SNP Links for Gene (Select 7125) - SNP

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Select item 14912042021.

rs1491204202 has merged into rs111300154 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:45826006 (GRCh38)
20:44454645 (GRCh37)
Canonical SPDI:: NC_000020.11:45826005:CCCCCCCC:CCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:45826005:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.04008/40 (GoNL)
-=0.0619/310 (1000Genomes)
HGVS:: NC_000020.11:g.45826013del, NC_000020.11:g.45826013dup, NC_000020.11:g.45826012_45826013dup, NC_000020.11:g.45826011_45826013dup, NC_000020.11:g.45826010_45826013dup, NC_000020.11:g.45826009_45826013dup, NC_000020.11:g.45826008_45826013dup, NC_000020.11:g.45826006_45826013dup, NC_000020.11:g.45826013_45826014insCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.45826013_45826014insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.44454652del, NC_000020.10:g.44454652dup, NC_000020.10:g.44454651_44454652dup, NC_000020.10:g.44454650_44454652dup, NC_000020.10:g.44454649_44454652dup, NC_000020.10:g.44454648_44454652dup, NC_000020.10:g.44454647_44454652dup, NC_000020.10:g.44454645_44454652dup, NC_000020.10:g.44454652_44454653insCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.44454652_44454653insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 14907702822.

rs1490770282 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 20:45824142 (GRCh38)
20:44452782 (GRCh37)
Canonical SPDI:: NC_000020.11:45824142::CCT
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCT=0./0 (ALFA)
CCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45824142_45824143insCCT, NC_000020.10:g.44452781_44452782insCCT

Select item 14905566103.

rs1490556610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45825593 (GRCh38)
20:44454232 (GRCh37)
Canonical SPDI:: NC_000020.11:45825592:G:A
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45825593G>A, NC_000020.10:g.44454232G>A

Select item 14904654194.

rs1490465419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45829146 (GRCh38)
20:44457785 (GRCh37)
Canonical SPDI:: NC_000020.11:45829145:A:G
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.45829146A>G, NC_000020.10:g.44457785A>G

Select item 14904518945.

rs1490451894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45829916 (GRCh38)
20:44458555 (GRCh37)
Canonical SPDI:: NC_000020.11:45829915:T:C
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000020.11:g.45829916T>C, NC_000020.10:g.44458555T>C

Select item 14903158816.

rs1490315881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45829425 (GRCh38)
20:44458064 (GRCh37)
Canonical SPDI:: NC_000020.11:45829424:A:G
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45829425A>G, NC_000020.10:g.44458064A>G

Select item 14902797077.

rs1490279707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:45830340 (GRCh38)
20:44458979 (GRCh37)
Canonical SPDI:: NC_000020.11:45830339:A:C
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000020.11:g.45830340A>C, NC_000020.10:g.44458979A>C

Select item 14894236278.

rs1489423627 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:45834951 (GRCh38)
20:44463590 (GRCh37)
Canonical SPDI:: NC_000020.11:45834947:TGTGT:TGT
Gene:: TNNC2 (Varview), SNX21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45834949GT[1], NC_000020.10:g.44463588GT[1]

Select item 14891805459.

rs1489180545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45829251 (GRCh38)
20:44457890 (GRCh37)
Canonical SPDI:: NC_000020.11:45829250:G:A
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000023/3 (GnomAD)
HGVS:: NC_000020.11:g.45829251G>A, NC_000020.10:g.44457890G>A

Select item 148896378310.

rs1488963783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:45834933 (GRCh38)
20:44463572 (GRCh37)
Canonical SPDI:: NC_000020.11:45834932:T:A
Gene:: TNNC2 (Varview), SNX21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_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_000020.11:g.45834933T>A, NC_000020.10:g.44463572T>A

Select item 148876410011.

rs1488764100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45830406 (GRCh38)
20:44459045 (GRCh37)
Canonical SPDI:: NC_000020.11:45830405:G:A
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45830406G>A, NC_000020.10:g.44459045G>A

Select item 148789851312.

rs1487898513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45827372 (GRCh38)
20:44456011 (GRCh37)
Canonical SPDI:: NC_000020.11:45827371:C:T
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.45827372C>T, NC_000020.10:g.44456011C>T

Select item 148786624313.

rs1487866243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45828563 (GRCh38)
20:44457202 (GRCh37)
Canonical SPDI:: NC_000020.11:45828562:G:A
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.45828563G>A, NC_000020.10:g.44457202G>A

Select item 148767786514.

rs1487677865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45823609 (GRCh38)
20:44452248 (GRCh37)
Canonical SPDI:: NC_000020.11:45823608:C:T
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_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_000020.11:g.45823609C>T, NC_000020.10:g.44452248C>T

Select item 148764755215.

rs1487647552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 20:45824696 (GRCh38)
20:44453335 (GRCh37)
Canonical SPDI:: NC_000020.11:45824695:A:C,NC_000020.11:45824695:A:G,NC_000020.11:45824695:A:T
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0005/7 (ALFA)
C=0.01007/6 (NorthernSweden)
C=0.12656/366 (KOREAN)
A=0.5/14 (SGDP_PRJ)
HGVS:: NC_000020.11:g.45824696A>C, NC_000020.11:g.45824696A>G, NC_000020.11:g.45824696A>T, NC_000020.10:g.44453335A>C, NC_000020.10:g.44453335A>G, NC_000020.10:g.44453335A>T

Select item 148735428716.

rs1487354287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45824110 (GRCh38)
20:44452749 (GRCh37)
Canonical SPDI:: NC_000020.11:45824109:A:G
Gene:: TNNC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.45824110A>G, NC_000020.10:g.44452749A>G, NM_003279.3:c.332T>C, NM_003279.2:c.332T>C, XM_011529031.3:c.287T>C, XM_011529031.2:c.287T>C, XM_011529031.1:c.287T>C, NP_003270.1:p.Ile111Thr, XP_011527333.1:p.Ile96Thr

Select item 148723716417.

rs1487237164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:45827014 (GRCh38)
20:44455653 (GRCh37)
Canonical SPDI:: NC_000020.11:45827013:T:A
Gene:: TNNC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45827014T>A, NC_000020.10:g.44455653T>A

Select item 148717126918.

rs1487171269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45832187 (GRCh38)
20:44460826 (GRCh37)
Canonical SPDI:: NC_000020.11:45832186:G:A
Gene:: TNNC2 (Varview), SNX21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_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_000020.11:g.45832187G>A, NC_000020.10:g.44460826G>A

Select item 148674254719.

rs1486742547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45833674 (GRCh38)
20:44462313 (GRCh37)
Canonical SPDI:: NC_000020.11:45833673:G:A
Gene:: TNNC2 (Varview), SNX21 (Varview)
Functional Consequence:: upstream_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_000020.11:g.45833674G>A, NC_000020.10:g.44462313G>A

Select item 148590102120.

rs1485901021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45829408 (GRCh38)
20:44458047 (GRCh37)
Canonical SPDI:: NC_000020.11:45829407:C:T
Gene:: TNNC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.45829408C>T, NC_000020.10:g.44458047C>T

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