SNP Links for Gene (Select 101929551) - SNP

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Items: 1 to 20 of 3662

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Select item 14912289961.

rs1491228996 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 2:7892832 (GRCh38)
2:8032964 (GRCh37)
Canonical SPDI:: NC_000002.12:7892832::TTT
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TTT=0.0005/8 (TOMMO)
HGVS:: NC_000002.12:g.7892832_7892833insTTT, NC_000002.11:g.8032963_8032964insTTT

Select item 14909161502.

rs1490916150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:7895313 (GRCh38)
2:8035444 (GRCh37)
Canonical SPDI:: NC_000002.12:7895312:A:G
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.7895313A>G, NC_000002.11:g.8035444A>G

Select item 14901635313.

rs1490163531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:7894295 (GRCh38)
2:8034426 (GRCh37)
Canonical SPDI:: NC_000002.12:7894294:T:C
Gene:: LOC101929551 (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_000002.12:g.7894295T>C, NC_000002.11:g.8034426T>C

Select item 14899883324.

rs1489988332 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:7892341 (GRCh38)
2:8032473 (GRCh37)
Canonical SPDI:: NC_000002.12:7892341:TT:TTT
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.7892343dup, NC_000002.11:g.8032474dup

Select item 14895844675.

rs1489584467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:7897348 (GRCh38)
2:8037479 (GRCh37)
Canonical SPDI:: NC_000002.12:7897347:T:C,NC_000002.12:7897347:T:G
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.7897348T>C, NC_000002.12:g.7897348T>G, NC_000002.11:g.8037479T>C, NC_000002.11:g.8037479T>G

Select item 14891090676.

rs1489109067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:7898992 (GRCh38)
2:8039123 (GRCh37)
Canonical SPDI:: NC_000002.12:7898991:A:G
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.7898992A>G, NC_000002.11:g.8039123A>G

Select item 14889354797.

rs1488935479 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:7889202 (GRCh38)
2:8029333 (GRCh37)
Canonical SPDI:: NC_000002.12:7889201:G:
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.7889202del, NC_000002.11:g.8029333del

Select item 14885113268.

rs1488511326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:7890699 (GRCh38)
2:8030830 (GRCh37)
Canonical SPDI:: NC_000002.12:7890698:T:C
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.7890699T>C, NC_000002.11:g.8030830T>C

Select item 14881883019.

rs1488188301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:7890324 (GRCh38)
2:8030455 (GRCh37)
Canonical SPDI:: NC_000002.12:7890323:A:G
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.7890324A>G, NC_000002.11:g.8030455A>G

Select item 148791549210.

rs1487915492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:7894466 (GRCh38)
2:8034597 (GRCh37)
Canonical SPDI:: NC_000002.12:7894465:C:A
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.7894466C>A, NC_000002.11:g.8034597C>A

Select item 148772232911.

rs1487722329 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 2:7890878 (GRCh38)
2:8031009 (GRCh37)
Canonical SPDI:: NC_000002.12:7890876:GGAG:G
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000002.12:g.7890878_7890880del, NC_000002.11:g.8031009_8031011del

Select item 148734462012.

rs1487344620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:7896401 (GRCh38)
2:8036532 (GRCh37)
Canonical SPDI:: NC_000002.12:7896400:C:A
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_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_000002.12:g.7896401C>A, NC_000002.11:g.8036532C>A

Select item 148723424313.

rs1487234243 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:7892574 (GRCh38)
2:8032705 (GRCh37)
Canonical SPDI:: NC_000002.12:7892568:TTTTTTT:TTTTT,NC_000002.12:7892568:TTTTTTT:TTTTTT,NC_000002.12:7892568:TTTTTTT:TTTTTTTT
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0001/14 (GnomAD)
HGVS:: NC_000002.12:g.7892574_7892575del, NC_000002.12:g.7892575del, NC_000002.12:g.7892575dup, NC_000002.11:g.8032705_8032706del, NC_000002.11:g.8032706del, NC_000002.11:g.8032706dup

Select item 148688409914.

rs1486884099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:7897269 (GRCh38)
2:8037400 (GRCh37)
Canonical SPDI:: NC_000002.12:7897268:A:G,NC_000002.12:7897268:A:T
Gene:: LOC101929551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.7897269A>G, NC_000002.12:g.7897269A>T, NC_000002.11:g.8037400A>G, NC_000002.11:g.8037400A>T

Select item 148677459115.

rs1486774591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:7888962 (GRCh38)
2:8029094 (GRCh37)
Canonical SPDI:: NC_000002.12:7888962:C:CC
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.7888963dup, NC_000002.11:g.8029094dup

Select item 148670013016.

rs1486700130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:7886519 (GRCh38)
2:8026650 (GRCh37)
Canonical SPDI:: NC_000002.12:7886518:G:A
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.7886519G>A, NC_000002.11:g.8026650G>A

Select item 148657484817.

rs1486574848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:7889289 (GRCh38)
2:8029420 (GRCh37)
Canonical SPDI:: NC_000002.12:7889288:A:G
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_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_000002.12:g.7889289A>G, NC_000002.11:g.8029420A>G

Select item 148621417318.

rs1486214173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:7889420 (GRCh38)
2:8029551 (GRCh37)
Canonical SPDI:: NC_000002.12:7889419:G:A,NC_000002.12:7889419:G:T
Gene:: LOC101929551 (Varview), LOC105373409 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.7889420G>A, NC_000002.12:g.7889420G>T, NC_000002.11:g.8029551G>A, NC_000002.11:g.8029551G>T

Select item 148619188919.

rs1486191889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:7899936 (GRCh38)
2:8040067 (GRCh37)
Canonical SPDI:: NC_000002.12:7899935:G:C
Gene:: LOC101929551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/1 (Korea1K)
HGVS:: NC_000002.12:g.7899936G>C, NC_000002.11:g.8040067G>C

Select item 148601852920.

rs1486018529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTTAGGAGGCCA [Show Flanks]
Chromosome:: 2:7900733 (GRCh38)
2:8040865 (GRCh37)
Canonical SPDI:: NC_000002.12:7900733:AGGAGGCCATGTTAGGAGGCCA:AGGAGGCCATGTTAGGAGGCCATGTTAGGAGGCCA
Gene:: LOC101929551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGGAGGCCATGTTAGGAGGCCATGTTAGGAGGCCA=0.000084/1 (ALFA)
AGGAGGCCATGTT=0.00015/21 (GnomAD)
HGVS:: NC_000002.12:g.7900743_7900755dup, NC_000002.11:g.8040874_8040886dup

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