SNP Links for Gene (Select 7103) - SNP

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Select item 14915822901.

rs1491582290 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:71156269 (GRCh38)
12:71550049 (GRCh37)
Canonical SPDI:: NC_000012.12:71156267:ACA:A
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00023/12 (GnomAD)
HGVS:: NC_000012.12:g.71156269_71156270del, NC_000012.11:g.71550049_71550050del, NG_046933.1:g.6731_6732del

Select item 14915585062.

rs1491558506 has merged into rs35204865 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:71137605 (GRCh38)
12:71531385 (GRCh37)
Canonical SPDI:: NC_000012.12:71137604:AAAAAAAA:AAAAAAA,NC_000012.12:71137604:AAAAAAAA:AAAAAAAAA
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.2807/1486 (ALFA)
A=0.14799/663 (Estonian)
A=0.17836/178 (GoNL)
A=0.18474/712 (ALSPAC)
A=0.18554/688 (TWINSUK)
A=0.20833/125 (NorthernSweden)
A=0.275/11 (GENOME_DK)
A=0.39077/1957 (1000Genomes)
A=0.41854/7015 (TOMMO)
HGVS:: NC_000012.12:g.71137612del, NC_000012.12:g.71137612dup, NC_000012.11:g.71531392del, NC_000012.11:g.71531392dup, NG_046933.1:g.25395del, NG_046933.1:g.25395dup

Select item 14914784513.

rs1491478451 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:71135256 (GRCh38)
12:71529037 (GRCh37)
Canonical SPDI:: NC_000012.12:71135256::A
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000012.12:g.71135256_71135257insA, NC_000012.11:g.71529036_71529037insA, NG_046933.1:g.27743_27744insT

Select item 14914375314.

rs1491437531 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:71135256 (GRCh38)
12:71529036 (GRCh37)
Canonical SPDI:: NC_000012.12:71135255:GT:
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00012/2 (TOMMO)
HGVS:: NC_000012.12:g.71135256_71135257del, NC_000012.11:g.71529036_71529037del, NG_046933.1:g.27743_27744del

Select item 14910176425.

rs1491017642 has merged into rs60574643 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:71151079 (GRCh38)
12:71544859 (GRCh37)
Canonical SPDI:: NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:71151066:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.03167/19 (NorthernSweden)
HGVS:: NC_000012.12:g.71151079_71151081del, NC_000012.12:g.71151080_71151081del, NC_000012.12:g.71151081del, NC_000012.12:g.71151081dup, NC_000012.12:g.71151080_71151081dup, NC_000012.12:g.71151079_71151081dup, NC_000012.11:g.71544859_71544861del, NC_000012.11:g.71544860_71544861del, NC_000012.11:g.71544861del, NC_000012.11:g.71544861dup, NC_000012.11:g.71544860_71544861dup, NC_000012.11:g.71544859_71544861dup, NG_046933.1:g.11931_11933del, NG_046933.1:g.11932_11933del, NG_046933.1:g.11933del, NG_046933.1:g.11933dup, NG_046933.1:g.11932_11933dup, NG_046933.1:g.11931_11933dup

Select item 14910069096.

rs1491006909 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:71129967 (GRCh38)
12:71523747 (GRCh37)
Canonical SPDI:: NC_000012.12:71129965:TCT:T
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00098/16 (ALFA)
HGVS:: NC_000012.12:g.71129967_71129968del, NC_000012.11:g.71523747_71523748del, NG_046933.1:g.33033_33034del

Select item 14910062097.

rs1491006209 has merged into rs35841431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 12:71149382 (GRCh38)
12:71543162 (GRCh37)
Canonical SPDI:: NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:71149369:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000012.12:g.71149382_71149386del, NC_000012.12:g.71149383_71149386del, NC_000012.12:g.71149384_71149386del, NC_000012.12:g.71149385_71149386del, NC_000012.12:g.71149386del, NC_000012.12:g.71149386dup, NC_000012.12:g.71149385_71149386dup, NC_000012.12:g.71149384_71149386dup, NC_000012.12:g.71149383_71149386dup, NC_000012.11:g.71543162_71543166del, NC_000012.11:g.71543163_71543166del, NC_000012.11:g.71543164_71543166del, NC_000012.11:g.71543165_71543166del, NC_000012.11:g.71543166del, NC_000012.11:g.71543166dup, NC_000012.11:g.71543165_71543166dup, NC_000012.11:g.71543164_71543166dup, NC_000012.11:g.71543163_71543166dup, NG_046933.1:g.13626_13630del, NG_046933.1:g.13627_13630del, NG_046933.1:g.13628_13630del, NG_046933.1:g.13629_13630del, NG_046933.1:g.13630del, NG_046933.1:g.13630dup, NG_046933.1:g.13629_13630dup, NG_046933.1:g.13628_13630dup, NG_046933.1:g.13627_13630dup

Select item 14908629118.

rs1490862911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:71144153 (GRCh38)
12:71537933 (GRCh37)
Canonical SPDI:: NC_000012.12:71144152:C:T
Gene:: TSPAN8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.71144153C>T, NC_000012.11:g.71537933C>T, NG_046933.1:g.18847G>A, NM_004616.3:c.121G>A, NM_004616.2:c.121G>A, NM_001369760.1:c.121G>A, NP_004607.1:p.Ala41Thr, NP_001356689.1:p.Ala41Thr

Select item 14907569989.

rs1490756998 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:71135304 (GRCh38)
12:71529084 (GRCh37)
Canonical SPDI:: NC_000012.12:71135303:A:
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.71135304del, NC_000012.11:g.71529084del, NG_046933.1:g.27696del

Select item 149070272910.

rs1490702729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:71152187 (GRCh38)
12:71545967 (GRCh37)
Canonical SPDI:: NC_000012.12:71152186:T:C
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.71152187T>C, NC_000012.11:g.71545967T>C, NG_046933.1:g.10813A>G

Select item 149063171811.

rs1490631718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:71126332 (GRCh38)
12:71520112 (GRCh37)
Canonical SPDI:: NC_000012.12:71126331:G:A
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.71126332G>A, NC_000012.11:g.71520112G>A, NG_046933.1:g.36668C>T

Select item 149058250612.

rs1490582506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:71158245 (GRCh38)
12:71552025 (GRCh37)
Canonical SPDI:: NC_000012.12:71158244:C:A,NC_000012.12:71158244:C:T
Gene:: TSPAN8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.71158245C>A, NC_000012.12:g.71158245C>T, NC_000012.11:g.71552025C>A, NC_000012.11:g.71552025C>T, NG_046933.1:g.4755G>T, NG_046933.1:g.4755G>A

Select item 149055204413.

rs1490552044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:71127173 (GRCh38)
12:71520953 (GRCh37)
Canonical SPDI:: NC_000012.12:71127172:T:C
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.00006/1 (TOMMO)
C=0.000546/1 (Korea1K)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.71127173T>C, NC_000012.11:g.71520953T>C, NG_046933.1:g.35827A>G

Select item 149051979314.

rs1490519793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 12:71142852 (GRCh38)
12:71536633 (GRCh37)
Canonical SPDI:: NC_000012.12:71142852:A:ACA
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000072/10 (GnomAD)
AC=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.71142853_71142854insCA, NC_000012.11:g.71536633_71536634insCA, NG_046933.1:g.20147_20148insGT

Select item 149024520115.

rs1490245201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:71125162 (GRCh38)
12:71518942 (GRCh37)
Canonical SPDI:: NC_000012.12:71125161:C:T
Gene:: TSPAN8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.71125162C>T, NC_000012.11:g.71518942C>T, NG_046933.1:g.37838G>A, NM_004616.3:c.*172G>A, NM_004616.2:c.*172G>A, NM_001369760.1:c.*172G>A

Select item 149022019216.

rs1490220192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:71140557 (GRCh38)
12:71534337 (GRCh37)
Canonical SPDI:: NC_000012.12:71140556:A:G
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.71140557A>G, NC_000012.11:g.71534337A>G, NG_046933.1:g.22443T>C

Select item 149021315217.

rs1490213152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:71142866 (GRCh38)
12:71536646 (GRCh37)
Canonical SPDI:: NC_000012.12:71142865:G:A,NC_000012.12:71142865:G:C
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00078/5 (1000Genomes)
HGVS:: NC_000012.12:g.71142866G>A, NC_000012.12:g.71142866G>C, NC_000012.11:g.71536646G>A, NC_000012.11:g.71536646G>C, NG_046933.1:g.20134C>T, NG_046933.1:g.20134C>G

Select item 149019439418.

rs1490194394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:71141902 (GRCh38)
12:71535682 (GRCh37)
Canonical SPDI:: NC_000012.12:71141901:C:T
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.71141902C>T, NC_000012.11:g.71535682C>T, NG_046933.1:g.21098G>A

Select item 148995508319.

rs1489955083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:71133983 (GRCh38)
12:71527763 (GRCh37)
Canonical SPDI:: NC_000012.12:71133982:A:G
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.71133983A>G, NC_000012.11:g.71527763A>G, NG_046933.1:g.29017T>C

Select item 148994010120.

rs1489940101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:71135135 (GRCh38)
12:71528915 (GRCh37)
Canonical SPDI:: NC_000012.12:71135134:T:C,NC_000012.12:71135134:T:G
Gene:: TSPAN8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.71135135T>C, NC_000012.12:g.71135135T>G, NC_000012.11:g.71528915T>C, NC_000012.11:g.71528915T>G, NG_046933.1:g.27865A>G, NG_046933.1:g.27865A>C

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