SNP Links for Gene (Select 100874027) - SNP

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Select item 14907450471.

rs1490745047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189241562 (GRCh38)
3:188959351 (GRCh37)
Canonical SPDI:: NC_000003.12:189241561:C:T
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000003.12:g.189241562C>T, NC_000003.11:g.188959351C>T

Select item 14907215392.

rs1490721539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTACAA [Show Flanks]
Chromosome:: 3:189240476 (GRCh38)
3:188958266 (GRCh37)
Canonical SPDI:: NC_000003.12:189240476:AA:AATTACAA
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATTACAA=0.000071/1 (ALFA)
AATTAC=0.000223/59 (TOPMED)
AATTAC=0.000314/44 (GnomAD)
HGVS:: NC_000003.12:g.189240478_189240479insTTACAA, NC_000003.11:g.188958267_188958268insTTACAA

Select item 14899271823.

rs1489927182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189242057 (GRCh38)
3:188959846 (GRCh37)
Canonical SPDI:: NC_000003.12:189242056:T:C
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.189242057T>C, NC_000003.11:g.188959846T>C

Select item 14899050114.

rs1489905011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:189240928 (GRCh38)
3:188958717 (GRCh37)
Canonical SPDI:: NC_000003.12:189240927:A:G,NC_000003.12:189240927:A:T
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.189240928A>G, NC_000003.12:g.189240928A>T, NC_000003.11:g.188958717A>G, NC_000003.11:g.188958717A>T

Select item 14890718415.

rs1489071841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189238464 (GRCh38)
3:188956253 (GRCh37)
Canonical SPDI:: NC_000003.12:189238463:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_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_000003.12:g.189238464A>G, NC_000003.11:g.188956253A>G, NG_083224.1:g.88A>G

Select item 14887098336.

rs1488709833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189239061 (GRCh38)
3:188956850 (GRCh37)
Canonical SPDI:: NC_000003.12:189239060:T:C
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: 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_000003.12:g.189239061T>C, NC_000003.11:g.188956850T>C, NG_083224.1:g.685T>C

Select item 14881016897.

rs1488101689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189241039 (GRCh38)
3:188958828 (GRCh37)
Canonical SPDI:: NC_000003.12:189241038:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.189241039A>G, NC_000003.11:g.188958828A>G

Select item 14880556078.

rs1488055607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189242106 (GRCh38)
3:188959895 (GRCh37)
Canonical SPDI:: NC_000003.12:189242105:T:C
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.189242106T>C, NC_000003.11:g.188959895T>C

Select item 14870155819.

rs1487015581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:189238553 (GRCh38)
3:188956342 (GRCh37)
Canonical SPDI:: NC_000003.12:189238552:C:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.189238553C>G, NC_000003.11:g.188956342C>G, NG_083224.1:g.177C>G

Select item 148633523210.

rs1486335232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189238825 (GRCh38)
3:188956614 (GRCh37)
Canonical SPDI:: NC_000003.12:189238824:G:A
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.189238825G>A, NC_000003.11:g.188956614G>A, NG_083224.1:g.449G>A, XM_005247382.6:c.419G>A, XM_005247382.5:c.419G>A, XM_005247382.4:c.419G>A, XM_005247382.3:c.419G>A, XM_005247382.2:c.419G>A, XM_005247382.1:c.419G>A, NM_198485.4:c.395G>A, NM_198485.3:c.395G>A, XM_011512734.4:c.419G>A, XM_011512734.3:c.419G>A, XM_011512734.2:c.419G>A, XM_011512734.1:c.419G>A, XM_011512732.3:c.455G>A, XM_011512732.2:c.455G>A, XM_011512732.1:c.395G>A, XM_024453477.2:c.455G>A, XM_024453477.1:c.455G>A, XM_047448038.1:c.455G>A, XM_047448029.1:c.455G>A, XM_047448028.1:c.455G>A, XM_047448039.1:c.455G>A, XM_047448037.1:c.455G>A, XM_047448031.1:c.455G>A, XM_047448035.1:c.455G>A, XM_047448040.1:c.455G>A, XM_047448033.1:c.455G>A, XM_047448032.1:c.455G>A, XM_047448034.1:c.455G>A, XM_047448036.1:c.455G>A, XM_047448030.1:c.455G>A, XM_047448041.1:c.455G>A, XM_047448042.1:c.137G>A, XM_017006263.1:c.137G>A, NR_046722.1:n.340C>T, XP_005247439.1:p.Cys140Tyr, NP_940887.1:p.Cys132Tyr, XP_011511036.1:p.Cys140Tyr, XP_011511034.2:p.Cys152Tyr, XP_024309245.1:p.Cys152Tyr, XP_047303994.1:p.Cys152Tyr, XP_047303985.1:p.Cys152Tyr, XP_047303984.1:p.Cys152Tyr, XP_047303995.1:p.Cys152Tyr, XP_047303993.1:p.Cys152Tyr, XP_047303987.1:p.Cys152Tyr, XP_047303991.1:p.Cys152Tyr, XP_047303996.1:p.Cys152Tyr, XP_047303989.1:p.Cys152Tyr, XP_047303988.1:p.Cys152Tyr, XP_047303990.1:p.Cys152Tyr, XP_047303992.1:p.Cys152Tyr, XP_047303986.1:p.Cys152Tyr, XP_047303997.1:p.Cys152Tyr, XP_047303998.1:p.Cys46Tyr, XP_016861752.1:p.Cys46Tyr

Select item 148579223511.

rs1485792235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189242082 (GRCh38)
3:188959871 (GRCh37)
Canonical SPDI:: NC_000003.12:189242081:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.189242082A>G, NC_000003.11:g.188959871A>G

Select item 148511839512.

rs1485118395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189238566 (GRCh38)
3:188956355 (GRCh37)
Canonical SPDI:: NC_000003.12:189238565:G:A
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.189238566G>A, NC_000003.11:g.188956355G>A, NG_083224.1:g.190G>A

Select item 148484978913.

rs1484849789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189238454 (GRCh38)
3:188956243 (GRCh37)
Canonical SPDI:: NC_000003.12:189238453:C:T
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (Korea1K)
T=0.000007/1 (GnomAD)
T=0.000064/17 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.189238454C>T, NC_000003.11:g.188956243C>T, NG_083224.1:g.78C>T

Select item 148364439114.

rs1483644391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:189241810 (GRCh38)
3:188959599 (GRCh37)
Canonical SPDI:: NC_000003.12:189241809:T:C,NC_000003.12:189241809:T:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_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)
C=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.189241810T>C, NC_000003.12:g.189241810T>G, NC_000003.11:g.188959599T>C, NC_000003.11:g.188959599T>G

Select item 148314792615.

rs1483147926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189241444 (GRCh38)
3:188959233 (GRCh37)
Canonical SPDI:: NC_000003.12:189241443:G:A
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: intron_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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189241444G>A, NC_000003.11:g.188959233G>A

Select item 148170809716.

rs1481708097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:189241957 (GRCh38)
3:188959746 (GRCh37)
Canonical SPDI:: NC_000003.12:189241956:G:A,NC_000003.12:189241956:G:C
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,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_000003.12:g.189241957G>A, NC_000003.12:g.189241957G>C, NC_000003.11:g.188959746G>A, NC_000003.11:g.188959746G>C

Select item 148013517317.

rs1480135173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189239072 (GRCh38)
3:188956861 (GRCh37)
Canonical SPDI:: NC_000003.12:189239071:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189239072A>G, NC_000003.11:g.188956861A>G, NG_083224.1:g.696A>G

Select item 147871109518.

rs1478711095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189239502 (GRCh38)
3:188957291 (GRCh37)
Canonical SPDI:: NC_000003.12:189239501:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: genic_downstream_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_000003.12:g.189239502A>G, NC_000003.11:g.188957291A>G, NG_083224.1:g.1126A>G

Select item 147819104319.

rs1478191043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189239136 (GRCh38)
3:188956925 (GRCh37)
Canonical SPDI:: NC_000003.12:189239135:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000212/4 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.189239136A>G, NC_000003.11:g.188956925A>G, NG_083224.1:g.760A>G

Select item 147692765820.

rs1476927658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189239045 (GRCh38)
3:188956834 (GRCh37)
Canonical SPDI:: NC_000003.12:189239044:A:G
Gene:: TPRG1 (Varview), TPRG1-AS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.189239045A>G, NC_000003.11:g.188956834A>G, NG_083224.1:g.669A>G

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