SNP Links for Gene (Select 100129098) - SNP

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Items: 1 to 20 of 2022

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Select item 14915439391.

rs1491543939 has merged into rs137914276 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTCTTTCTTT>-,CTTT,CTTTCTTT,CTTTCTTTCTTTCTTT,CTTTCTTTCTTTCTTTCTTT [Show Flanks]
Chromosome:: 8:54468901 (GRCh38)
8:55381461 (GRCh37)
Canonical SPDI:: NC_000008.11:54468889:TTTCTTTCTTTCTTTCTTTCTTT:TTTCTTTCTTT,NC_000008.11:54468889:TTTCTTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTT,NC_000008.11:54468889:TTTCTTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTT,NC_000008.11:54468889:TTTCTTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTTCTTTCTTT,NC_000008.11:54468889:TTTCTTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT=0./0 (ALFA)
-=0.042/162 (ALSPAC)
-=0.145/87 (NorthernSweden)
HGVS:: NC_000008.11:g.54468893CTTT[2], NC_000008.11:g.54468893CTTT[3], NC_000008.11:g.54468893CTTT[4], NC_000008.11:g.54468893CTTT[6], NC_000008.11:g.54468893CTTT[7], NC_000008.10:g.55381453CTTT[2], NC_000008.10:g.55381453CTTT[3], NC_000008.10:g.55381453CTTT[4], NC_000008.10:g.55381453CTTT[6], NC_000008.10:g.55381453CTTT[7]

Select item 14913629982.

rs1491362998 has merged into rs5891532 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 8:54466174 (GRCh38)
8:55378734 (GRCh37)
Canonical SPDI:: NC_000008.11:54466167:AAAAAAAA:AAAAAA,NC_000008.11:54466167:AAAAAAAA:AAAAAAA,NC_000008.11:54466167:AAAAAAAA:AAAAAAAAA
Gene:: LOC100129098 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.256513/256 (GoNL)
-=0.276667/166 (NorthernSweden)
-=0.277455/1243 (Estonian)
-=0.304881/80699 (TOPMED)
-=0.35/14 (GENOME_DK)
-=0.352236/1764 (1000Genomes)
-=0.485981/104 (Vietnamese)
HGVS:: NC_000008.11:g.54466174_54466175del, NC_000008.11:g.54466175del, NC_000008.11:g.54466175dup, NC_000008.10:g.55378734_55378735del, NC_000008.10:g.55378735del, NC_000008.10:g.55378735dup, XM_041680557.1:c.*619_*620del, XM_041680557.1:c.*620del, XM_041680557.1:c.*620dup

Select item 14897191953.

rs1489719195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:54467727 (GRCh38)
8:55380287 (GRCh37)
Canonical SPDI:: NC_000008.11:54467726:T:C
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54467727T>C, NC_000008.10:g.55380287T>C

Select item 14894452804.

rs1489445280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:54468975 (GRCh38)
8:55381535 (GRCh37)
Canonical SPDI:: NC_000008.11:54468974:T:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.54468975T>A, NC_000008.10:g.55381535T>A

Select item 14892235535.

rs1489223553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54470461 (GRCh38)
8:55383021 (GRCh37)
Canonical SPDI:: NC_000008.11:54470460:C:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.54470461C>T, NC_000008.10:g.55383021C>T

Select item 14890574266.

rs1489057426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:54468597 (GRCh38)
8:55381157 (GRCh37)
Canonical SPDI:: NC_000008.11:54468596:C:A,NC_000008.11:54468596:C:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54468597C>A, NC_000008.11:g.54468597C>T, NC_000008.10:g.55381157C>A, NC_000008.10:g.55381157C>T

Select item 14886503657.

rs1488650365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54471841 (GRCh38)
8:55384401 (GRCh37)
Canonical SPDI:: NC_000008.11:54471840:G:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.54471841G>A, NC_000008.10:g.55384401G>A

Select item 14884736268.

rs1488473626 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:54468905 (GRCh38)
8:55381465 (GRCh37)
Canonical SPDI:: NC_000008.11:54468904:C:
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000355/6 (TOMMO)
-=0.000812/100 (GnomAD)
HGVS:: NC_000008.11:g.54468905del, NC_000008.10:g.55381465del

Select item 14878169149.

rs1487816914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:54469280 (GRCh38)
8:55381840 (GRCh37)
Canonical SPDI:: NC_000008.11:54469279:C:A,NC_000008.11:54469279:C:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.54469280C>A, NC_000008.11:g.54469280C>T, NC_000008.10:g.55381840C>A, NC_000008.10:g.55381840C>T

Select item 148777872310.

rs1487778723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54469005 (GRCh38)
8:55381565 (GRCh37)
Canonical SPDI:: NC_000008.11:54469004:C:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00135/22 (ALFA)
T=0.00958/28 (KOREAN)
HGVS:: NC_000008.11:g.54469005C>T, NC_000008.10:g.55381565C>T

Select item 148742326911.

rs1487423269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:54468903 (GRCh38)
8:55381463 (GRCh37)
Canonical SPDI:: NC_000008.11:54468902:T:C,NC_000008.11:54468902:T:G
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54468903T>C, NC_000008.11:g.54468903T>G, NC_000008.10:g.55381463T>C, NC_000008.10:g.55381463T>G

Select item 148666519312.

rs1486665193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54467617 (GRCh38)
8:55380177 (GRCh37)
Canonical SPDI:: NC_000008.11:54467616:G:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.54467617G>A, NC_000008.10:g.55380177G>A

Select item 148657393213.

rs1486573932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54467123 (GRCh38)
8:55379683 (GRCh37)
Canonical SPDI:: NC_000008.11:54467122:G:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000008.11:g.54467123G>A, NC_000008.10:g.55379683G>A, XM_041680557.1:c.874C>T, XP_041536491.1:p.Arg292Ter

Select item 148625113414.

rs1486251134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54466921 (GRCh38)
8:55379481 (GRCh37)
Canonical SPDI:: NC_000008.11:54466920:G:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.54466921G>A, NC_000008.10:g.55379481G>A, XM_041680557.1:c.1076C>T, XP_041536491.1:p.Pro359Leu

Select item 148617879215.

rs1486178792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:54469696 (GRCh38)
8:55382256 (GRCh37)
Canonical SPDI:: NC_000008.11:54469695:A:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.54469696A>T, NC_000008.10:g.55382256A>T

Select item 148578879116.

rs1485788791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTTTCTTTCTTT>- [Show Flanks]
Chromosome:: 8:54468966 (GRCh38)
8:55381526 (GRCh37)
Canonical SPDI:: NC_000008.11:54468964:TTTCTTTCTTTCTTT:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00006/6 (GnomAD)
HGVS:: NC_000008.11:g.54468966_54468979del, NC_000008.10:g.55381526_55381539del

Select item 148564556317.

rs1485645563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54471471 (GRCh38)
8:55384031 (GRCh37)
Canonical SPDI:: NC_000008.11:54471470:G:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54471471G>A, NC_000008.10:g.55384031G>A

Select item 148563364918.

rs1485633649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:54465658 (GRCh38)
8:55378218 (GRCh37)
Canonical SPDI:: NC_000008.11:54465657:T:C
Gene:: LOC100129098 (Varview)
Functional Consequence:: 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_000008.11:g.54465658T>C, NC_000008.10:g.55378218T>C, XM_041680557.1:c.*1130A>G

Select item 148551049619.

rs1485510496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54470501 (GRCh38)
8:55383061 (GRCh37)
Canonical SPDI:: NC_000008.11:54470500:C:T
Gene:: LOC100129098 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000008.11:g.54470501C>T, NC_000008.10:g.55383061C>T

Select item 148461187420.

rs1484611874 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:54468784 (GRCh38)
8:55381344 (GRCh37)
Canonical SPDI:: NC_000008.11:54468782:ACA:A
Gene:: LOC100129098 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.54468784_54468785del, NC_000008.10:g.55381344_55381345del

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