Canonical SPDI:: NC_000023.11:100636876:A:T
Gene:: TSPAN6 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.100636877A>T, NC_000023.10:g.99891874A>T, NG_012534.1:g.4921T>A, NM_001278741.1:c.-262T>A, NM_001278743.1:c.-262T>A, NM_001278742.1:c.-262T>A, XM_011531018.2:c.-279T>A

Select item 148544189019.

rs1485441890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100630327 (GRCh38)
X:99885324 (GRCh37)
Canonical SPDI:: NC_000023.11:100630326:T:C
Gene:: TSPAN6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.020833/1 (Vietnamese)
HGVS:: NC_000023.11:g.100630327T>C, NC_000023.10:g.99885324T>C, NG_012534.1:g.11471A>G

Select item 148542024620.

rs1485420246 has merged into rs112778931 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: X:100636975 (GRCh38)
X:99891972 (GRCh37)
Canonical SPDI:: NC_000023.11:100636974:TTTTTTTT:TTTTTTT,NC_000023.11:100636974:TTTTTTTT:TTTTTTTTT
Gene:: TSPAN6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000023.11:g.100636982del, NC_000023.11:g.100636982dup, NC_000023.10:g.99891979del, NC_000023.10:g.99891979dup, NG_012534.1:g.4823del, NG_012534.1:g.4823dup, NM_001278741.1:c.-360del, NM_001278741.1:c.-360dup, NM_001278743.1:c.-360del, NM_001278743.1:c.-360dup, NM_001278742.1:c.-360del, NM_001278742.1:c.-360dup, XM_011531018.2:c.-377del, XM_011531018.2:c.-377dup

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