SNP Links for Gene (Select 100129520) - SNP

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Items: 1 to 20 of 1784

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Select item 14905869941.

rs1490586994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125322531 (GRCh38)
X:124456380 (GRCh37)
Canonical SPDI:: NC_000023.11:125322530:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.125322531G>A, NC_000023.10:g.124456380G>A, NM_001195272.2:c.2412G>A, NM_001195272.1:c.2412G>A

Select item 14900964072.

rs1490096407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:125322113 (GRCh38)
X:124455962 (GRCh37)
Canonical SPDI:: NC_000023.11:125322112:A:G
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.125322113A>G, NC_000023.10:g.124455962A>G, NM_001195272.2:c.1994A>G, NM_001195272.1:c.1994A>G, NP_001182201.1:p.Asp665Gly

Select item 14883699423.

rs1488369942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125319399 (GRCh38)
X:124453248 (GRCh37)
Canonical SPDI:: NC_000023.11:125319398:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.125319399G>A, NC_000023.10:g.124453248G>A

Select item 14870887374.

rs1487088737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:125318227 (GRCh38)
X:124452076 (GRCh37)
Canonical SPDI:: NC_000023.11:125318226:T:C
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.125318227T>C, NC_000023.10:g.124452076T>C

Select item 14870384075.

rs1487038407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:125319041 (GRCh38)
X:124452890 (GRCh37)
Canonical SPDI:: NC_000023.11:125319040:C:T
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.125319041C>T, NC_000023.10:g.124452890C>T

Select item 14869948836.

rs1486994883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125321740 (GRCh38)
X:124455589 (GRCh37)
Canonical SPDI:: NC_000023.11:125321739:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.125321740G>A, NC_000023.10:g.124455589G>A, NM_001195272.2:c.1621G>A, NM_001195272.1:c.1621G>A, NP_001182201.1:p.Asp541Asn

Select item 14867242707.

rs1486724270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125320265 (GRCh38)
X:124454114 (GRCh37)
Canonical SPDI:: NC_000023.11:125320264:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000047/5 (GnomAD)
HGVS:: NC_000023.11:g.125320265G>A, NC_000023.10:g.124454114G>A, NM_001195272.2:c.146G>A, NM_001195272.1:c.146G>A, NP_001182201.1:p.Arg49Gln

Select item 14866211728.

rs1486621172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:125318793 (GRCh38)
X:124452642 (GRCh37)
Canonical SPDI:: NC_000023.11:125318792:A:T
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.125318793A>T, NC_000023.10:g.124452642A>T

Select item 14863635349.

rs1486363534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:125320867 (GRCh38)
X:124454716 (GRCh37)
Canonical SPDI:: NC_000023.11:125320866:C:T
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.125320867C>T, NC_000023.10:g.124454716C>T, NM_001195272.2:c.748C>T, NM_001195272.1:c.748C>T, NP_001182201.1:p.Pro250Ser

Select item 148541091210.

rs1485410912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:125320282 (GRCh38)
X:124454131 (GRCh37)
Canonical SPDI:: NC_000023.11:125320281:G:A,NC_000023.11:125320281:G:T
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.125320282G>A, NC_000023.11:g.125320282G>T, NC_000023.10:g.124454131G>A, NC_000023.10:g.124454131G>T, NM_001195272.2:c.163G>A, NM_001195272.2:c.163G>T, NM_001195272.1:c.163G>A, NM_001195272.1:c.163G>T, NP_001182201.1:p.Ala55Thr, NP_001182201.1:p.Ala55Ser

Select item 148537822211.

rs1485378222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:125321432 (GRCh38)
X:124455281 (GRCh37)
Canonical SPDI:: NC_000023.11:125321431:A:G
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00086/14 (ALFA)
G=0.00007/7 (GnomAD)
G=0.00283/36 (TOMMO)
G=0.00479/23 (1000Genomes)
G=0.0219/64 (KOREAN)
HGVS:: NC_000023.11:g.125321432A>G, NC_000023.10:g.124455281A>G, NM_001195272.2:c.1313A>G, NM_001195272.1:c.1313A>G, NP_001182201.1:p.Asn438Ser

Select item 148533425312.

rs1485334253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:125325416 (GRCh38)
X:124459265 (GRCh37)
Canonical SPDI:: NC_000023.11:125325415:C:T
Gene:: TEX13C (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000049/5 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000023.11:g.125325416C>T, NC_000023.10:g.124459265C>T

Select item 148521173713.

rs1485211737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125318983 (GRCh38)
X:124452832 (GRCh37)
Canonical SPDI:: NC_000023.11:125318982:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000029/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.125318983G>A, NC_000023.10:g.124452832G>A

Select item 148515602714.

rs1485156027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:125321691 (GRCh38)
X:124455540 (GRCh37)
Canonical SPDI:: NC_000023.11:125321690:C:G,NC_000023.11:125321690:C:T
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.00049/6 (TOMMO)
HGVS:: NC_000023.11:g.125321691C>G, NC_000023.11:g.125321691C>T, NC_000023.10:g.124455540C>G, NC_000023.10:g.124455540C>T, NM_001195272.2:c.1572C>G, NM_001195272.2:c.1572C>T, NM_001195272.1:c.1572C>G, NM_001195272.1:c.1572C>T, NP_001182201.1:p.His524Gln

Select item 148510241815.

rs1485102418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125318181 (GRCh38)
X:124452030 (GRCh37)
Canonical SPDI:: NC_000023.11:125318180:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000198/3 (ALFA)
A=0.000068/7 (GnomAD)
HGVS:: NC_000023.11:g.125318181G>A, NC_000023.10:g.124452030G>A

Select item 148498442316.

rs1484984423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:125321820 (GRCh38)
X:124455669 (GRCh37)
Canonical SPDI:: NC_000023.11:125321819:C:T
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.125321820C>T, NC_000023.10:g.124455669C>T, NM_001195272.2:c.1701C>T, NM_001195272.1:c.1701C>T

Select item 148483278217.

rs1484832782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:125321286 (GRCh38)
X:124455135 (GRCh37)
Canonical SPDI:: NC_000023.11:125321285:T:G
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00043/7 (ALFA)
G=0.00003/2 (GnomAD)
G=0.00364/47 (TOMMO)
G=0.01369/40 (KOREAN)
HGVS:: NC_000023.11:g.125321286T>G, NC_000023.10:g.124455135T>G, NM_001195272.2:c.1167T>G, NM_001195272.1:c.1167T>G, NP_001182201.1:p.Ile389Met

Select item 148475117218.

rs1484751172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:125324911 (GRCh38)
X:124458760 (GRCh37)
Canonical SPDI:: NC_000023.11:125324910:T:C
Gene:: TEX13C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.125324911T>C, NC_000023.10:g.124458760T>C, NM_001195272.2:c.*1231T>C

Select item 148459808919.

rs1484598089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:125322816 (GRCh38)
X:124456665 (GRCh37)
Canonical SPDI:: NC_000023.11:125322815:C:G
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.125322816C>G, NC_000023.10:g.124456665C>G, NM_001195272.2:c.2697C>G, NM_001195272.1:c.2697C>G, NP_001182201.1:p.Ser899Arg

Select item 148442649220.

rs1484426492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:125320716 (GRCh38)
X:124454565 (GRCh37)
Canonical SPDI:: NC_000023.11:125320715:G:A
Gene:: TEX13C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.125320716G>A, NC_000023.10:g.124454565G>A, NM_001195272.2:c.597G>A, NM_001195272.1:c.597G>A

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