SNP Links for Gene (Select 79905) - SNP

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Select item 14914954811.

rs1491495481 has merged into rs35266186 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:19047727 (GRCh38)
16:19059049 (GRCh37)
Canonical SPDI:: NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:19047713:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1787/895 (1000Genomes)
HGVS:: NC_000016.10:g.19047727_19047730del, NC_000016.10:g.19047728_19047730del, NC_000016.10:g.19047729_19047730del, NC_000016.10:g.19047730del, NC_000016.10:g.19047730dup, NC_000016.10:g.19047729_19047730dup, NC_000016.10:g.19047723_19047730dup, NC_000016.9:g.19059049_19059052del, NC_000016.9:g.19059050_19059052del, NC_000016.9:g.19059051_19059052del, NC_000016.9:g.19059052del, NC_000016.9:g.19059052dup, NC_000016.9:g.19059051_19059052dup, NC_000016.9:g.19059045_19059052dup

Select item 14914945782.

rs1491494578 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:19012129 (GRCh38)
16:19023451 (GRCh37)
Canonical SPDI:: NC_000016.10:19012128:CA:
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.19012129_19012130del, NC_000016.9:g.19023451_19023452del, NG_045313.1:g.73_74del

Select item 14914906153.

rs1491490615 has merged into rs869030181 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:19056969 (GRCh38)
16:19068291 (GRCh37)
Canonical SPDI:: NC_000016.10:19056967:ATA:A
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00012/9 (GnomAD)
-=0.00016/1 (1000Genomes)
-=0.00032/5 (TOMMO)
HGVS:: NC_000016.10:g.19056969_19056970del, NC_000016.9:g.19068291_19068292del

Select item 14914369984.

rs1491436998 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTGTGTG [Show Flanks]
Chromosome:: 16:19064350 (GRCh38)
16:19075673 (GRCh37)
Canonical SPDI:: NC_000016.10:19064350:GTGTGTGTGTG:GTGTGTGTGTGCGTGTGTGTGTG
Gene:: TMC7 (Varview), COQ7-DT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGTGCGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000016.10:g.19064351_19064361GT[5]GCGTGTGTGTGTG[1], NC_000016.9:g.19075673_19075683GT[5]GCGTGTGTGTGTG[1], NG_046596.1:g.1757_1767GT[5]GCGTGTGTGTGTG[1]

Select item 14914295455.

rs1491429545 has merged into rs60078349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:19012143 (GRCh38)
16:19023465 (GRCh37)
Canonical SPDI:: NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19012129:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.1286/644 (1000Genomes)
HGVS:: NC_000016.10:g.19012143_19012148del, NC_000016.10:g.19012144_19012148del, NC_000016.10:g.19012145_19012148del, NC_000016.10:g.19012146_19012148del, NC_000016.10:g.19012147_19012148del, NC_000016.10:g.19012148del, NC_000016.10:g.19012148dup, NC_000016.10:g.19012147_19012148dup, NC_000016.10:g.19012146_19012148dup, NC_000016.10:g.19012144_19012148dup, NC_000016.10:g.19012142_19012148dup, NC_000016.9:g.19023465_19023470del, NC_000016.9:g.19023466_19023470del, NC_000016.9:g.19023467_19023470del, NC_000016.9:g.19023468_19023470del, NC_000016.9:g.19023469_19023470del, NC_000016.9:g.19023470del, NC_000016.9:g.19023470dup, NC_000016.9:g.19023469_19023470dup, NC_000016.9:g.19023468_19023470dup, NC_000016.9:g.19023466_19023470dup, NC_000016.9:g.19023464_19023470dup, NG_045313.1:g.87_92del, NG_045313.1:g.88_92del, NG_045313.1:g.89_92del, NG_045313.1:g.90_92del, NG_045313.1:g.91_92del, NG_045313.1:g.92del, NG_045313.1:g.92dup, NG_045313.1:g.91_92dup, NG_045313.1:g.90_92dup, NG_045313.1:g.88_92dup, NG_045313.1:g.86_92dup

Select item 14914129406.

rs1491412940 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 16:19063671 (GRCh38)
16:19074994 (GRCh37)
Canonical SPDI:: NC_000016.10:19063671::C,NC_000016.10:19063671::G
Gene:: TMC7 (Varview), COQ7-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000047/5 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.19063671_19063672insC, NC_000016.10:g.19063671_19063672insG, NC_000016.9:g.19074993_19074994insC, NC_000016.9:g.19074993_19074994insG, NG_046596.1:g.1077_1078insC, NG_046596.1:g.1077_1078insG, NM_024847.4:c.*1828_*1829insC, NM_024847.4:c.*1828_*1829insG, NM_024847.3:c.*1828_*1829insC, NM_024847.3:c.*1828_*1829insG, NM_001160364.2:c.*1828_*1829insC, NM_001160364.2:c.*1828_*1829insG, NM_001160364.1:c.*1828_*1829insC, NM_001160364.1:c.*1828_*1829insG, XM_047434662.1:c.*1828_*1829insC, XM_047434662.1:c.*1828_*1829insG, NM_001324263.1:c.*1828_*1829insC, NM_001324263.1:c.*1828_*1829insG, XM_047434661.1:c.*1828_*1829insC, XM_047434661.1:c.*1828_*1829insG, NM_001324268.1:c.*1828_*1829insC, NM_001324268.1:c.*1828_*1829insG, NM_001324265.1:c.*1828_*1829insC, NM_001324265.1:c.*1828_*1829insG, NR_136733.1:n.3961_3962insC, NR_136733.1:n.3961_3962insG

Select item 14914050347.

rs1491405034 has merged into rs57300199 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:19037483 (GRCh38)
16:19048805 (GRCh37)
Canonical SPDI:: NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:19037472:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4702/2355 (1000Genomes)
TT=0.475/19 (GENOME_DK)
HGVS:: NC_000016.10:g.19037483_19037486del, NC_000016.10:g.19037485_19037486del, NC_000016.10:g.19037486del, NC_000016.10:g.19037486dup, NC_000016.10:g.19037485_19037486dup, NC_000016.10:g.19037484_19037486dup, NC_000016.10:g.19037483_19037486dup, NC_000016.10:g.19037482_19037486dup, NC_000016.10:g.19037476_19037486dup, NC_000016.9:g.19048805_19048808del, NC_000016.9:g.19048807_19048808del, NC_000016.9:g.19048808del, NC_000016.9:g.19048808dup, NC_000016.9:g.19048807_19048808dup, NC_000016.9:g.19048806_19048808dup, NC_000016.9:g.19048805_19048808dup, NC_000016.9:g.19048804_19048808dup, NC_000016.9:g.19048798_19048808dup

Select item 14913496788.

rs1491349678 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,T [Show Flanks]
Chromosome:: 16:19009957 (GRCh38)
16:19021280 (GRCh37)
Canonical SPDI:: NC_000016.10:19009957::AT,NC_000016.10:19009957::T
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
T=0.000144/20 (GnomAD)
HGVS:: NC_000016.10:g.19009957_19009958insAT, NC_000016.10:g.19009957_19009958insT, NC_000016.9:g.19021279_19021280insAT, NC_000016.9:g.19021279_19021280insT

Select item 14912499649.

rs1491249964 has merged into rs35057088 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 16:19004055 (GRCh38)
16:19015377 (GRCh37)
Canonical SPDI:: NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:19004042:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.308735/81719 (TOPMED)
AA=0.453125/203 (NorthernSweden)
HGVS:: NC_000016.10:g.19004055_19004059del, NC_000016.10:g.19004056_19004059del, NC_000016.10:g.19004057_19004059del, NC_000016.10:g.19004058_19004059del, NC_000016.10:g.19004059del, NC_000016.10:g.19004059dup, NC_000016.9:g.19015377_19015381del, NC_000016.9:g.19015378_19015381del, NC_000016.9:g.19015379_19015381del, NC_000016.9:g.19015380_19015381del, NC_000016.9:g.19015381del, NC_000016.9:g.19015381dup

Select item 149121229510.

rs1491212295 has merged into rs55719597 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:19040124 (GRCh38)
16:19051446 (GRCh37)
Canonical SPDI:: NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19040115:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.19040124_19040138del, NC_000016.10:g.19040125_19040138del, NC_000016.10:g.19040126_19040138del, NC_000016.10:g.19040127_19040138del, NC_000016.10:g.19040128_19040138del, NC_000016.10:g.19040129_19040138del, NC_000016.10:g.19040131_19040138del, NC_000016.10:g.19040132_19040138del, NC_000016.10:g.19040133_19040138del, NC_000016.10:g.19040134_19040138del, NC_000016.10:g.19040135_19040138del, NC_000016.10:g.19040136_19040138del, NC_000016.10:g.19040137_19040138del, NC_000016.10:g.19040138del, NC_000016.10:g.19040138dup, NC_000016.10:g.19040137_19040138dup, NC_000016.10:g.19040136_19040138dup, NC_000016.10:g.19040135_19040138dup, NC_000016.10:g.19040134_19040138dup, NC_000016.10:g.19040132_19040138dup, NC_000016.9:g.19051446_19051460del, NC_000016.9:g.19051447_19051460del, NC_000016.9:g.19051448_19051460del, NC_000016.9:g.19051449_19051460del, NC_000016.9:g.19051450_19051460del, NC_000016.9:g.19051451_19051460del, NC_000016.9:g.19051453_19051460del, NC_000016.9:g.19051454_19051460del, NC_000016.9:g.19051455_19051460del, NC_000016.9:g.19051456_19051460del, NC_000016.9:g.19051457_19051460del, NC_000016.9:g.19051458_19051460del, NC_000016.9:g.19051459_19051460del, NC_000016.9:g.19051460del, NC_000016.9:g.19051460dup, NC_000016.9:g.19051459_19051460dup, NC_000016.9:g.19051458_19051460dup, NC_000016.9:g.19051457_19051460dup, NC_000016.9:g.19051456_19051460dup, NC_000016.9:g.19051454_19051460dup

Select item 149120586911.

rs1491205869 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:19037386 (GRCh38)
16:19048708 (GRCh37)
Canonical SPDI:: NC_000016.10:19037385:CA:
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01045/124 (ALFA)
HGVS:: NC_000016.10:g.19037386_19037387del, NC_000016.9:g.19048708_19048709del

Select item 149119873612.

rs1491198736 has merged into rs34990574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:19037400 (GRCh38)
16:19048722 (GRCh37)
Canonical SPDI:: NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19037386:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.19037400_19037403del, NC_000016.10:g.19037401_19037403del, NC_000016.10:g.19037402_19037403del, NC_000016.10:g.19037403del, NC_000016.10:g.19037403dup, NC_000016.10:g.19037402_19037403dup, NC_000016.10:g.19037401_19037403dup, NC_000016.10:g.19037397_19037403dup, NC_000016.10:g.19037396_19037403dup, NC_000016.10:g.19037395_19037403dup, NC_000016.9:g.19048722_19048725del, NC_000016.9:g.19048723_19048725del, NC_000016.9:g.19048724_19048725del, NC_000016.9:g.19048725del, NC_000016.9:g.19048725dup, NC_000016.9:g.19048724_19048725dup, NC_000016.9:g.19048723_19048725dup, NC_000016.9:g.19048719_19048725dup, NC_000016.9:g.19048718_19048725dup, NC_000016.9:g.19048717_19048725dup

Select item 149119468913.

rs1491194689 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:19040115 (GRCh38)
16:19051437 (GRCh37)
Canonical SPDI:: NC_000016.10:19040114:CA:
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01711/203 (ALFA)
-=0.00126/35 (TOMMO)
HGVS:: NC_000016.10:g.19040115_19040116del, NC_000016.9:g.19051437_19051438del

Select item 149116908414.

rs1491169084 has merged into rs71143824 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:19050377 (GRCh38)
16:19061699 (GRCh37)
Canonical SPDI:: NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:19050366:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.19050377_19050392del, NC_000016.10:g.19050379_19050392del, NC_000016.10:g.19050380_19050392del, NC_000016.10:g.19050381_19050392del, NC_000016.10:g.19050382_19050392del, NC_000016.10:g.19050385_19050392del, NC_000016.10:g.19050387_19050392del, NC_000016.10:g.19050388_19050392del, NC_000016.10:g.19050389_19050392del, NC_000016.10:g.19050390_19050392del, NC_000016.10:g.19050391_19050392del, NC_000016.10:g.19050392del, NC_000016.10:g.19050392dup, NC_000016.10:g.19050391_19050392dup, NC_000016.10:g.19050390_19050392dup, NC_000016.10:g.19050389_19050392dup, NC_000016.10:g.19050388_19050392dup, NC_000016.10:g.19050385_19050392dup, NC_000016.10:g.19050383_19050392dup, NC_000016.10:g.19050382_19050392dup, NC_000016.10:g.19050379_19050392dup, NC_000016.10:g.19050377_19050392dup, NC_000016.9:g.19061699_19061714del, NC_000016.9:g.19061701_19061714del, NC_000016.9:g.19061702_19061714del, NC_000016.9:g.19061703_19061714del, NC_000016.9:g.19061704_19061714del, NC_000016.9:g.19061707_19061714del, NC_000016.9:g.19061709_19061714del, NC_000016.9:g.19061710_19061714del, NC_000016.9:g.19061711_19061714del, NC_000016.9:g.19061712_19061714del, NC_000016.9:g.19061713_19061714del, NC_000016.9:g.19061714del, NC_000016.9:g.19061714dup, NC_000016.9:g.19061713_19061714dup, NC_000016.9:g.19061712_19061714dup, NC_000016.9:g.19061711_19061714dup, NC_000016.9:g.19061710_19061714dup, NC_000016.9:g.19061707_19061714dup, NC_000016.9:g.19061705_19061714dup, NC_000016.9:g.19061704_19061714dup, NC_000016.9:g.19061701_19061714dup, NC_000016.9:g.19061699_19061714dup

Select item 149112476115.

rs1491124761 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:19050366 (GRCh38)
16:19061688 (GRCh37)
Canonical SPDI:: NC_000016.10:19050365:CA:
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00135/16 (ALFA)
-=0.00207/55 (TOMMO)
HGVS:: NC_000016.10:g.19050366_19050367del, NC_000016.9:g.19061688_19061689del

Select item 149112249816.

rs1491122498 has merged into rs71374450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAATAAA>-,TAAA,TAAATAAATAAA,TAAATAAATAAATAAA [Show Flanks]
Chromosome:: 16:19034631 (GRCh38)
16:19045953 (GRCh37)
Canonical SPDI:: NC_000016.10:19034614:TAAATAAATAAATAAATAAATAAA:TAAATAAATAAATAAA,NC_000016.10:19034614:TAAATAAATAAATAAATAAATAAA:TAAATAAATAAATAAATAAA,NC_000016.10:19034614:TAAATAAATAAATAAATAAATAAA:TAAATAAATAAATAAATAAATAAATAAA,NC_000016.10:19034614:TAAATAAATAAATAAATAAATAAA:TAAATAAATAAATAAATAAATAAATAAATAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATAAATAAATAAATAAA=0./0 (ALFA)
TAAA=0.15143/2538 (TOMMO)
TAAA=0.15611/286 (Korea1K)
TAAA=0.175/7 (GENOME_DK)
TAAA=0.39833/239 (NorthernSweden)
HGVS:: NC_000016.10:g.19034615TAAA[4], NC_000016.10:g.19034615TAAA[5], NC_000016.10:g.19034615TAAA[7], NC_000016.10:g.19034615TAAA[8], NC_000016.9:g.19045937TAAA[4], NC_000016.9:g.19045937TAAA[5], NC_000016.9:g.19045937TAAA[7], NC_000016.9:g.19045937TAAA[8]

Select item 149110601517.

rs1491106015 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 16:19037473 (GRCh38)
16:19048796 (GRCh37)
Canonical SPDI:: NC_000016.10:19037473:T:TGT
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.19037474_19037475insGT, NC_000016.9:g.19048796_19048797insGT

Select item 149105600718.

rs1491056007 has merged into rs36110318 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 16:18998760 (GRCh38)
16:19010082 (GRCh37)
Canonical SPDI:: NC_000016.10:18998753:AAAAAAAAAAAAA:AAAAAA,NC_000016.10:18998753:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:18998753:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:18998753:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:18998753:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.0937/469 (1000Genomes)
-=0.3793/1462 (ALSPAC)
HGVS:: NC_000016.10:g.18998760_18998766del, NC_000016.10:g.18998764_18998766del, NC_000016.10:g.18998765_18998766del, NC_000016.10:g.18998766del, NC_000016.10:g.18998766dup, NC_000016.9:g.19010082_19010088del, NC_000016.9:g.19010086_19010088del, NC_000016.9:g.19010087_19010088del, NC_000016.9:g.19010088del, NC_000016.9:g.19010088dup

Select item 149103994719.

rs1491039947 has merged into rs35738895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:19017679 (GRCh38)
16:19029001 (GRCh37)
Canonical SPDI:: NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:19017667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0828/319 (ALSPAC)
-=0.0944/350 (TWINSUK)
-=0.3299/1652 (1000Genomes)
HGVS:: NC_000016.10:g.19017679_19017687del, NC_000016.10:g.19017680_19017687del, NC_000016.10:g.19017681_19017687del, NC_000016.10:g.19017682_19017687del, NC_000016.10:g.19017683_19017687del, NC_000016.10:g.19017684_19017687del, NC_000016.10:g.19017685_19017687del, NC_000016.10:g.19017686_19017687del, NC_000016.10:g.19017687del, NC_000016.10:g.19017687dup, NC_000016.10:g.19017686_19017687dup, NC_000016.10:g.19017685_19017687dup, NC_000016.10:g.19017684_19017687dup, NC_000016.10:g.19017683_19017687dup, NC_000016.10:g.19017682_19017687dup, NC_000016.9:g.19029001_19029009del, NC_000016.9:g.19029002_19029009del, NC_000016.9:g.19029003_19029009del, NC_000016.9:g.19029004_19029009del, NC_000016.9:g.19029005_19029009del, NC_000016.9:g.19029006_19029009del, NC_000016.9:g.19029007_19029009del, NC_000016.9:g.19029008_19029009del, NC_000016.9:g.19029009del, NC_000016.9:g.19029009dup, NC_000016.9:g.19029008_19029009dup, NC_000016.9:g.19029007_19029009dup, NC_000016.9:g.19029006_19029009dup, NC_000016.9:g.19029005_19029009dup, NC_000016.9:g.19029004_19029009dup

Select item 149101866120.

rs1491018661 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:19017687 (GRCh38)
16:19029009 (GRCh37)
Canonical SPDI:: NC_000016.10:19017686:TG:
Gene:: TMC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.19017687_19017688del, NC_000016.9:g.19029009_19029010del

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