SNP Links for Gene (Select 101927723) - SNP

Links from Gene

Items: 1 to 20 of 2591

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Select item 14912674961.

rs1491267496 has merged into rs11338240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:68367264 (GRCh38)
2:68594396 (GRCh37)
Canonical SPDI:: NC_000002.12:68367253:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:68367253:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:68367253:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:68367253:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:68367253:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0.0006/3 (ALFA)
T=0.3203/1604 (1000Genomes)
HGVS:: NC_000002.12:g.68367264_68367265del, NC_000002.12:g.68367265del, NC_000002.12:g.68367265dup, NC_000002.12:g.68367264_68367265dup, NC_000002.12:g.68367260_68367265dup, NC_000002.11:g.68594396_68594397del, NC_000002.11:g.68594397del, NC_000002.11:g.68594397dup, NC_000002.11:g.68594396_68594397dup, NC_000002.11:g.68594392_68594397dup

Select item 14908438752.

rs1490843875 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:68365391 (GRCh38)
2:68592523 (GRCh37)
Canonical SPDI:: NC_000002.12:68365390:AA:A
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.68365392del, NC_000002.11:g.68592524del, NM_002664.3:c.41del, NM_002664.2:c.41del, XM_047444772.1:c.41del, NP_002655.2:p.Lys14fs, XP_047300728.1:p.Lys14fs

Select item 14908220503.

rs1490822050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:68364335 (GRCh38)
2:68591467 (GRCh37)
Canonical SPDI:: NC_000002.12:68364334:C:A,NC_000002.12:68364334:C:G
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.68364335C>A, NC_000002.12:g.68364335C>G, NC_000002.11:g.68591467C>A, NC_000002.11:g.68591467C>G

Select item 14906288984.

rs1490628898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:68372037 (GRCh38)
2:68599169 (GRCh37)
Canonical SPDI:: NC_000002.12:68372036:G:A
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.68372037G>A, NC_000002.11:g.68599169G>A

Select item 14906136845.

rs1490613684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:68372153 (GRCh38)
2:68599285 (GRCh37)
Canonical SPDI:: NC_000002.12:68372152:A:G
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68372153A>G, NC_000002.11:g.68599285A>G

Select item 14905526356.

rs1490552635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:68364871 (GRCh38)
2:68592003 (GRCh37)
Canonical SPDI:: NC_000002.12:68364870:G:A,NC_000002.12:68364870:G:C
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68364871G>A, NC_000002.12:g.68364871G>C, NC_000002.11:g.68592003G>A, NC_000002.11:g.68592003G>C

Select item 14900408397.

rs1490040839 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:68368256 (GRCh38)
2:68595389 (GRCh37)
Canonical SPDI:: NC_000002.12:68368256::G
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.68368256_68368257insG, NC_000002.11:g.68595388_68595389insG

Select item 14896158478.

rs1489615847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:68366339 (GRCh38)
2:68593471 (GRCh37)
Canonical SPDI:: NC_000002.12:68366338:G:A
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.68366339G>A, NC_000002.11:g.68593471G>A, XR_245020.4:n.66C>T, XR_245020.3:n.4170C>T, XR_245020.2:n.4167C>T

Select item 14894558169.

rs1489455816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:68371223 (GRCh38)
2:68598355 (GRCh37)
Canonical SPDI:: NC_000002.12:68371222:C:G,NC_000002.12:68371222:C:T
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.68371223C>G, NC_000002.12:g.68371223C>T, NC_000002.11:g.68598355C>G, NC_000002.11:g.68598355C>T

Select item 148942482210.

rs1489424822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:68370195 (GRCh38)
2:68597327 (GRCh37)
Canonical SPDI:: NC_000002.12:68370194:C:T
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68370195C>T, NC_000002.11:g.68597327C>T

Select item 148941552511.

rs1489415525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:68363349 (GRCh38)
2:68590481 (GRCh37)
Canonical SPDI:: NC_000002.12:68363348:A:G
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.68363349A>G, NC_000002.11:g.68590481A>G

Select item 148930628012.

rs1489306280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:68369277 (GRCh38)
2:68596409 (GRCh37)
Canonical SPDI:: NC_000002.12:68369276:G:T
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.68369277G>T, NC_000002.11:g.68596409G>T

Select item 148847622613.

rs1488476226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:68370753 (GRCh38)
2:68597885 (GRCh37)
Canonical SPDI:: NC_000002.12:68370752:T:A
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.68370753T>A, NC_000002.11:g.68597885T>A

Select item 148844534014.

rs1488445340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:68369681 (GRCh38)
2:68596813 (GRCh37)
Canonical SPDI:: NC_000002.12:68369680:C:T
Gene:: PLEK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.68369681C>T, NC_000002.11:g.68596813C>T

Select item 148825145015.

rs1488251450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:68363885 (GRCh38)
2:68591017 (GRCh37)
Canonical SPDI:: NC_000002.12:68363884:G:A
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.68363885G>A, NC_000002.11:g.68591017G>A

Select item 148764577116.

rs1487645771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:68362920 (GRCh38)
2:68590052 (GRCh37)
Canonical SPDI:: NC_000002.12:68362919:C:T
Gene:: LOC101927723 (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_000002.12:g.68362920C>T, NC_000002.11:g.68590052C>T

Select item 148734702317.

rs1487347023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:68371527 (GRCh38)
2:68598659 (GRCh37)
Canonical SPDI:: NC_000002.12:68371526:C:T
Gene:: PLEK (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_000002.12:g.68371527C>T, NC_000002.11:g.68598659C>T

Select item 148731920818.

rs1487319208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:68364431 (GRCh38)
2:68591563 (GRCh37)
Canonical SPDI:: NC_000002.12:68364430:G:A
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.68364431G>A, NC_000002.11:g.68591563G>A

Select item 148726919319.

rs1487269193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:68363432 (GRCh38)
2:68590564 (GRCh37)
Canonical SPDI:: NC_000002.12:68363431:C:G,NC_000002.12:68363431:C:T
Gene:: PLEK (Varview), LOC101927723 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.68363432C>G, NC_000002.12:g.68363432C>T, NC_000002.11:g.68590564C>G, NC_000002.11:g.68590564C>T

Select item 148695426620.

rs1486954266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:68362091 (GRCh38)
2:68589223 (GRCh37)
Canonical SPDI:: NC_000002.12:68362090:A:G
Gene:: LOC101927723 (Varview)
Functional Consequence:: non_coding_transcript_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.68362091A>G, NC_000002.11:g.68589223A>G, XR_245020.4:n.1359T>C, XR_245020.3:n.5463T>C, XR_245020.2:n.5460T>C, XR_245020.1:n.648T>C

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