SNP Links for Gene (Select 171558) - SNP

Links from Gene

Items: 1 to 20 of 3220

<< First< Prev

Page of 161

Next >Last >>

Select item 14915696511.

rs1491569651 has merged into rs371462556 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:42921748 (GRCh38)
6:42889486 (GRCh37)
Canonical SPDI:: NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PTCRA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0361/19 (NorthernSweden)
HGVS:: NC_000006.12:g.42921748_42921751del, NC_000006.12:g.42921749_42921751del, NC_000006.12:g.42921750_42921751del, NC_000006.12:g.42921751del, NC_000006.12:g.42921751dup, NC_000006.12:g.42921750_42921751dup, NC_000006.11:g.42889486_42889489del, NC_000006.11:g.42889487_42889489del, NC_000006.11:g.42889488_42889489del, NC_000006.11:g.42889489del, NC_000006.11:g.42889489dup, NC_000006.11:g.42889488_42889489dup, NG_029636.1:g.10760_10763del, NG_029636.1:g.10761_10763del, NG_029636.1:g.10762_10763del, NG_029636.1:g.10763del, NG_029636.1:g.10763dup, NG_029636.1:g.10762_10763dup

Select item 14914265312.

rs1491426531 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,TA,TAA [Show Flanks]
Chromosome:: 6:42921732 (GRCh38)
6:42889471 (GRCh37)
Canonical SPDI:: NC_000006.12:42921732::A,NC_000006.12:42921732::TA,NC_000006.12:42921732::TAA
Gene:: PTCRA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.42921732_42921733insA, NC_000006.12:g.42921732_42921733insTA, NC_000006.12:g.42921732_42921733insTAA, NC_000006.11:g.42889470_42889471insA, NC_000006.11:g.42889470_42889471insTA, NC_000006.11:g.42889470_42889471insTAA, NG_029636.1:g.10744_10745insA, NG_029636.1:g.10744_10745insTA, NG_029636.1:g.10744_10745insTAA

Select item 14914076123.

rs1491407612 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42921733 (GRCh38)
6:42889471 (GRCh37)
Canonical SPDI:: NC_000006.12:42921732:CA:
Gene:: PTCRA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000006.12:g.42921733_42921734del, NC_000006.11:g.42889471_42889472del, NG_029636.1:g.10745_10746del

Select item 14911270664.

rs1491127066 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:42921732 (GRCh38)
6:42889470 (GRCh37)
Canonical SPDI:: NC_000006.12:42921731:TC:
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.42921732_42921733del, NC_000006.11:g.42889470_42889471del, NG_029636.1:g.10744_10745del

Select item 14906850385.

rs1490685038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42925909 (GRCh38)
6:42893647 (GRCh37)
Canonical SPDI:: NC_000006.12:42925908:A:G
Gene:: PTCRA (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42925909A>G, NC_000006.11:g.42893647A>G, NG_029636.1:g.14921A>G

Select item 14905468376.

rs1490546837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42925565 (GRCh38)
6:42893303 (GRCh37)
Canonical SPDI:: NC_000006.12:42925564:C:A,NC_000006.12:42925564:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,stop_gained
Validated:: by cluster
HGVS:: NC_000006.12:g.42925565C>A, NC_000006.12:g.42925565C>T, NC_000006.11:g.42893303C>A, NC_000006.11:g.42893303C>T, NG_029636.1:g.14577C>A, NG_029636.1:g.14577C>T, NM_138296.3:c.729C>A, NM_138296.3:c.729C>T, NM_138296.2:c.729C>A, NM_138296.2:c.729C>T, NM_001243168.2:c.774C>A, NM_001243168.2:c.774C>T, NM_001243168.1:c.774C>A, NM_001243168.1:c.774C>T, NM_001243169.2:c.654C>A, NM_001243169.2:c.654C>T, NM_001243169.1:c.654C>A, NM_001243169.1:c.654C>T, NM_001243170.2:c.408C>A, NM_001243170.2:c.408C>T, NM_001243170.1:c.408C>A, NM_001243170.1:c.408C>T, XM_024446344.2:c.*64C>A, XM_024446344.2:c.*64C>T, XM_024446344.1:c.*64C>A, XM_024446344.1:c.*64C>T, XM_024446346.2:c.*64C>A, XM_024446346.2:c.*64C>T, XM_024446346.1:c.*64C>A, XM_024446346.1:c.*64C>T, XM_024446342.1:c.630C>A, XM_024446342.1:c.630C>T, XM_024446345.1:c.*64C>A, XM_024446345.1:c.*64C>T, NP_612153.2:p.Tyr243Ter, NP_001230097.1:p.Tyr258Ter, NP_001230098.1:p.Tyr218Ter, NP_001230099.1:p.Tyr136Ter, XP_024302110.1:p.Tyr210Ter

Select item 14904209727.

rs1490420972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:42920375 (GRCh38)
6:42888113 (GRCh37)
Canonical SPDI:: NC_000006.12:42920374:G:C
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42920375G>C, NC_000006.11:g.42888113G>C, NG_029636.1:g.9387G>C

Select item 14903694848.

rs1490369484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:42921100 (GRCh38)
6:42888838 (GRCh37)
Canonical SPDI:: NC_000006.12:42921099:T:G
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.42921100T>G, NC_000006.11:g.42888838T>G, NG_029636.1:g.10112T>G

Select item 14902501209.

rs1490250120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42914641 (GRCh38)
6:42882379 (GRCh37)
Canonical SPDI:: NC_000006.12:42914640:C:T
Gene:: PTCRA (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_000006.12:g.42914641C>T, NC_000006.11:g.42882379C>T, NG_029636.1:g.3653C>T

Select item 149019786010.

rs1490197860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42921413 (GRCh38)
6:42889151 (GRCh37)
Canonical SPDI:: NC_000006.12:42921412:T:C
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000023/1 (GnomAD)
HGVS:: NC_000006.12:g.42921413T>C, NC_000006.11:g.42889151T>C, NG_029636.1:g.10425T>C

Select item 149000270011.

rs1490002700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42914883 (GRCh38)
6:42882621 (GRCh37)
Canonical SPDI:: NC_000006.12:42914882:A:G
Gene:: PTCRA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42914883A>G, NC_000006.11:g.42882621A>G, NG_029636.1:g.3895A>G

Select item 148957389012.

rs1489573890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42915746 (GRCh38)
6:42883484 (GRCh37)
Canonical SPDI:: NC_000006.12:42915745:T:C
Gene:: PTCRA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.42915746T>C, NC_000006.11:g.42883484T>C, NG_029636.1:g.4758T>C

Select item 148927088513.

rs1489270885 has merged into rs11343543 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:42924980 (GRCh38)
6:42892718 (GRCh37)
Canonical SPDI:: NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42924969:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: PTCRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.364/1823 (1000Genomes)
-=0.375/15 (GENOME_DK)
A=0.4849/290 (NorthernSweden)
HGVS:: NC_000006.12:g.42924980_42924983del, NC_000006.12:g.42924981_42924983del, NC_000006.12:g.42924982_42924983del, NC_000006.12:g.42924983del, NC_000006.12:g.42924983dup, NC_000006.12:g.42924982_42924983dup, NC_000006.11:g.42892718_42892721del, NC_000006.11:g.42892719_42892721del, NC_000006.11:g.42892720_42892721del, NC_000006.11:g.42892721del, NC_000006.11:g.42892721dup, NC_000006.11:g.42892720_42892721dup, NG_029636.1:g.13992_13995del, NG_029636.1:g.13993_13995del, NG_029636.1:g.13994_13995del, NG_029636.1:g.13995del, NG_029636.1:g.13995dup, NG_029636.1:g.13994_13995dup

Select item 148913381414.

rs1489133814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42916670 (GRCh38)
6:42884408 (GRCh37)
Canonical SPDI:: NC_000006.12:42916669:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.42916670G>A, NC_000006.11:g.42884408G>A, NG_029636.1:g.5682G>A

Select item 148910123015.

rs1489101230 has merged into rs371462556 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:42921748 (GRCh38)
6:42889486 (GRCh37)
Canonical SPDI:: NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:42921733:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PTCRA (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0361/19 (NorthernSweden)
HGVS:: NC_000006.12:g.42921748_42921751del, NC_000006.12:g.42921749_42921751del, NC_000006.12:g.42921750_42921751del, NC_000006.12:g.42921751del, NC_000006.12:g.42921751dup, NC_000006.12:g.42921750_42921751dup, NC_000006.11:g.42889486_42889489del, NC_000006.11:g.42889487_42889489del, NC_000006.11:g.42889488_42889489del, NC_000006.11:g.42889489del, NC_000006.11:g.42889489dup, NC_000006.11:g.42889488_42889489dup, NG_029636.1:g.10760_10763del, NG_029636.1:g.10761_10763del, NG_029636.1:g.10762_10763del, NG_029636.1:g.10763del, NG_029636.1:g.10763dup, NG_029636.1:g.10762_10763dup

Select item 148872253516.

rs1488722535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42918527 (GRCh38)
6:42886265 (GRCh37)
Canonical SPDI:: NC_000006.12:42918526:C:A
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42918527C>A, NC_000006.11:g.42886265C>A, NG_029636.1:g.7539C>A

Select item 148867063717.

rs1488670637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:42921048 (GRCh38)
6:42888786 (GRCh37)
Canonical SPDI:: NC_000006.12:42921047:T:A,NC_000006.12:42921047:T:C
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00018/5 (TOMMO)
HGVS:: NC_000006.12:g.42921048T>A, NC_000006.12:g.42921048T>C, NC_000006.11:g.42888786T>A, NC_000006.11:g.42888786T>C, NG_029636.1:g.10060T>A, NG_029636.1:g.10060T>C

Select item 148865112118.

rs1488651121 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGCTG>- [Show Flanks]
Chromosome:: 6:42919430 (GRCh38)
6:42887168 (GRCh37)
Canonical SPDI:: NC_000006.12:42919426:CTGCAGGCTG:CTG
Gene:: PTCRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42919430_42919436del, NC_000006.11:g.42887168_42887174del, NG_029636.1:g.8442_8448del

Select item 148840702919.

rs1488407029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925274 (GRCh38)
6:42893012 (GRCh37)
Canonical SPDI:: NC_000006.12:42925273:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000006.12:g.42925274G>A, NC_000006.11:g.42893012G>A, NG_029636.1:g.14286G>A, NM_138296.3:c.438G>A, NM_138296.2:c.438G>A, NM_001243168.2:c.483G>A, NM_001243168.1:c.483G>A, NM_001243169.2:c.363G>A, NM_001243169.1:c.363G>A, NM_001243170.2:c.117G>A, NM_001243170.1:c.117G>A, XM_024446342.1:c.339G>A

Select item 148827441220.

rs1488274412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42924936 (GRCh38)
6:42892674 (GRCh37)
Canonical SPDI:: NC_000006.12:42924935:C:A,NC_000006.12:42924935:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00078/5 (1000Genomes)
HGVS:: NC_000006.12:g.42924936C>A, NC_000006.12:g.42924936C>T, NC_000006.11:g.42892674C>A, NC_000006.11:g.42892674C>T, NG_029636.1:g.13948C>A, NG_029636.1:g.13948C>T

<< First< Prev

Page of 161

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3220

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity