SNP Links for Gene (Select 286262) - SNP

Links from Gene

Items: 1 to 20 of 3408

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Select item 14907836951.

rs1490783695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137191758 (GRCh38)
9:140086210 (GRCh37)
Canonical SPDI:: NC_000009.12:137191757:C:T
Gene:: TPRN (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=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137191758C>T, NC_000009.11:g.140086210C>T, NG_027801.2:g.17436G>A, NM_001128228.3:c.*354G>A, NM_001128228.2:c.*354G>A, NM_173691.3:c.*354G>A, NM_173691.2:c.*354G>A, NM_173691.1:c.*354G>A

Select item 14904579222.

rs1490457922 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGGGGAG [Show Flanks]
Chromosome:: 9:137195709 (GRCh38)
9:140090162 (GRCh37)
Canonical SPDI:: NC_000009.12:137195709:GAGGGGAGGAGGGGAG:GAGGGGAGGAGGGGAGGAGGGGAG
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGGGAGGAGGGGAGGAGGGGAG=0.000422/5 (ALFA)
GAGGGGAG=0.000121/17 (GnomAD)
HGVS:: NC_000009.12:g.137195710GAGGGGAG[3], NC_000009.11:g.140090162GAGGGGAG[3], NG_027801.2:g.13469CTCCCCTC[3]

Select item 14900887473.

rs1490088747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137197583 (GRCh38)
9:140092035 (GRCh37)
Canonical SPDI:: NC_000009.12:137197582:G:A
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137197583G>A, NC_000009.11:g.140092035G>A, NG_027801.2:g.11611C>T

Select item 14900196704.

rs1490019670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:137198670 (GRCh38)
9:140093122 (GRCh37)
Canonical SPDI:: NC_000009.12:137198669:C:G
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137198670C>G, NC_000009.11:g.140093122C>G, NG_027801.2:g.10524G>C

Select item 14898231155.

rs1489823115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:137202648 (GRCh38)
9:140097100 (GRCh37)
Canonical SPDI:: NC_000009.12:137202647:C:G
Gene:: TPRN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.137202648C>G, NC_000009.11:g.140097100C>G, NG_027801.2:g.6546G>C

Select item 14894498746.

rs1489449874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137200060 (GRCh38)
9:140094512 (GRCh37)
Canonical SPDI:: NC_000009.12:137200059:C:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200060C>A, NC_000009.11:g.140094512C>A, NG_027801.2:g.9134G>T, NM_001128228.3:c.652G>T, NM_001128228.2:c.652G>T, NM_173691.3:c.469G>T, NM_173691.2:c.-266G>T, NM_173691.1:c.-266G>T, NP_001121700.2:p.Ala218Ser

Select item 14889896927.

rs1488989692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137201263 (GRCh38)
9:140095715 (GRCh37)
Canonical SPDI:: NC_000009.12:137201262:C:T
Gene:: TPRN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.137201263C>T, NC_000009.11:g.140095715C>T, NG_027801.2:g.7931G>A

Select item 14888719068.

rs1488871906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:137202196 (GRCh38)
9:140096648 (GRCh37)
Canonical SPDI:: NC_000009.12:137202195:G:C
Gene:: TPRN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137202196G>C, NC_000009.11:g.140096648G>C, NG_027801.2:g.6998C>G

Select item 14888177939.

rs1488817793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137201399 (GRCh38)
9:140095851 (GRCh37)
Canonical SPDI:: NC_000009.12:137201398:C:T
Gene:: TPRN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.137201399C>T, NC_000009.11:g.140095851C>T, NG_027801.2:g.7795G>A

Select item 148873889110.

rs1488738891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:137195386 (GRCh38)
9:140089838 (GRCh37)
Canonical SPDI:: NC_000009.12:137195385:A:C
Gene:: TPRN (Varview)
Functional Consequence:: intron_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_000009.12:g.137195386A>C, NC_000009.11:g.140089838A>C, NG_027801.2:g.13808T>G

Select item 148838556411.

rs1488385564 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:137195914 (GRCh38)
9:140090366 (GRCh37)
Canonical SPDI:: NC_000009.12:137195913:CCC:CC
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137195916del, NC_000009.11:g.140090368del, NG_027801.2:g.13280del

Select item 148809959212.

rs1488099592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:137199300 (GRCh38)
9:140093752 (GRCh37)
Canonical SPDI:: NC_000009.12:137199299:T:G
Gene:: TPRN (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_000009.12:g.137199300T>G, NC_000009.11:g.140093752T>G, NG_027801.2:g.9894A>C, NM_001128228.3:c.1412A>C, NM_001128228.2:c.1412A>C, NM_173691.3:c.1229A>C, NM_173691.2:c.494A>C, NM_173691.1:c.494A>C, NP_001121700.2:p.Lys471Thr

Select item 148805820013.

rs1488058200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137200080 (GRCh38)
9:140094532 (GRCh37)
Canonical SPDI:: NC_000009.12:137200079:C:A
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000109/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200080C>A, NC_000009.11:g.140094532C>A, NG_027801.2:g.9114G>T, NM_001128228.3:c.632G>T, NM_001128228.2:c.632G>T, NM_173691.3:c.449G>T, NM_173691.2:c.-286G>T, NM_173691.1:c.-286G>T, NP_001121700.2:p.Gly211Val

Select item 148791722314.

rs1487917223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:137194676 (GRCh38)
9:140089128 (GRCh37)
Canonical SPDI:: NC_000009.12:137194675:C:G
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137194676C>G, NC_000009.11:g.140089128C>G, NG_027801.2:g.14518G>C

Select item 148788715615.

rs1487887156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137201889 (GRCh38)
9:140096341 (GRCh37)
Canonical SPDI:: NC_000009.12:137201888:C:T
Gene:: TPRN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137201889C>T, NC_000009.11:g.140096341C>T, NG_027801.2:g.7305G>A

Select item 148772181716.

rs1487721817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137192143 (GRCh38)
9:140086595 (GRCh37)
Canonical SPDI:: NC_000009.12:137192142:T:C
Gene:: TPRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137192143T>C, NC_000009.11:g.140086595T>C, NG_027801.2:g.17051A>G, NM_001128228.3:c.2105A>G, NM_001128228.2:c.2105A>G, NM_173691.3:c.2006A>G, NM_173691.2:c.1271A>G, NM_173691.1:c.1271A>G, NP_001121700.2:p.Asp702Gly

Select item 148707772417.

rs1487077724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137200671 (GRCh38)
9:140095123 (GRCh37)
Canonical SPDI:: NC_000009.12:137200670:G:A
Gene:: TPRN (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=0.000038/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137200671G>A, NC_000009.11:g.140095123G>A, NG_027801.2:g.8523C>T, NM_001128228.3:c.41C>T, NM_001128228.2:c.41C>T, NP_001121700.2:p.Ala14Val

Select item 148653393718.

rs1486533937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137191476 (GRCh38)
9:140085928 (GRCh37)
Canonical SPDI:: NC_000009.12:137191475:G:A
Gene:: TPRN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137191476G>A, NC_000009.11:g.140085928G>A, NG_027801.2:g.17718C>T

Select item 148636175719.

rs1486361757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137194437 (GRCh38)
9:140088889 (GRCh37)
Canonical SPDI:: NC_000009.12:137194436:A:G
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137194437A>G, NC_000009.11:g.140088889A>G, NG_027801.2:g.14757T>C

Select item 148613823720.

rs1486138237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:137198961 (GRCh38)
9:140093413 (GRCh37)
Canonical SPDI:: NC_000009.12:137198960:C:G,NC_000009.12:137198960:C:T
Gene:: TPRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00011/2 (TOMMO)
HGVS:: NC_000009.12:g.137198961C>G, NC_000009.12:g.137198961C>T, NC_000009.11:g.140093413C>G, NC_000009.11:g.140093413C>T, NG_027801.2:g.10233G>C, NG_027801.2:g.10233G>A

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