SNP Links for Gene (Select 79770) - SNP

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Select item 14914863731.

rs1491486373 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:134890204 (GRCh38)
5:134225895 (GRCh37)
Canonical SPDI:: NC_000005.10:134890204:C:CC
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.134890205dup, NC_000005.9:g.134225895dup, NG_053174.1:g.21436dup

Select item 14913077192.

rs1491307719 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:134890205 (GRCh38)
5:134225895 (GRCh37)
Canonical SPDI:: NC_000005.10:134890203:TCT:T
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.134890205_134890206del, NC_000005.9:g.134225895_134225896del, NG_053174.1:g.21436_21437del

Select item 14913072963.

rs1491307296 has merged into rs60114636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:134883596 (GRCh38)
5:134219286 (GRCh37)
Canonical SPDI:: NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:134883587:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134883596_134883611del, NC_000005.10:g.134883599_134883611del, NC_000005.10:g.134883600_134883611del, NC_000005.10:g.134883601_134883611del, NC_000005.10:g.134883603_134883611del, NC_000005.10:g.134883604_134883611del, NC_000005.10:g.134883605_134883611del, NC_000005.10:g.134883606_134883611del, NC_000005.10:g.134883607_134883611del, NC_000005.10:g.134883608_134883611del, NC_000005.10:g.134883609_134883611del, NC_000005.10:g.134883610_134883611del, NC_000005.10:g.134883611del, NC_000005.10:g.134883611dup, NC_000005.10:g.134883610_134883611dup, NC_000005.10:g.134883609_134883611dup, NC_000005.10:g.134883608_134883611dup, NC_000005.10:g.134883607_134883611dup, NC_000005.10:g.134883606_134883611dup, NC_000005.10:g.134883605_134883611dup, NC_000005.10:g.134883604_134883611dup, NC_000005.10:g.134883602_134883611dup, NC_000005.10:g.134883601_134883611dup, NC_000005.10:g.134883600_134883611dup, NC_000005.10:g.134883599_134883611dup, NC_000005.10:g.134883598_134883611dup, NC_000005.10:g.134883597_134883611dup, NC_000005.10:g.134883596_134883611dup, NC_000005.10:g.134883595_134883611dup, NC_000005.10:g.134883594_134883611dup, NC_000005.10:g.134883593_134883611dup, NC_000005.10:g.134883592_134883611dup, NC_000005.10:g.134883591_134883611dup, NC_000005.10:g.134883590_134883611dup, NC_000005.10:g.134883589_134883611dup, NC_000005.10:g.134883588_134883611dup, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.134883611_134883612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219286_134219301del, NC_000005.9:g.134219289_134219301del, NC_000005.9:g.134219290_134219301del, NC_000005.9:g.134219291_134219301del, NC_000005.9:g.134219293_134219301del, NC_000005.9:g.134219294_134219301del, NC_000005.9:g.134219295_134219301del, NC_000005.9:g.134219296_134219301del, NC_000005.9:g.134219297_134219301del, NC_000005.9:g.134219298_134219301del, NC_000005.9:g.134219299_134219301del, NC_000005.9:g.134219300_134219301del, NC_000005.9:g.134219301del, NC_000005.9:g.134219301dup, NC_000005.9:g.134219300_134219301dup, NC_000005.9:g.134219299_134219301dup, NC_000005.9:g.134219298_134219301dup, NC_000005.9:g.134219297_134219301dup, NC_000005.9:g.134219296_134219301dup, NC_000005.9:g.134219295_134219301dup, NC_000005.9:g.134219294_134219301dup, NC_000005.9:g.134219292_134219301dup, NC_000005.9:g.134219291_134219301dup, NC_000005.9:g.134219290_134219301dup, NC_000005.9:g.134219289_134219301dup, NC_000005.9:g.134219288_134219301dup, NC_000005.9:g.134219287_134219301dup, NC_000005.9:g.134219286_134219301dup, NC_000005.9:g.134219285_134219301dup, NC_000005.9:g.134219284_134219301dup, NC_000005.9:g.134219283_134219301dup, NC_000005.9:g.134219282_134219301dup, NC_000005.9:g.134219281_134219301dup, NC_000005.9:g.134219280_134219301dup, NC_000005.9:g.134219279_134219301dup, NC_000005.9:g.134219278_134219301dup, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.134219301_134219302insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14827_14842del, NG_053174.1:g.14830_14842del, NG_053174.1:g.14831_14842del, NG_053174.1:g.14832_14842del, NG_053174.1:g.14834_14842del, NG_053174.1:g.14835_14842del, NG_053174.1:g.14836_14842del, NG_053174.1:g.14837_14842del, NG_053174.1:g.14838_14842del, NG_053174.1:g.14839_14842del, NG_053174.1:g.14840_14842del, NG_053174.1:g.14841_14842del, NG_053174.1:g.14842del, NG_053174.1:g.14842dup, NG_053174.1:g.14841_14842dup, NG_053174.1:g.14840_14842dup, NG_053174.1:g.14839_14842dup, NG_053174.1:g.14838_14842dup, NG_053174.1:g.14837_14842dup, NG_053174.1:g.14836_14842dup, NG_053174.1:g.14835_14842dup, NG_053174.1:g.14833_14842dup, NG_053174.1:g.14832_14842dup, NG_053174.1:g.14831_14842dup, NG_053174.1:g.14830_14842dup, NG_053174.1:g.14829_14842dup, NG_053174.1:g.14828_14842dup, NG_053174.1:g.14827_14842dup, NG_053174.1:g.14826_14842dup, NG_053174.1:g.14825_14842dup, NG_053174.1:g.14824_14842dup, NG_053174.1:g.14823_14842dup, NG_053174.1:g.14822_14842dup, NG_053174.1:g.14821_14842dup, NG_053174.1:g.14820_14842dup, NG_053174.1:g.14819_14842dup, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053174.1:g.14842_14843insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912701034.

rs1491270103 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:134883587 (GRCh38)
5:134219277 (GRCh37)
Canonical SPDI:: NC_000005.10:134883586:CA:
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01113/132 (ALFA)
-=0.00247/39 (TOMMO)
HGVS:: NC_000005.10:g.134883587_134883588del, NC_000005.9:g.134219277_134219278del, NG_053174.1:g.14818_14819del

Select item 14910118485.

rs1491011848 has merged into rs11438328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:134896661 (GRCh38)
5:134232351 (GRCh37)
Canonical SPDI:: NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:134896651:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134896661_134896667del, NC_000005.10:g.134896664_134896667del, NC_000005.10:g.134896665_134896667del, NC_000005.10:g.134896666_134896667del, NC_000005.10:g.134896667del, NC_000005.10:g.134896667dup, NC_000005.10:g.134896666_134896667dup, NC_000005.10:g.134896665_134896667dup, NC_000005.10:g.134896664_134896667dup, NC_000005.10:g.134896652_134896667T[27]CTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.134232351_134232357del, NC_000005.9:g.134232354_134232357del, NC_000005.9:g.134232355_134232357del, NC_000005.9:g.134232356_134232357del, NC_000005.9:g.134232357del, NC_000005.9:g.134232357dup, NC_000005.9:g.134232356_134232357dup, NC_000005.9:g.134232355_134232357dup, NC_000005.9:g.134232354_134232357dup, NC_000005.9:g.134232342_134232357T[27]CTTTTTTTTTTTTTTTTTT[1], NG_053174.1:g.27892_27898del, NG_053174.1:g.27895_27898del, NG_053174.1:g.27896_27898del, NG_053174.1:g.27897_27898del, NG_053174.1:g.27898del, NG_053174.1:g.27898dup, NG_053174.1:g.27897_27898dup, NG_053174.1:g.27896_27898dup, NG_053174.1:g.27895_27898dup, NG_053174.1:g.27883_27898T[27]CTTTTTTTTTTTTTTTTTT[1]

Select item 14909310886.

rs1490931088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:134872174 (GRCh38)
5:134207864 (GRCh37)
Canonical SPDI:: NC_000005.10:134872173:G:A,NC_000005.10:134872173:G:T
Gene:: TXNDC15 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
T=0.000318/5 (TOMMO)
HGVS:: NC_000005.10:g.134872174G>A, NC_000005.10:g.134872174G>T, NC_000005.9:g.134207864G>A, NC_000005.9:g.134207864G>T, NG_053174.1:g.3405G>A, NG_053174.1:g.3405G>T

Select item 14908351687.

rs1490835168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134891081 (GRCh38)
5:134226771 (GRCh37)
Canonical SPDI:: NC_000005.10:134891080:A:G
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.134891081A>G, NC_000005.9:g.134226771A>G, NG_053174.1:g.22312A>G

Select item 14906107648.

rs1490610764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:134891966 (GRCh38)
5:134227656 (GRCh37)
Canonical SPDI:: NC_000005.10:134891965:C:T
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.00006/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.134891966C>T, NC_000005.9:g.134227656C>T, NG_053174.1:g.23197C>T

Select item 14905265859.

rs1490526585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:134890914 (GRCh38)
5:134226604 (GRCh37)
Canonical SPDI:: NC_000005.10:134890913:G:C
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134890914G>C, NC_000005.9:g.134226604G>C, NG_053174.1:g.22145G>C

Select item 149033039110.

rs1490330391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134890451 (GRCh38)
5:134226141 (GRCh37)
Canonical SPDI:: NC_000005.10:134890450:A:G
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.134890451A>G, NC_000005.9:g.134226141A>G, NG_053174.1:g.21682A>G

Select item 149027155511.

rs1490271555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134899577 (GRCh38)
5:134235267 (GRCh37)
Canonical SPDI:: NC_000005.10:134899576:G:A
Gene:: TXNDC15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.134899577G>A, NC_000005.9:g.134235267G>A, NG_053174.1:g.30808G>A, NM_024715.4:c.975G>A, NM_024715.3:c.975G>A, NM_001350735.2:c.771G>A, NM_001350735.1:c.771G>A

Select item 149027109012.

rs1490271090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:134876711 (GRCh38)
5:134212401 (GRCh37)
Canonical SPDI:: NC_000005.10:134876710:G:T
Gene:: TXNDC15 (Varview), LOC124901071 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134876711G>T, NC_000005.9:g.134212401G>T, NG_053174.1:g.7942G>T

Select item 149021308713.

rs1490213087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134890817 (GRCh38)
5:134226507 (GRCh37)
Canonical SPDI:: NC_000005.10:134890816:A:G
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000374/99 (TOPMED)
G=0.000463/65 (GnomAD)
HGVS:: NC_000005.10:g.134890817A>G, NC_000005.9:g.134226507A>G, NG_053174.1:g.22048A>G

Select item 149012995914.

rs1490129959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134872960 (GRCh38)
5:134208650 (GRCh37)
Canonical SPDI:: NC_000005.10:134872959:G:A
Gene:: TXNDC15 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134872960G>A, NC_000005.9:g.134208650G>A, NG_053174.1:g.4191G>A

Select item 149010543215.

rs1490105432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134899972 (GRCh38)
5:134235662 (GRCh37)
Canonical SPDI:: NC_000005.10:134899971:A:G
Gene:: TXNDC15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.134899972A>G, NC_000005.9:g.134235662A>G, NG_053174.1:g.31203A>G, NM_024715.4:c.*287A>G, NM_024715.3:c.*287A>G, NM_001350735.2:c.*287A>G, NM_001350735.1:c.*287A>G

Select item 149009273616.

rs1490092736 [Homo sapiens]

Variant type:: DEL
Alleles:: GCGCCTGCAAT>- [Show Flanks]
Chromosome:: 5:134882711 (GRCh38)
5:134218401 (GRCh37)
Canonical SPDI:: NC_000005.10:134882710:GCGCCTGCAAT:
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.134882711_134882721del, NC_000005.9:g.134218401_134218411del, NG_053174.1:g.13942_13952del

Select item 149006745417.

rs1490067454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134883513 (GRCh38)
5:134219203 (GRCh37)
Canonical SPDI:: NC_000005.10:134883512:G:A
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.134883513G>A, NC_000005.9:g.134219203G>A, NG_053174.1:g.14744G>A

Select item 148994651218.

rs1489946512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134900508 (GRCh38)
5:134236198 (GRCh37)
Canonical SPDI:: NC_000005.10:134900507:T:C
Gene:: TXNDC15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.134900508T>C, NC_000005.9:g.134236198T>C, NG_053174.1:g.31739T>C, NM_024715.4:c.*823T>C, NM_024715.3:c.*823T>C, NM_001350735.2:c.*823T>C, NM_001350735.1:c.*823T>C

Select item 148992082719.

rs1489920827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134876356 (GRCh38)
5:134212046 (GRCh37)
Canonical SPDI:: NC_000005.10:134876355:T:C
Gene:: TXNDC15 (Varview), LOC124901071 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.134876356T>C, NC_000005.9:g.134212046T>C, NG_053174.1:g.7587T>C

Select item 148979353220.

rs1489793532 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTATAT,GTATATCTGTTATT [Show Flanks]
Chromosome:: 5:134892965 (GRCh38)
5:134228656 (GRCh37)
Canonical SPDI:: NC_000005.10:134892965::GTATAT,NC_000005.10:134892965::GTATATCTGTTATT
Gene:: TXNDC15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTATATCTGTTATT=0./0 (ALFA)
GTATAT=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.134892965_134892966insGTATAT, NC_000005.10:g.134892965_134892966insGTATATCTGTTATT, NC_000005.9:g.134228655_134228656insGTATAT, NC_000005.9:g.134228655_134228656insGTATATCTGTTATT, NG_053174.1:g.24196_24197insGTATAT, NG_053174.1:g.24196_24197insGTATATCTGTTATT

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