SNP Links for Gene (Select 150590) - SNP

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Select item 14911839501.

rs1491183950 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:99151463 (GRCh38)
2:99767926 (GRCh37)
Canonical SPDI:: NC_000002.12:99151462:CA:
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02563/304 (ALFA)
-=0.00056/1 (Korea1K)
-=0.00118/44 (GnomAD)
-=0.00758/125 (TOMMO)
HGVS:: NC_000002.12:g.99151463_99151464del, NC_000002.11:g.99767926_99767927del, NG_050665.1:g.1509_1510del, NM_144706.4:c.*629_*630del, NM_144706.3:c.*629_*630del, NM_144706.2:c.*629_*630del, NM_001317992.2:c.*629_*630del, NM_001317992.1:c.*629_*630del

Select item 14911024072.

rs1491102407 has merged into rs55966864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:99151473 (GRCh38)
2:99767936 (GRCh37)
Canonical SPDI:: NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.99151473_99151487del, NC_000002.12:g.99151474_99151487del, NC_000002.12:g.99151475_99151487del, NC_000002.12:g.99151476_99151487del, NC_000002.12:g.99151478_99151487del, NC_000002.12:g.99151479_99151487del, NC_000002.12:g.99151480_99151487del, NC_000002.12:g.99151481_99151487del, NC_000002.12:g.99151483_99151487del, NC_000002.12:g.99151484_99151487del, NC_000002.12:g.99151485_99151487del, NC_000002.12:g.99151486_99151487del, NC_000002.12:g.99151487del, NC_000002.12:g.99151487dup, NC_000002.12:g.99151486_99151487dup, NC_000002.12:g.99151485_99151487dup, NC_000002.12:g.99151484_99151487dup, NC_000002.12:g.99151483_99151487dup, NC_000002.12:g.99151482_99151487dup, NC_000002.12:g.99151466_99151487dup, NC_000002.12:g.99151487_99151488insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.99767936_99767950del, NC_000002.11:g.99767937_99767950del, NC_000002.11:g.99767938_99767950del, NC_000002.11:g.99767939_99767950del, NC_000002.11:g.99767941_99767950del, NC_000002.11:g.99767942_99767950del, NC_000002.11:g.99767943_99767950del, NC_000002.11:g.99767944_99767950del, NC_000002.11:g.99767946_99767950del, NC_000002.11:g.99767947_99767950del, NC_000002.11:g.99767948_99767950del, NC_000002.11:g.99767949_99767950del, NC_000002.11:g.99767950del, NC_000002.11:g.99767950dup, NC_000002.11:g.99767949_99767950dup, NC_000002.11:g.99767948_99767950dup, NC_000002.11:g.99767947_99767950dup, NC_000002.11:g.99767946_99767950dup, NC_000002.11:g.99767945_99767950dup, NC_000002.11:g.99767929_99767950dup, NC_000002.11:g.99767950_99767951insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050665.1:g.1519_1533del, NG_050665.1:g.1520_1533del, NG_050665.1:g.1521_1533del, NG_050665.1:g.1522_1533del, NG_050665.1:g.1524_1533del, NG_050665.1:g.1525_1533del, NG_050665.1:g.1526_1533del, NG_050665.1:g.1527_1533del, NG_050665.1:g.1529_1533del, NG_050665.1:g.1530_1533del, NG_050665.1:g.1531_1533del, NG_050665.1:g.1532_1533del, NG_050665.1:g.1533del, NG_050665.1:g.1533dup, NG_050665.1:g.1532_1533dup, NG_050665.1:g.1531_1533dup, NG_050665.1:g.1530_1533dup, NG_050665.1:g.1529_1533dup, NG_050665.1:g.1528_1533dup, NG_050665.1:g.1512_1533dup, NG_050665.1:g.1533_1534insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.4:c.*639_*653del, NM_144706.4:c.*640_*653del, NM_144706.4:c.*641_*653del, NM_144706.4:c.*642_*653del, NM_144706.4:c.*644_*653del, NM_144706.4:c.*645_*653del, NM_144706.4:c.*646_*653del, NM_144706.4:c.*647_*653del, NM_144706.4:c.*649_*653del, NM_144706.4:c.*650_*653del, NM_144706.4:c.*651_*653del, NM_144706.4:c.*652_*653del, NM_144706.4:c.*653del, NM_144706.4:c.*653dup, NM_144706.4:c.*652_*653dup, NM_144706.4:c.*651_*653dup, NM_144706.4:c.*650_*653dup, NM_144706.4:c.*649_*653dup, NM_144706.4:c.*648_*653dup, NM_144706.4:c.*632_*653dup, NM_144706.4:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.3:c.*639_*653del, NM_144706.3:c.*640_*653del, NM_144706.3:c.*641_*653del, NM_144706.3:c.*642_*653del, NM_144706.3:c.*644_*653del, NM_144706.3:c.*645_*653del, NM_144706.3:c.*646_*653del, NM_144706.3:c.*647_*653del, NM_144706.3:c.*649_*653del, NM_144706.3:c.*650_*653del, NM_144706.3:c.*651_*653del, NM_144706.3:c.*652_*653del, NM_144706.3:c.*653del, NM_144706.3:c.*653dup, NM_144706.3:c.*652_*653dup, NM_144706.3:c.*651_*653dup, NM_144706.3:c.*650_*653dup, NM_144706.3:c.*649_*653dup, NM_144706.3:c.*648_*653dup, NM_144706.3:c.*632_*653dup, NM_144706.3:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_144706.2:c.*639_*653del, NM_144706.2:c.*640_*653del, NM_144706.2:c.*641_*653del, NM_144706.2:c.*642_*653del, NM_144706.2:c.*644_*653del, NM_144706.2:c.*645_*653del, NM_144706.2:c.*646_*653del, NM_144706.2:c.*647_*653del, NM_144706.2:c.*649_*653del, NM_144706.2:c.*650_*653del, NM_144706.2:c.*651_*653del, NM_144706.2:c.*652_*653del, NM_144706.2:c.*653del, NM_144706.2:c.*653dup, NM_144706.2:c.*652_*653dup, NM_144706.2:c.*651_*653dup, NM_144706.2:c.*650_*653dup, NM_144706.2:c.*649_*653dup, NM_144706.2:c.*648_*653dup, NM_144706.2:c.*632_*653dup, NM_144706.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001317992.2:c.*639_*653del, NM_001317992.2:c.*640_*653del, NM_001317992.2:c.*641_*653del, NM_001317992.2:c.*642_*653del, NM_001317992.2:c.*644_*653del, NM_001317992.2:c.*645_*653del, NM_001317992.2:c.*646_*653del, NM_001317992.2:c.*647_*653del, NM_001317992.2:c.*649_*653del, NM_001317992.2:c.*650_*653del, NM_001317992.2:c.*651_*653del, NM_001317992.2:c.*652_*653del, NM_001317992.2:c.*653del, NM_001317992.2:c.*653dup, NM_001317992.2:c.*652_*653dup, NM_001317992.2:c.*651_*653dup, NM_001317992.2:c.*650_*653dup, NM_001317992.2:c.*649_*653dup, NM_001317992.2:c.*648_*653dup, NM_001317992.2:c.*632_*653dup, NM_001317992.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001317992.1:c.*639_*653del, NM_001317992.1:c.*640_*653del, NM_001317992.1:c.*641_*653del, NM_001317992.1:c.*642_*653del, NM_001317992.1:c.*644_*653del, NM_001317992.1:c.*645_*653del, NM_001317992.1:c.*646_*653del, NM_001317992.1:c.*647_*653del, NM_001317992.1:c.*649_*653del, NM_001317992.1:c.*650_*653del, NM_001317992.1:c.*651_*653del, NM_001317992.1:c.*652_*653del, NM_001317992.1:c.*653del, NM_001317992.1:c.*653dup, NM_001317992.1:c.*652_*653dup, NM_001317992.1:c.*651_*653dup, NM_001317992.1:c.*650_*653dup, NM_001317992.1:c.*649_*653dup, NM_001317992.1:c.*648_*653dup, NM_001317992.1:c.*632_*653dup, NM_001317992.1:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909400723.

rs1490940072 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:99151702 (GRCh38)
2:99768165 (GRCh37)
Canonical SPDI:: NC_000002.12:99151701:TTTTT:TTTT
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.99151706del, NC_000002.11:g.99768169del, NG_050665.1:g.1752del

Select item 14907191234.

rs1490719123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:99144031 (GRCh38)
2:99760495 (GRCh37)
Canonical SPDI:: NC_000002.12:99144031:TTTTTTT:TTTTTTTT
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.99144038dup, NC_000002.11:g.99760501dup

Select item 14899009795.

rs1489900979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99143536 (GRCh38)
2:99759999 (GRCh37)
Canonical SPDI:: NC_000002.12:99143535:T:C
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.99143536T>C, NC_000002.11:g.99759999T>C

Select item 14895272656.

rs1489527265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99139811 (GRCh38)
2:99756274 (GRCh37)
Canonical SPDI:: NC_000002.12:99139810:A:G
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99139811A>G, NC_000002.11:g.99756274A>G

Select item 14894337427.

rs1489433742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99141811 (GRCh38)
2:99758274 (GRCh37)
Canonical SPDI:: NC_000002.12:99141810:G:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99141811G>A, NC_000002.11:g.99758274G>A, NM_144706.4:c.-412G>A, NM_144706.3:c.-310G>A, NM_144706.2:c.-310G>A, NM_001317992.2:c.-508G>A, NM_001317992.1:c.-406G>A

Select item 14893909168.

rs1489390916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:99141044 (GRCh38)
2:99757507 (GRCh37)
Canonical SPDI:: NC_000002.12:99141043:C:A,NC_000002.12:99141043:C:T
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.99141044C>A, NC_000002.12:g.99141044C>T, NC_000002.11:g.99757507C>A, NC_000002.11:g.99757507C>T

Select item 14892925889.

rs1489292588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:99143164 (GRCh38)
2:99759627 (GRCh37)
Canonical SPDI:: NC_000002.12:99143163:C:A,NC_000002.12:99143163:C:G,NC_000002.12:99143163:C:T
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.003476/58 (TOMMO)
HGVS:: NC_000002.12:g.99143164C>A, NC_000002.12:g.99143164C>G, NC_000002.12:g.99143164C>T, NC_000002.11:g.99759627C>A, NC_000002.11:g.99759627C>G, NC_000002.11:g.99759627C>T

Select item 148884390210.

rs1488843902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99149738 (GRCh38)
2:99766201 (GRCh37)
Canonical SPDI:: NC_000002.12:99149737:G:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.99149738G>A, NC_000002.11:g.99766201G>A

Select item 148881271811.

rs1488812718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTGTA>- [Show Flanks]
Chromosome:: 2:99150840 (GRCh38)
2:99767303 (GRCh37)
Canonical SPDI:: NC_000002.12:99150838:ATTTGTA:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.99150840_99150845del, NC_000002.11:g.99767303_99767308del, NG_050665.1:g.886_891del, NM_144706.4:c.*6_*11del, NM_144706.3:c.*6_*11del, NM_144706.2:c.*6_*11del, NM_001317992.2:c.*6_*11del, NM_001317992.1:c.*6_*11del

Select item 148846295012.

rs1488462950 has merged into rs10605521 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:99143145 (GRCh38)
2:99759608 (GRCh37)
Canonical SPDI:: NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:99143133:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0301/18 (NorthernSweden)
HGVS:: NC_000002.12:g.99143145_99143159del, NC_000002.12:g.99143146_99143159del, NC_000002.12:g.99143147_99143159del, NC_000002.12:g.99143148_99143159del, NC_000002.12:g.99143149_99143159del, NC_000002.12:g.99143150_99143159del, NC_000002.12:g.99143151_99143159del, NC_000002.12:g.99143153_99143159del, NC_000002.12:g.99143154_99143159del, NC_000002.12:g.99143155_99143159del, NC_000002.12:g.99143156_99143159del, NC_000002.12:g.99143157_99143159del, NC_000002.12:g.99143158_99143159del, NC_000002.12:g.99143159del, NC_000002.12:g.99143159dup, NC_000002.12:g.99143158_99143159dup, NC_000002.12:g.99143157_99143159dup, NC_000002.12:g.99143156_99143159dup, NC_000002.12:g.99143155_99143159dup, NC_000002.12:g.99143154_99143159dup, NC_000002.11:g.99759608_99759622del, NC_000002.11:g.99759609_99759622del, NC_000002.11:g.99759610_99759622del, NC_000002.11:g.99759611_99759622del, NC_000002.11:g.99759612_99759622del, NC_000002.11:g.99759613_99759622del, NC_000002.11:g.99759614_99759622del, NC_000002.11:g.99759616_99759622del, NC_000002.11:g.99759617_99759622del, NC_000002.11:g.99759618_99759622del, NC_000002.11:g.99759619_99759622del, NC_000002.11:g.99759620_99759622del, NC_000002.11:g.99759621_99759622del, NC_000002.11:g.99759622del, NC_000002.11:g.99759622dup, NC_000002.11:g.99759621_99759622dup, NC_000002.11:g.99759620_99759622dup, NC_000002.11:g.99759619_99759622dup, NC_000002.11:g.99759618_99759622dup, NC_000002.11:g.99759617_99759622dup

Select item 148843236013.

rs1488432360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99144773 (GRCh38)
2:99761236 (GRCh37)
Canonical SPDI:: NC_000002.12:99144772:A:G
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.99144773A>G, NC_000002.11:g.99761236A>G

Select item 148841926314.

rs1488419263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:99144650 (GRCh38)
2:99761113 (GRCh37)
Canonical SPDI:: NC_000002.12:99144649:A:C
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.99144650A>C, NC_000002.11:g.99761113A>C

Select item 148820479115.

rs1488204791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:99148906 (GRCh38)
2:99765369 (GRCh37)
Canonical SPDI:: NC_000002.12:99148905:A:G
Gene:: TSGA10 (Varview), C2orf15 (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_000002.12:g.99148906A>G, NC_000002.11:g.99765369A>G

Select item 148816253416.

rs1488162534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:99149364 (GRCh38)
2:99765827 (GRCh37)
Canonical SPDI:: NC_000002.12:99149363:C:T
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000002.12:g.99149364C>T, NC_000002.11:g.99765827C>T

Select item 148790242517.

rs1487902425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:99146925 (GRCh38)
2:99763388 (GRCh37)
Canonical SPDI:: NC_000002.12:99146924:C:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.99146925C>A, NC_000002.11:g.99763388C>A

Select item 148779588318.

rs1487795883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:99141541 (GRCh38)
2:99758004 (GRCh37)
Canonical SPDI:: NC_000002.12:99141540:C:G
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000018/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.99141541C>G, NC_000002.11:g.99758004C>G, NM_182911.4:c.-598G>C, NM_182911.3:c.-598G>C, XM_047445933.1:c.-513G>C, NM_001349014.1:c.-605G>C

Select item 148674705719.

rs1486747057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:99147332 (GRCh38)
2:99763795 (GRCh37)
Canonical SPDI:: NC_000002.12:99147331:G:A
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.99147332G>A, NC_000002.11:g.99763795G>A

Select item 148671524820.

rs1486715248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:99149790 (GRCh38)
2:99766253 (GRCh37)
Canonical SPDI:: NC_000002.12:99149789:T:C
Gene:: TSGA10 (Varview), C2orf15 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000031/4 (GnomAD)
C=0.003422/10 (KOREAN)
HGVS:: NC_000002.12:g.99149790T>C, NC_000002.11:g.99766253T>C

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