SNP Links for Gene (Select 105373551) - SNP

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Select item 14909683681.

rs1490968368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:110328363 (GRCh38)
2:111085940 (GRCh37)
Canonical SPDI:: NC_000002.12:110328362:C:A
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.110328363C>A, NC_000002.11:g.111085940C>A, XR_007087171.1:n.1086C>A

Select item 14908766962.

rs1490876696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110329900 (GRCh38)
2:111087477 (GRCh37)
Canonical SPDI:: NC_000002.12:110329899:C:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.110329900C>T, NC_000002.11:g.111087477C>T

Select item 14907673443.

rs1490767344 has merged into rs770618348 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:110332951 (GRCh38)
2:111090528 (GRCh37)
Canonical SPDI:: NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110332938:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000002.12:g.110332951_110332960del, NC_000002.12:g.110332952_110332960del, NC_000002.12:g.110332954_110332960del, NC_000002.12:g.110332955_110332960del, NC_000002.12:g.110332956_110332960del, NC_000002.12:g.110332958_110332960del, NC_000002.12:g.110332959_110332960del, NC_000002.12:g.110332960del, NC_000002.12:g.110332960dup, NC_000002.12:g.110332959_110332960dup, NC_000002.12:g.110332958_110332960dup, NC_000002.12:g.110332957_110332960dup, NC_000002.12:g.110332956_110332960dup, NC_000002.12:g.110332955_110332960dup, NC_000002.11:g.111090528_111090537del, NC_000002.11:g.111090529_111090537del, NC_000002.11:g.111090531_111090537del, NC_000002.11:g.111090532_111090537del, NC_000002.11:g.111090533_111090537del, NC_000002.11:g.111090535_111090537del, NC_000002.11:g.111090536_111090537del, NC_000002.11:g.111090537del, NC_000002.11:g.111090537dup, NC_000002.11:g.111090536_111090537dup, NC_000002.11:g.111090535_111090537dup, NC_000002.11:g.111090534_111090537dup, NC_000002.11:g.111090533_111090537dup, NC_000002.11:g.111090532_111090537dup

Select item 14907427084.

rs1490742708 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:110333585 (GRCh38)
2:111091163 (GRCh37)
Canonical SPDI:: NC_000002.12:110333585::T
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.110333585_110333586insT, NC_000002.11:g.111091162_111091163insT

Select item 14906749805.

rs1490674980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:110331748 (GRCh38)
2:111089325 (GRCh37)
Canonical SPDI:: NC_000002.12:110331747:A:G
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.110331748A>G, NC_000002.11:g.111089325A>G, XR_007087171.1:n.3291A>G

Select item 14904005076.

rs1490400507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110326858 (GRCh38)
2:111084435 (GRCh37)
Canonical SPDI:: NC_000002.12:110326857:G:A
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_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_000002.12:g.110326858G>A, NC_000002.11:g.111084435G>A, XR_007087171.1:n.221G>A

Select item 14903690337.

rs1490369033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:110327819 (GRCh38)
2:111085396 (GRCh37)
Canonical SPDI:: NC_000002.12:110327818:G:C
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.110327819G>C, NC_000002.11:g.111085396G>C

Select item 14902333698.

rs1490233369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110326517 (GRCh38)
2:111084094 (GRCh37)
Canonical SPDI:: NC_000002.12:110326516:G:A
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.110326517G>A, NC_000002.11:g.111084094G>A

Select item 14900107639.

rs1490010763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110324468 (GRCh38)
2:111082045 (GRCh37)
Canonical SPDI:: NC_000002.12:110324467:C:T
Gene:: LOC124906060 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.110324468C>T, NC_000002.11:g.111082045C>T, XR_007088648.1:n.545C>T

Select item 148998528010.

rs1489985280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:110326541 (GRCh38)
2:111084118 (GRCh37)
Canonical SPDI:: NC_000002.12:110326540:T:C
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.110326541T>C, NC_000002.11:g.111084118T>C

Select item 148977987011.

rs1489779870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:110332117 (GRCh38)
2:111089694 (GRCh37)
Canonical SPDI:: NC_000002.12:110332116:A:G
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.110332117A>G, NC_000002.11:g.111089694A>G

Select item 148968783612.

rs1489687836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:110329122 (GRCh38)
2:111086699 (GRCh37)
Canonical SPDI:: NC_000002.12:110329121:C:A,NC_000002.12:110329121:C:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.110329122C>A, NC_000002.12:g.110329122C>T, NC_000002.11:g.111086699C>A, NC_000002.11:g.111086699C>T, XR_007087171.1:n.1683C>A, XR_007087171.1:n.1683C>T

Select item 148947081713.

rs1489470817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:110331103 (GRCh38)
2:111088680 (GRCh37)
Canonical SPDI:: NC_000002.12:110331102:A:C
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.110331103A>C, NC_000002.11:g.111088680A>C, XR_007087171.1:n.3108A>C

Select item 148929379614.

rs1489293796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:110328747 (GRCh38)
2:111086324 (GRCh37)
Canonical SPDI:: NC_000002.12:110328746:G:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.110328747G>T, NC_000002.11:g.111086324G>T, XR_007087171.1:n.1308G>T

Select item 148922437515.

rs1489224375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:110325686 (GRCh38)
2:111083263 (GRCh37)
Canonical SPDI:: NC_000002.12:110325685:G:A,NC_000002.12:110325685:G:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.01171/75 (1000Genomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.110325686G>A, NC_000002.12:g.110325686G>T, NC_000002.11:g.111083263G>A, NC_000002.11:g.111083263G>T

Select item 148901524216.

rs1489015242 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:110332836 (GRCh38)
2:111090413 (GRCh37)
Canonical SPDI:: NC_000002.12:110332835:AAAAA:AAAA
Gene:: LOC105373551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.110332840del, NC_000002.11:g.111090417del

Select item 148887474517.

rs1488874745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:110333959 (GRCh38)
2:111091536 (GRCh37)
Canonical SPDI:: NC_000002.12:110333958:A:C,NC_000002.12:110333958:A:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.110333959A>C, NC_000002.12:g.110333959A>T, NC_000002.11:g.111091536A>C, NC_000002.11:g.111091536A>T, XR_007087171.1:n.3503A>C, XR_007087171.1:n.3503A>T

Select item 148878626418.

rs1488786264 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAATGTA [Show Flanks]
Chromosome:: 2:110325563 (GRCh38)
2:111083141 (GRCh37)
Canonical SPDI:: NC_000002.12:110325563::TAATGTA
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TAATGTA=0./0 (ALFA)
HGVS:: NC_000002.12:g.110325563_110325564insTAATGTA, NC_000002.11:g.111083140_111083141insTAATGTA

Select item 148872557619.

rs1488725576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:110325406 (GRCh38)
2:111082983 (GRCh37)
Canonical SPDI:: NC_000002.12:110325405:C:A,NC_000002.12:110325405:C:G,NC_000002.12:110325405:C:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.01312/38 (KOREAN)
HGVS:: NC_000002.12:g.110325406C>A, NC_000002.12:g.110325406C>G, NC_000002.12:g.110325406C>T, NC_000002.11:g.111082983C>A, NC_000002.11:g.111082983C>G, NC_000002.11:g.111082983C>T

Select item 148861122920.

rs1488611229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:110326016 (GRCh38)
2:111083593 (GRCh37)
Canonical SPDI:: NC_000002.12:110326015:G:T
Gene:: LOC105373551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.110326016G>T, NC_000002.11:g.111083593G>T

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