SNP Links for Gene (Select 93081) - SNP

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Items: 1 to 20 of 2491

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Select item 14910896501.

rs1491089650 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:102771411 (GRCh38)
13:103423761 (GRCh37)
Canonical SPDI:: NC_000013.11:102771406:GTGTGT:GTGT
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102771407GT[2], NC_000013.10:g.103423757GT[2]

Select item 14907665882.

rs1490766588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102766660 (GRCh38)
13:103419010 (GRCh37)
Canonical SPDI:: NC_000013.11:102766659:G:A
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000013.11:g.102766660G>A, NC_000013.10:g.103419010G>A

Select item 14905708883.

rs1490570888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102766172 (GRCh38)
13:103418522 (GRCh37)
Canonical SPDI:: NC_000013.11:102766171:A:G
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.102766172A>G, NC_000013.10:g.103418522A>G, NM_138779.5:c.*229T>C, NM_138779.4:c.*229T>C, NM_138779.3:c.*229T>C, XM_005254097.4:c.*229T>C, XM_005254097.3:c.*229T>C, XM_005254097.2:c.*229T>C, XM_005254097.1:c.*229T>C, XM_017020852.3:c.*229T>C, XM_017020852.2:c.*229T>C, XM_017020852.1:c.*229T>C, XM_011521136.3:c.*229T>C, XM_011521136.2:c.*229T>C, XM_011521136.1:c.*229T>C, XM_024449439.2:c.*229T>C, XM_024449439.1:c.*229T>C, NM_001286776.2:c.*229T>C, NM_001286776.1:c.*229T>C, NM_001286775.2:c.*365T>C, NM_001286775.1:c.*365T>C, NR_104590.2:n.797T>C, NR_104590.1:n.832T>C, XM_047430773.1:c.*229T>C, XM_047430774.1:c.*365T>C

Select item 14897780204.

rs1489778020 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 13:102767728 (GRCh38)
13:103420078 (GRCh37)
Canonical SPDI:: NC_000013.11:102767727:C:
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.102767728del, NC_000013.10:g.103420078del

Select item 14894542585.

rs1489454258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:102768177 (GRCh38)
13:103420527 (GRCh37)
Canonical SPDI:: NC_000013.11:102768176:A:T
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102768177A>T, NC_000013.10:g.103420527A>T

Select item 14891360936.

rs1489136093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102775623 (GRCh38)
13:103427973 (GRCh37)
Canonical SPDI:: NC_000013.11:102775622:C:T
Gene:: TEX30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102775623C>T, NC_000013.10:g.103427973C>T

Select item 14890951187.

rs1489095118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:102775598 (GRCh38)
13:103427948 (GRCh37)
Canonical SPDI:: NC_000013.11:102775597:G:T
Gene:: TEX30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102775598G>T, NC_000013.10:g.103427948G>T

Select item 14883171108.

rs1488317110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102769509 (GRCh38)
13:103421859 (GRCh37)
Canonical SPDI:: NC_000013.11:102769508:T:C
Gene:: TEX30 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102769509T>C, NC_000013.10:g.103421859T>C, NM_138779.5:c.48A>G, NM_138779.4:c.48A>G, NM_138779.3:c.48A>G, XM_005254097.4:c.48A>G, XM_005254097.3:c.48A>G, XM_005254097.2:c.48A>G, XM_005254097.1:c.48A>G, XM_017020852.3:c.48A>G, XM_017020852.2:c.48A>G, XM_017020852.1:c.48A>G, XM_024449439.2:c.48A>G, XM_024449439.1:c.48A>G, NM_001286776.2:c.-76A>G, NM_001286776.1:c.-76A>G, NM_001286775.2:c.48A>G, NM_001286775.1:c.48A>G, NR_104590.2:n.138A>G, NR_104590.1:n.173A>G, XM_047430773.1:c.48A>G, XM_047430774.1:c.48A>G

Select item 14879108449.

rs1487910844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:102770154 (GRCh38)
13:103422504 (GRCh37)
Canonical SPDI:: NC_000013.11:102770153:A:T
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000013.11:g.102770154A>T, NC_000013.10:g.103422504A>T

Select item 148790826810.

rs1487908268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102769672 (GRCh38)
13:103422022 (GRCh37)
Canonical SPDI:: NC_000013.11:102769671:T:C
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.102769672T>C, NC_000013.10:g.103422022T>C

Select item 148778299411.

rs1487782994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102771029 (GRCh38)
13:103423379 (GRCh37)
Canonical SPDI:: NC_000013.11:102771028:T:C
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102771029T>C, NC_000013.10:g.103423379T>C

Select item 148775691912.

rs1487756919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102773782 (GRCh38)
13:103426132 (GRCh37)
Canonical SPDI:: NC_000013.11:102773781:C:T
Gene:: TEX30 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102773782C>T, NC_000013.10:g.103426132C>T, NM_138779.5:c.-161G>A, NM_138779.4:c.-161G>A, NM_138779.3:c.-161G>A, XM_005254097.4:c.-362G>A, XM_017020852.3:c.-2320G>A, XM_024449439.2:c.-236G>A, XM_024449439.1:c.-236G>A, NM_001286776.2:c.-209G>A, NM_001286776.1:c.-209G>A, NM_001286775.2:c.-161G>A, NM_001286775.1:c.-161G>A, NR_104590.2:n.5G>A, NR_104590.1:n.40G>A, XM_047430773.1:c.-1976G>A

Select item 148764391613.

rs1487643916 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAGT>- [Show Flanks]
Chromosome:: 13:102771322 (GRCh38)
13:103423672 (GRCh37)
Canonical SPDI:: NC_000013.11:102771317:AAGTCAAAGT:AAGT
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.102771322_102771327del, NC_000013.10:g.103423672_103423677del

Select item 148699890314.

rs1486998903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:102766094 (GRCh38)
13:103418444 (GRCh37)
Canonical SPDI:: NC_000013.11:102766093:A:G
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.102766094A>G, NC_000013.10:g.103418444A>G, NM_138779.5:c.*307T>C, NM_138779.4:c.*307T>C, XM_005254097.4:c.*307T>C, XM_017020852.3:c.*307T>C, XM_011521136.3:c.*307T>C, XM_024449439.2:c.*307T>C, NM_001286776.2:c.*307T>C, NM_001286776.1:c.*307T>C, NM_001286775.2:c.*443T>C, NM_001286775.1:c.*443T>C, NR_104590.2:n.875T>C, NR_104590.1:n.910T>C, XM_047430773.1:c.*307T>C, XM_047430774.1:c.*443T>C

Select item 148697128315.

rs1486971283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:102767175 (GRCh38)
13:103419525 (GRCh37)
Canonical SPDI:: NC_000013.11:102767174:C:T
Gene:: TEX30 (Varview), LOC105370337 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.102767175C>T, NC_000013.10:g.103419525C>T

Select item 148635618716.

rs1486356187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:102771724 (GRCh38)
13:103424074 (GRCh37)
Canonical SPDI:: NC_000013.11:102771723:T:C
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.102771724T>C, NC_000013.10:g.103424074T>C, XM_017020852.3:c.-262A>G, XM_017020852.2:c.-262A>G, XM_017020852.1:c.-262A>G, XM_047430774.1:c.-262A>G

Select item 148623991117.

rs1486239911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:102769983 (GRCh38)
13:103422333 (GRCh37)
Canonical SPDI:: NC_000013.11:102769982:T:A,NC_000013.11:102769982:T:C
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.102769983T>A, NC_000013.11:g.102769983T>C, NC_000013.10:g.103422333T>A, NC_000013.10:g.103422333T>C

Select item 148617654318.

rs1486176543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:102772759 (GRCh38)
13:103425109 (GRCh37)
Canonical SPDI:: NC_000013.11:102772758:G:A
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.102772759G>A, NC_000013.10:g.103425109G>A, XM_017020852.3:c.-1297C>T, XM_047430773.1:c.-953C>T

Select item 148602771619.

rs1486027716 has merged into rs112612448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 13:102772156 (GRCh38)
13:103424506 (GRCh37)
Canonical SPDI:: NC_000013.11:102772143:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:102772143:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:102772143:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:102772143:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:102772143:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: TEX30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.00667/4 (NorthernSweden)
T=0.05/2 (GENOME_DK)
HGVS:: NC_000013.11:g.102772156_102772157del, NC_000013.11:g.102772157del, NC_000013.11:g.102772157dup, NC_000013.11:g.102772156_102772157dup, NC_000013.11:g.102772155_102772157dup, NC_000013.10:g.103424506_103424507del, NC_000013.10:g.103424507del, NC_000013.10:g.103424507dup, NC_000013.10:g.103424506_103424507dup, NC_000013.10:g.103424505_103424507dup, XM_017020852.3:c.-683_-682del, XM_017020852.3:c.-682del, XM_017020852.3:c.-682dup, XM_017020852.3:c.-683_-682dup, XM_017020852.3:c.-684_-682dup, XM_017020852.2:c.-683_-682del, XM_017020852.2:c.-682del, XM_017020852.2:c.-682dup, XM_017020852.2:c.-683_-682dup, XM_017020852.2:c.-684_-682dup, XM_017020852.1:c.-683_-682del, XM_017020852.1:c.-682del, XM_017020852.1:c.-682dup, XM_017020852.1:c.-683_-682dup, XM_017020852.1:c.-684_-682dup, XM_047430773.1:c.-339_-338del, XM_047430773.1:c.-338del, XM_047430773.1:c.-338dup, XM_047430773.1:c.-339_-338dup, XM_047430773.1:c.-340_-338dup

Select item 148594778920.

rs1485947789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:102770790 (GRCh38)
13:103423140 (GRCh37)
Canonical SPDI:: NC_000013.11:102770789:T:A
Gene:: TEX30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000013.11:g.102770790T>A, NC_000013.10:g.103423140T>A

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