SNP Links for Gene (Select 8557) - SNP

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Select item 14906369691.

rs1490636969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:39666149 (GRCh38)
17:37822402 (GRCh37)
Canonical SPDI:: NC_000017.11:39666148:C:G,NC_000017.11:39666148:C:T
Gene:: PNMT (Varview), TCAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39666149C>G, NC_000017.11:g.39666149C>T, NC_000017.10:g.37822402C>G, NC_000017.10:g.37822402C>T, NG_042278.1:g.3169C>G, NG_042278.1:g.3169C>T, NG_008892.1:g.5804C>G, NG_008892.1:g.5804C>T, NM_003673.4:c.*40C>G, NM_003673.4:c.*40C>T, NM_003673.3:c.*40C>G, NM_003673.3:c.*40C>T

Select item 14890805162.

rs1489080516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39664770 (GRCh38)
17:37821023 (GRCh37)
Canonical SPDI:: NC_000017.11:39664769:C:T
Gene:: TCAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39664770C>T, NC_000017.10:g.37821023C>T, NG_042278.1:g.1790C>T, NG_008892.1:g.4425C>T

Select item 14882419943.

rs1488241994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39666982 (GRCh38)
17:37823235 (GRCh37)
Canonical SPDI:: NC_000017.11:39666981:G:A
Gene:: PNMT (Varview), TCAP (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39666982G>A, NC_000017.10:g.37823235G>A, NG_042278.1:g.4002G>A, NG_008892.1:g.6637G>A

Select item 14881015884.

rs1488101588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39663858 (GRCh38)
17:37820111 (GRCh37)
Canonical SPDI:: NC_000017.11:39663857:T:C
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.39663858T>C, NC_000017.10:g.37820111T>C, NG_042278.1:g.878T>C, NG_008892.1:g.3513T>C, NM_006804.4:c.*950T>C, NM_006804.3:c.*950T>C, XM_017024041.3:c.*950T>C, XM_017024041.2:c.*950T>C, XM_017024041.1:c.*950T>C, NM_001165937.2:c.*950T>C, NM_001165937.1:c.*950T>C, NM_001165938.2:c.*950T>C, NM_001165938.1:c.*950T>C, XM_047435162.1:c.*805T>C, XM_047435165.1:c.*950T>C, XM_047435159.1:c.*805T>C, XM_047435160.1:c.*805T>C, XM_047435163.1:c.*805T>C, XM_047435164.1:c.*805T>C, XM_047435166.1:c.*950T>C, XM_047435167.1:c.*950T>C

Select item 14880408955.

rs1488040895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39663661 (GRCh38)
17:37819914 (GRCh37)
Canonical SPDI:: NC_000017.11:39663660:T:C
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.00076/13 (TOMMO)
HGVS:: NC_000017.11:g.39663661T>C, NC_000017.10:g.37819914T>C, NG_042278.1:g.681T>C, NG_008892.1:g.3316T>C, NM_006804.4:c.*753T>C, NM_006804.3:c.*753T>C, XM_017024041.3:c.*753T>C, XM_017024041.2:c.*753T>C, XM_017024041.1:c.*753T>C, NM_001165937.2:c.*753T>C, NM_001165937.1:c.*753T>C, NM_001165938.2:c.*753T>C, NM_001165938.1:c.*753T>C, XM_047435162.1:c.*608T>C, XM_047435165.1:c.*753T>C, XM_047435159.1:c.*608T>C, XM_047435160.1:c.*608T>C, XM_047435163.1:c.*608T>C, XM_047435164.1:c.*608T>C, XM_047435166.1:c.*753T>C, XM_047435167.1:c.*753T>C

Select item 14879970436.

rs1487997043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39664591 (GRCh38)
17:37820844 (GRCh37)
Canonical SPDI:: NC_000017.11:39664590:G:A
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39664591G>A, NC_000017.10:g.37820844G>A, NG_042278.1:g.1611G>A, NG_008892.1:g.4246G>A

Select item 14866093687.

rs1486609368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:39666748 (GRCh38)
17:37823001 (GRCh37)
Canonical SPDI:: NC_000017.11:39666747:C:G,NC_000017.11:39666747:C:T
Gene:: PNMT (Varview), TCAP (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.39666748C>G, NC_000017.11:g.39666748C>T, NC_000017.10:g.37823001C>G, NC_000017.10:g.37823001C>T, NG_042278.1:g.3768C>G, NG_042278.1:g.3768C>T, NG_008892.1:g.6403C>G, NG_008892.1:g.6403C>T

Select item 14864550918.

rs1486455091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39664233 (GRCh38)
17:37820486 (GRCh37)
Canonical SPDI:: NC_000017.11:39664232:C:G
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39664233C>G, NC_000017.10:g.37820486C>G, NG_042278.1:g.1253C>G, NG_008892.1:g.3888C>G

Select item 14848256659.

rs1484825665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39663854 (GRCh38)
17:37820107 (GRCh37)
Canonical SPDI:: NC_000017.11:39663853:C:T
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39663854C>T, NC_000017.10:g.37820107C>T, NG_042278.1:g.874C>T, NG_008892.1:g.3509C>T, NM_006804.4:c.*946C>T, NM_006804.3:c.*946C>T, XM_017024041.3:c.*946C>T, XM_017024041.2:c.*946C>T, XM_017024041.1:c.*946C>T, NM_001165937.2:c.*946C>T, NM_001165937.1:c.*946C>T, NM_001165938.2:c.*946C>T, NM_001165938.1:c.*946C>T, XM_047435162.1:c.*801C>T, XM_047435165.1:c.*946C>T, XM_047435159.1:c.*801C>T, XM_047435160.1:c.*801C>T, XM_047435163.1:c.*801C>T, XM_047435164.1:c.*801C>T, XM_047435166.1:c.*946C>T, XM_047435167.1:c.*946C>T

Select item 148482076710.

rs1484820767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:39664583 (GRCh38)
17:37820836 (GRCh37)
Canonical SPDI:: NC_000017.11:39664582:C:A,NC_000017.11:39664582:C:T
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39664583C>A, NC_000017.11:g.39664583C>T, NC_000017.10:g.37820836C>A, NC_000017.10:g.37820836C>T, NG_042278.1:g.1603C>A, NG_042278.1:g.1603C>T, NG_008892.1:g.4238C>A, NG_008892.1:g.4238C>T

Select item 148428697111.

rs1484286971 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCCCTGCA [Show Flanks]
Chromosome:: 17:39665470 (GRCh38)
17:37821724 (GRCh37)
Canonical SPDI:: NC_000017.11:39665470::CTCCCTGCA
Gene:: TCAP (Varview)
Functional Consequence:: splice_donor_variant
HGVS:: NC_000017.11:g.39665470_39665471insCTCCCTGCA, NC_000017.10:g.37821723_37821724insCTCCCTGCA, NG_042278.1:g.2490_2491insCTCCCTGCA, NG_008892.1:g.5125_5126insCTCCCTGCA

Select item 148312620112.

rs1483126201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39664142 (GRCh38)
17:37820395 (GRCh37)
Canonical SPDI:: NC_000017.11:39664141:T:C
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_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_000017.11:g.39664142T>C, NC_000017.10:g.37820395T>C, NG_042278.1:g.1162T>C, NG_008892.1:g.3797T>C, NM_006804.4:c.*1234T>C, NM_006804.3:c.*1234T>C, XM_017024041.3:c.*1234T>C, XM_017024041.2:c.*1234T>C, XM_017024041.1:c.*1234T>C, NM_001165937.2:c.*1234T>C, NM_001165937.1:c.*1234T>C, NM_001165938.2:c.*1234T>C, NM_001165938.1:c.*1234T>C, XM_047435162.1:c.*1089T>C, XM_047435165.1:c.*1234T>C, XM_047435159.1:c.*1089T>C, XM_047435160.1:c.*1089T>C, XM_047435163.1:c.*1089T>C, XM_047435164.1:c.*1089T>C, XM_047435166.1:c.*1234T>C, XM_047435167.1:c.*1234T>C

Select item 148243082513.

rs1482430825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39666638 (GRCh38)
17:37822891 (GRCh37)
Canonical SPDI:: NC_000017.11:39666637:G:A
Gene:: PNMT (Varview), TCAP (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.39666638G>A, NC_000017.10:g.37822891G>A, NG_042278.1:g.3658G>A, NG_008892.1:g.6293G>A

Select item 148108296814.

rs1481082968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:39666073 (GRCh38)
17:37822326 (GRCh37)
Canonical SPDI:: NC_000017.11:39666072:G:A,NC_000017.11:39666072:G:C
Gene:: PNMT (Varview), TCAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39666073G>A, NC_000017.11:g.39666073G>C, NC_000017.10:g.37822326G>A, NC_000017.10:g.37822326G>C, NG_042278.1:g.3093G>A, NG_042278.1:g.3093G>C, NG_008892.1:g.5728G>A, NG_008892.1:g.5728G>C, NM_003673.4:c.468G>A, NM_003673.4:c.468G>C, NM_003673.3:c.468G>A, NM_003673.3:c.468G>C

Select item 148010997415.

rs1480109974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39665809 (GRCh38)
17:37822062 (GRCh37)
Canonical SPDI:: NC_000017.11:39665808:G:A
Gene:: TCAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.39665809G>A, NC_000017.10:g.37822062G>A, NG_042278.1:g.2829G>A, NG_008892.1:g.5464G>A, NM_003673.4:c.204G>A, NM_003673.3:c.204G>A, NP_003664.1:p.Met68Ile

Select item 148007201916.

rs1480072019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:39663365 (GRCh38)
17:37819618 (GRCh37)
Canonical SPDI:: NC_000017.11:39663364:G:A,NC_000017.11:39663364:G:C,NC_000017.11:39663364:G:T
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.39663365G>A, NC_000017.11:g.39663365G>C, NC_000017.11:g.39663365G>T, NC_000017.10:g.37819618G>A, NC_000017.10:g.37819618G>C, NC_000017.10:g.37819618G>T, NG_042278.1:g.385G>A, NG_042278.1:g.385G>C, NG_042278.1:g.385G>T, NG_008892.1:g.3020G>A, NG_008892.1:g.3020G>C, NG_008892.1:g.3020G>T, NM_006804.4:c.*457G>A, NM_006804.4:c.*457G>C, NM_006804.4:c.*457G>T, NM_006804.3:c.*457G>A, NM_006804.3:c.*457G>C, NM_006804.3:c.*457G>T, XM_017024041.3:c.*457G>A, XM_017024041.3:c.*457G>C, XM_017024041.3:c.*457G>T, XM_017024041.2:c.*457G>A, XM_017024041.2:c.*457G>C, XM_017024041.2:c.*457G>T, XM_017024041.1:c.*457G>A, XM_017024041.1:c.*457G>C, XM_017024041.1:c.*457G>T, NM_001165937.2:c.*457G>A, NM_001165937.2:c.*457G>C, NM_001165937.2:c.*457G>T, NM_001165937.1:c.*457G>A, NM_001165937.1:c.*457G>C, NM_001165937.1:c.*457G>T, NM_001165938.2:c.*457G>A, NM_001165938.2:c.*457G>C, NM_001165938.2:c.*457G>T, NM_001165938.1:c.*457G>A, NM_001165938.1:c.*457G>C, NM_001165938.1:c.*457G>T, XM_047435162.1:c.*312G>A, XM_047435162.1:c.*312G>C, XM_047435162.1:c.*312G>T, XM_047435165.1:c.*457G>A, XM_047435165.1:c.*457G>C, XM_047435165.1:c.*457G>T, XM_047435159.1:c.*312G>A, XM_047435159.1:c.*312G>C, XM_047435159.1:c.*312G>T, XM_047435160.1:c.*312G>A, XM_047435160.1:c.*312G>C, XM_047435160.1:c.*312G>T, XM_047435163.1:c.*312G>A, XM_047435163.1:c.*312G>C, XM_047435163.1:c.*312G>T, XM_047435164.1:c.*312G>A, XM_047435164.1:c.*312G>C, XM_047435164.1:c.*312G>T, XM_047435166.1:c.*457G>A, XM_047435166.1:c.*457G>C, XM_047435166.1:c.*457G>T, XM_047435167.1:c.*457G>A, XM_047435167.1:c.*457G>C, XM_047435167.1:c.*457G>T

Select item 147896708017.

rs1478967080 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGAGCCCG>- [Show Flanks]
Chromosome:: 17:39663593 (GRCh38)
17:37819846 (GRCh37)
Canonical SPDI:: NC_000017.11:39663591:GCGGAGCCCG:G
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39663593_39663601del, NC_000017.10:g.37819846_37819854del, NG_042278.1:g.613_621del, NG_008892.1:g.3248_3256del, NM_006804.4:c.*685_*693del, NM_006804.3:c.*685_*693del, XM_017024041.3:c.*685_*693del, XM_017024041.2:c.*685_*693del, XM_017024041.1:c.*685_*693del, NM_001165937.2:c.*685_*693del, NM_001165937.1:c.*685_*693del, NM_001165938.2:c.*685_*693del, NM_001165938.1:c.*685_*693del, XM_047435162.1:c.*540_*548del, XM_047435165.1:c.*685_*693del, XM_047435159.1:c.*540_*548del, XM_047435160.1:c.*540_*548del, XM_047435163.1:c.*540_*548del, XM_047435164.1:c.*540_*548del, XM_047435166.1:c.*685_*693del, XM_047435167.1:c.*685_*693del

Select item 147856002218.

rs1478560022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39664535 (GRCh38)
17:37820788 (GRCh37)
Canonical SPDI:: NC_000017.11:39664534:G:A
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.39664535G>A, NC_000017.10:g.37820788G>A, NG_042278.1:g.1555G>A, NG_008892.1:g.4190G>A

Select item 147825941619.

rs1478259416 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:39665345 (GRCh38)
17:37821598 (GRCh37)
Canonical SPDI:: NC_000017.11:39665338:GAGAGAGA:GAGAGA
Gene:: TCAP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39665339GA[3], NC_000017.10:g.37821592GA[3], NG_042278.1:g.2359GA[3], NG_008892.1:g.4994GA[3]

Select item 147751189720.

rs1477511897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:39663640 (GRCh38)
17:37819893 (GRCh37)
Canonical SPDI:: NC_000017.11:39663639:C:G,NC_000017.11:39663639:C:T
Gene:: TCAP (Varview), STARD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/4 (GnomAD)
HGVS:: NC_000017.11:g.39663640C>G, NC_000017.11:g.39663640C>T, NC_000017.10:g.37819893C>G, NC_000017.10:g.37819893C>T, NG_042278.1:g.660C>G, NG_042278.1:g.660C>T, NG_008892.1:g.3295C>G, NG_008892.1:g.3295C>T, NM_006804.4:c.*732C>G, NM_006804.4:c.*732C>T, NM_006804.3:c.*732C>G, NM_006804.3:c.*732C>T, XM_017024041.3:c.*732C>G, XM_017024041.3:c.*732C>T, XM_017024041.2:c.*732C>G, XM_017024041.2:c.*732C>T, XM_017024041.1:c.*732C>G, XM_017024041.1:c.*732C>T, NM_001165937.2:c.*732C>G, NM_001165937.2:c.*732C>T, NM_001165937.1:c.*732C>G, NM_001165937.1:c.*732C>T, NM_001165938.2:c.*732C>G, NM_001165938.2:c.*732C>T, NM_001165938.1:c.*732C>G, NM_001165938.1:c.*732C>T, XM_047435162.1:c.*587C>G, XM_047435162.1:c.*587C>T, XM_047435165.1:c.*732C>G, XM_047435165.1:c.*732C>T, XM_047435159.1:c.*587C>G, XM_047435159.1:c.*587C>T, XM_047435160.1:c.*587C>G, XM_047435160.1:c.*587C>T, XM_047435163.1:c.*587C>G, XM_047435163.1:c.*587C>T, XM_047435164.1:c.*587C>G, XM_047435164.1:c.*587C>T, XM_047435166.1:c.*732C>G, XM_047435166.1:c.*732C>T, XM_047435167.1:c.*732C>G, XM_047435167.1:c.*732C>T

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