SNP Links for Gene (Select 101929470) - SNP

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Select item 14914729631.

rs1491472963 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:29823004 (GRCh38)
8:29680520 (GRCh37)
Canonical SPDI:: NC_000008.11:29823003:TG:
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.29823004_29823005del, NC_000008.10:g.29680520_29680521del

Select item 14912919862.

rs1491291986 has merged into rs1245116238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC [Show Flanks]
Chromosome:: 8:29820022 (GRCh38)
8:29677538 (GRCh37)
Canonical SPDI:: NC_000008.11:29820015:ACACACACAC:ACACAC,NC_000008.11:29820015:ACACACACAC:ACACACAC
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACAC=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000792/109 (GnomAD)
HGVS:: NC_000008.11:g.29820016AC[3], NC_000008.11:g.29820016AC[4], NC_000008.10:g.29677532AC[3], NC_000008.10:g.29677532AC[4]

Select item 14911006363.

rs1491100636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGCACACACA [Show Flanks]
Chromosome:: 8:29820016 (GRCh38)
8:29677533 (GRCh37)
Canonical SPDI:: NC_000008.11:29820016:CACACACA:CACACACAATGCACACACA
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACAATGCACACACA=0./0 (ALFA)
CACACACAATG=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.29820017_29820024CA[4]ATGCACACACA[1], NC_000008.10:g.29677533_29677540CA[4]ATGCACACACA[1]

Select item 14910285404.

rs1491028540 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:29824265 (GRCh38)
8:29681781 (GRCh37)
Canonical SPDI:: NC_000008.11:29824263:AGA:A
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000212/4 (TOMMO)
-=0.000346/48 (GnomAD)
-=0.008188/15 (Korea1K)
HGVS:: NC_000008.11:g.29824265_29824266del, NC_000008.10:g.29681781_29681782del

Select item 14909402235.

rs1490940223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:29819246 (GRCh38)
8:29676762 (GRCh37)
Canonical SPDI:: NC_000008.11:29819245:C:A,NC_000008.11:29819245:C:T
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.29819246C>A, NC_000008.11:g.29819246C>T, NC_000008.10:g.29676762C>A, NC_000008.10:g.29676762C>T

Select item 14907442306.

rs1490744230 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 8:29820149 (GRCh38)
8:29677665 (GRCh37)
Canonical SPDI:: NC_000008.11:29820141:CACACACAC:CACACAC
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACAC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.29820143AC[3], NC_000008.10:g.29677659AC[3]

Select item 14906552487.

rs1490655248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:29827170 (GRCh38)
8:29684686 (GRCh37)
Canonical SPDI:: NC_000008.11:29827169:C:A
Gene:: LOC101929470 (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.29827170C>A, NC_000008.10:g.29684686C>A

Select item 14903218098.

rs1490321809 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:29826019 (GRCh38)
8:29683535 (GRCh37)
Canonical SPDI:: NC_000008.11:29826018:G:
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.29826019del, NC_000008.10:g.29683535del

Select item 14902934759.

rs1490293475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29826268 (GRCh38)
8:29683784 (GRCh37)
Canonical SPDI:: NC_000008.11:29826267:C:T
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.29826268C>T, NC_000008.10:g.29683784C>T

Select item 148972631310.

rs1489726313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29817117 (GRCh38)
8:29674633 (GRCh37)
Canonical SPDI:: NC_000008.11:29817116:C:T
Gene:: LOC101929470 (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.29817117C>T, NC_000008.10:g.29674633C>T

Select item 148958675311.

rs1489586753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:29829341 (GRCh38)
8:29686857 (GRCh37)
Canonical SPDI:: NC_000008.11:29829340:G:A
Gene:: LOC101929470 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.29829341G>A, NC_000008.10:g.29686857G>A

Select item 148934007412.

rs1489340074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:29830324 (GRCh38)
8:29687840 (GRCh37)
Canonical SPDI:: NC_000008.11:29830323:T:C
Gene:: LOC101929470 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.29830324T>C, NC_000008.10:g.29687840T>C

Select item 148915582613.

rs1489155826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:29820893 (GRCh38)
8:29678409 (GRCh37)
Canonical SPDI:: NC_000008.11:29820892:G:A
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.29820893G>A, NC_000008.10:g.29678409G>A

Select item 148905858514.

rs1489058585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29820507 (GRCh38)
8:29678023 (GRCh37)
Canonical SPDI:: NC_000008.11:29820506:C:T
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000072/1 (GnomAD)
HGVS:: NC_000008.11:g.29820507C>T, NC_000008.10:g.29678023C>T

Select item 148891945115.

rs1488919451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:29824832 (GRCh38)
8:29682348 (GRCh37)
Canonical SPDI:: NC_000008.11:29824831:C:A
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.29824832C>A, NC_000008.10:g.29682348C>A

Select item 148875575616.

rs1488755756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:29821255 (GRCh38)
8:29678771 (GRCh37)
Canonical SPDI:: NC_000008.11:29821254:A:G
Gene:: LOC101929470 (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.29821255A>G, NC_000008.10:g.29678771A>G

Select item 148875241517.

rs1488752415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:29821955 (GRCh38)
8:29679471 (GRCh37)
Canonical SPDI:: NC_000008.11:29821954:G:A,NC_000008.11:29821954:G:T
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.29821955G>A, NC_000008.11:g.29821955G>T, NC_000008.10:g.29679471G>A, NC_000008.10:g.29679471G>T

Select item 148867938718.

rs1488679387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:29820217 (GRCh38)
8:29677734 (GRCh37)
Canonical SPDI:: NC_000008.11:29820217:CC:CCC
Gene:: LOC101929470 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000039/5 (GnomAD)
HGVS:: NC_000008.11:g.29820219dup, NC_000008.10:g.29677735dup

Select item 148859865819.

rs1488598658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:29829790 (GRCh38)
8:29687306 (GRCh37)
Canonical SPDI:: NC_000008.11:29829789:C:A
Gene:: LOC101929470 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.29829790C>A, NC_000008.10:g.29687306C>A

Select item 148798850520.

rs1487988505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:29815737 (GRCh38)
8:29673253 (GRCh37)
Canonical SPDI:: NC_000008.11:29815736:A:G
Gene:: LOC101929470 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.29815737A>G, NC_000008.10:g.29673253A>G, NR_125817.1:n.1134T>C

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