SNP Links for Gene (Select 7135) - SNP

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Select item 14914895971.

rs1491489597 has merged into rs3219865 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:201421865 (GRCh38)
1:201390993 (GRCh37)
Canonical SPDI:: NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:201421841:CACACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: TNNI1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.201421843AC[11], NC_000001.11:g.201421843AC[12], NC_000001.11:g.201421843AC[13], NC_000001.11:g.201421843AC[14], NC_000001.11:g.201421843AC[15], NC_000001.11:g.201421843AC[16], NC_000001.11:g.201421843AC[17], NC_000001.11:g.201421843AC[18], NC_000001.11:g.201421843AC[19], NC_000001.11:g.201421843AC[20], NC_000001.11:g.201421843AC[21], NC_000001.11:g.201421843AC[23], NC_000001.11:g.201421843AC[24], NC_000001.11:g.201421843AC[25], NC_000001.11:g.201421843AC[26], NC_000001.11:g.201421843AC[27], NC_000001.11:g.201421843AC[28], NC_000001.11:g.201421843AC[29], NC_000001.11:g.201421843AC[30], NC_000001.11:g.201421843AC[31], NC_000001.11:g.201421843AC[34], NC_000001.10:g.201390971AC[11], NC_000001.10:g.201390971AC[12], NC_000001.10:g.201390971AC[13], NC_000001.10:g.201390971AC[14], NC_000001.10:g.201390971AC[15], NC_000001.10:g.201390971AC[16], NC_000001.10:g.201390971AC[17], NC_000001.10:g.201390971AC[18], NC_000001.10:g.201390971AC[19], NC_000001.10:g.201390971AC[20], NC_000001.10:g.201390971AC[21], NC_000001.10:g.201390971AC[23], NC_000001.10:g.201390971AC[24], NC_000001.10:g.201390971AC[25], NC_000001.10:g.201390971AC[26], NC_000001.10:g.201390971AC[27], NC_000001.10:g.201390971AC[28], NC_000001.10:g.201390971AC[29], NC_000001.10:g.201390971AC[30], NC_000001.10:g.201390971AC[31], NC_000001.10:g.201390971AC[34], NG_016649.2:g.4862TG[11], NG_016649.2:g.4862TG[12], NG_016649.2:g.4862TG[13], NG_016649.2:g.4862TG[14], NG_016649.2:g.4862TG[15], NG_016649.2:g.4862TG[16], NG_016649.2:g.4862TG[17], NG_016649.2:g.4862TG[18], NG_016649.2:g.4862TG[19], NG_016649.2:g.4862TG[20], NG_016649.2:g.4862TG[21], NG_016649.2:g.4862TG[23], NG_016649.2:g.4862TG[24], NG_016649.2:g.4862TG[25], NG_016649.2:g.4862TG[26], NG_016649.2:g.4862TG[27], NG_016649.2:g.4862TG[28], NG_016649.2:g.4862TG[29], NG_016649.2:g.4862TG[30], NG_016649.2:g.4862TG[31], NG_016649.2:g.4862TG[34]

Select item 14914588812.

rs1491458881 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:201421840 (GRCh38)
1:201390968 (GRCh37)
Canonical SPDI:: NC_000001.11:201421839:TT:
Gene:: TNNI1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.201421840_201421841del, NC_000001.10:g.201390968_201390969del, NG_016649.2:g.4906_4907del

Select item 14913984643.

rs1491398464 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,CACACACAC,CC [Show Flanks]
Chromosome:: 1:201421840 (GRCh38)
1:201390969 (GRCh37)
Canonical SPDI:: NC_000001.11:201421840::AC,NC_000001.11:201421840::CACACACAC,NC_000001.11:201421840::CC
Gene:: TNNI1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000001.11:g.201421840_201421841insAC, NC_000001.11:g.201421840_201421841insCACACACAC, NC_000001.11:g.201421840_201421841insCC, NC_000001.10:g.201390968_201390969insAC, NC_000001.10:g.201390968_201390969insCACACACAC, NC_000001.10:g.201390968_201390969insCC, NG_016649.2:g.4906_4907insGT, NG_016649.2:g.4906_4907insGTGTGTGTG, NG_016649.2:g.4906_4907insGG

Select item 14912477364.

rs1491247736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:201421842 (GRCh38)
1:201390971 (GRCh37)
Canonical SPDI:: NC_000001.11:201421842:A:ATA
Gene:: TNNI1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
AT=0.00024/2 (GnomAD)
HGVS:: NC_000001.11:g.201421843_201421844insTA, NC_000001.10:g.201390971_201390972insTA, NG_016649.2:g.4904_4905insAT

Select item 14910791805.

rs1491079180 has merged into rs5780068 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCCCC [Show Flanks]
Chromosome:: 1:201415583 (GRCh38)
1:201384711 (GRCh37)
Canonical SPDI:: NC_000001.11:201415575:CCCCCCCCC:CCCCCCC,NC_000001.11:201415575:CCCCCCCCC:CCCCCCCC,NC_000001.11:201415575:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:201415575:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:201415575:CCCCCCCCC:CCCCCCCCCCCCCC
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.0002/1 (ALFA)
C=0.1437/554 (ALSPAC)
C=0.1437/643 (Estonian)
C=0.15/6 (GENOME_DK)
C=0.1583/158 (GoNL)
C=0.1597/592 (TWINSUK)
C=0.175/105 (NorthernSweden)
C=0.227/1130 (1000Genomes)
HGVS:: NC_000001.11:g.201415583_201415584del, NC_000001.11:g.201415584del, NC_000001.11:g.201415584dup, NC_000001.11:g.201415583_201415584dup, NC_000001.11:g.201415580_201415584dup, NC_000001.10:g.201384711_201384712del, NC_000001.10:g.201384712del, NC_000001.10:g.201384712dup, NC_000001.10:g.201384711_201384712dup, NC_000001.10:g.201384708_201384712dup, NG_016649.2:g.11170_11171del, NG_016649.2:g.11171del, NG_016649.2:g.11171dup, NG_016649.2:g.11170_11171dup, NG_016649.2:g.11167_11171dup

Select item 14904592166.

rs1490459216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201419329 (GRCh38)
1:201388457 (GRCh37)
Canonical SPDI:: NC_000001.11:201419328:T:C
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_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_000001.11:g.201419329T>C, NC_000001.10:g.201388457T>C, NG_016649.2:g.7418A>G

Select item 14904444137.

rs1490444413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201420332 (GRCh38)
1:201389460 (GRCh37)
Canonical SPDI:: NC_000001.11:201420331:A:G
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.201420332A>G, NC_000001.10:g.201389460A>G, NG_016649.2:g.6415T>C

Select item 14904319168.

rs1490431916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201404485 (GRCh38)
1:201373613 (GRCh37)
Canonical SPDI:: NC_000001.11:201404484:T:C
Gene:: TNNI1 (Varview), LOC101929343 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000001.11:g.201404485T>C, NC_000001.10:g.201373613T>C, NG_016649.2:g.22262A>G, NM_003281.4:c.*4768A>G, NM_003281.3:c.*4768A>G, XR_241172.3:n.3993T>C

Select item 14903731949.

rs1490373194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201404598 (GRCh38)
1:201373726 (GRCh37)
Canonical SPDI:: NC_000001.11:201404597:T:C
Gene:: TNNI1 (Varview), LOC101929343 (Varview)
Functional Consequence:: non_coding_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_000001.11:g.201404598T>C, NC_000001.10:g.201373726T>C, NG_016649.2:g.22149A>G, NM_003281.4:c.*4655A>G, NM_003281.3:c.*4655A>G, XR_241172.3:n.4106T>C

Select item 149035844410.

rs1490358444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201403504 (GRCh38)
1:201372632 (GRCh37)
Canonical SPDI:: NC_000001.11:201403503:G:A
Gene:: TNNI1 (Varview), LOC101929343 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.201403504G>A, NC_000001.10:g.201372632G>A, NG_016649.2:g.23243C>T, XR_241172.3:n.3012G>A

Select item 149020409811.

rs1490204098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201418126 (GRCh38)
1:201387254 (GRCh37)
Canonical SPDI:: NC_000001.11:201418125:G:T
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.201418126G>T, NC_000001.10:g.201387254G>T, NG_016649.2:g.8621C>A

Select item 149015442312.

rs1490154423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201411039 (GRCh38)
1:201380167 (GRCh37)
Canonical SPDI:: NC_000001.11:201411038:C:T
Gene:: TNNI1 (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_000001.11:g.201411039C>T, NC_000001.10:g.201380167C>T, NG_016649.2:g.15708G>A

Select item 148996055913.

rs1489960559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:201409512 (GRCh38)
1:201378640 (GRCh37)
Canonical SPDI:: NC_000001.11:201409511:G:A
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.201409512G>A, NC_000001.10:g.201378640G>A, NG_016649.2:g.17235C>T

Select item 148900934614.

rs1489009346 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:201405428 (GRCh38)
1:201374556 (GRCh37)
Canonical SPDI:: NC_000001.11:201405427:GGGGG:GGGG
Gene:: TNNI1 (Varview), LOC101929343 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.201405432del, NC_000001.10:g.201374560del, NG_016649.2:g.21319del, NM_003281.4:c.*3825del, NM_003281.3:c.*3825del, XR_241172.3:n.4940del

Select item 148894921515.

rs1488949215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:201414562 (GRCh38)
1:201383690 (GRCh37)
Canonical SPDI:: NC_000001.11:201414561:T:G
Gene:: TNNI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.201414562T>G, NC_000001.10:g.201383690T>G, NG_016649.2:g.12185A>C, NM_003281.4:c.145A>C, NM_003281.3:c.145A>C, NP_003272.3:p.Ile49Leu

Select item 148879755916.

rs1488797559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:201421292 (GRCh38)
1:201390420 (GRCh37)
Canonical SPDI:: NC_000001.11:201421291:G:T
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.201421292G>T, NC_000001.10:g.201390420G>T, NG_016649.2:g.5455C>A

Select item 148875668117.

rs1488756681 [Homo sapiens]

Variant type:: DEL
Alleles:: AGT>- [Show Flanks]
Chromosome:: 1:201408237 (GRCh38)
1:201377365 (GRCh37)
Canonical SPDI:: NC_000001.11:201408236:AGT:
Gene:: TNNI1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.201408237_201408239del, NC_000001.10:g.201377365_201377367del, NG_016649.2:g.18508_18510del, NM_003281.4:c.*1014_*1016del, NM_003281.3:c.*1014_*1016del

Select item 148870652418.

rs1488706524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:201418223 (GRCh38)
1:201387351 (GRCh37)
Canonical SPDI:: NC_000001.11:201418222:C:T
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.201418223C>T, NC_000001.10:g.201387351C>T, NG_016649.2:g.8524G>A

Select item 148854403319.

rs1488544033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:201417679 (GRCh38)
1:201386807 (GRCh37)
Canonical SPDI:: NC_000001.11:201417678:A:G
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.201417679A>G, NC_000001.10:g.201386807A>G, NG_016649.2:g.9068T>C

Select item 148851357720.

rs1488513577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:201417640 (GRCh38)
1:201386768 (GRCh37)
Canonical SPDI:: NC_000001.11:201417639:T:C
Gene:: TNNI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.201417640T>C, NC_000001.10:g.201386768T>C, NG_016649.2:g.9107A>G

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