SNP Links for Gene (Select 79156) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 2898

<< First< Prev

Page of 145

Next >Last >>

Select item 14907186481.

rs1490718648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:29667642 (GRCh38)
19:30158549 (GRCh37)
Canonical SPDI:: NC_000019.10:29667641:A:C
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00814/133 (ALFA)
C=0.0071/13 (Korea1K)
C=0.00814/136 (TOMMO)
C=0.0178/52 (KOREAN)
HGVS:: NC_000019.10:g.29667642A>C, NC_000019.9:g.30158549A>C

Select item 14905010102.

rs1490501010 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACCCCACTGAAGAGCCTGAG>- [Show Flanks]
Chromosome:: 19:29675081 (GRCh38)
19:30165988 (GRCh37)
Canonical SPDI:: NC_000019.10:29675078:AGGCACACCCCACTGAAGAGCCTGAG:AG
Gene:: PLEKHF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29675081_29675104del, NC_000019.9:g.30165988_30166011del, NM_024310.5:c.*402_*425del, NM_024310.4:c.*402_*425del, XM_011527309.4:c.*402_*425del, XM_011527309.3:c.*402_*425del, XM_011527309.2:c.*402_*425del, XM_011527309.1:c.*402_*425del, XM_005259256.4:c.*402_*425del, XM_005259256.3:c.*402_*425del, XM_005259256.2:c.*402_*425del, XM_005259256.1:c.*402_*425del

Select item 14902741493.

rs1490274149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:29665551 (GRCh38)
19:30156458 (GRCh37)
Canonical SPDI:: NC_000019.10:29665550:A:T
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29665551A>T, NC_000019.9:g.30156458A>T, XM_005259256.4:c.-6A>T, XM_005259256.3:c.-6A>T, XM_005259256.2:c.-6A>T, XM_005259256.1:c.-6A>T

Select item 14901737224.

rs1490173722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:29674253 (GRCh38)
19:30165160 (GRCh37)
Canonical SPDI:: NC_000019.10:29674252:C:A,NC_000019.10:29674252:C:T
Gene:: PLEKHF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.29674253C>A, NC_000019.10:g.29674253C>T, NC_000019.9:g.30165160C>A, NC_000019.9:g.30165160C>T, NM_024310.5:c.414C>A, NM_024310.5:c.414C>T, NM_024310.4:c.414C>A, NM_024310.4:c.414C>T, XM_011527309.4:c.414C>A, XM_011527309.4:c.414C>T, XM_011527309.3:c.414C>A, XM_011527309.3:c.414C>T, XM_011527309.2:c.414C>A, XM_011527309.2:c.414C>T, XM_011527309.1:c.414C>A, XM_011527309.1:c.414C>T, XM_005259256.4:c.669C>A, XM_005259256.4:c.669C>T, XM_005259256.3:c.669C>A, XM_005259256.3:c.669C>T, XM_005259256.2:c.669C>A, XM_005259256.2:c.669C>T, XM_005259256.1:c.669C>A, XM_005259256.1:c.669C>T

Select item 14899302105.

rs1489930210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:29673973 (GRCh38)
19:30164880 (GRCh37)
Canonical SPDI:: NC_000019.10:29673972:A:T
Gene:: PLEKHF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.29673973A>T, NC_000019.9:g.30164880A>T, NM_024310.5:c.134A>T, NM_024310.4:c.134A>T, XM_011527309.4:c.134A>T, XM_011527309.3:c.134A>T, XM_011527309.2:c.134A>T, XM_011527309.1:c.134A>T, XM_005259256.4:c.389A>T, XM_005259256.3:c.389A>T, XM_005259256.2:c.389A>T, XM_005259256.1:c.389A>T, NP_077286.3:p.Glu45Val, XP_011525611.1:p.Glu45Val, XP_005259313.1:p.Glu130Val

Select item 14897119106.

rs1489711910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:29666556 (GRCh38)
19:30157463 (GRCh37)
Canonical SPDI:: NC_000019.10:29666555:G:T
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.29666556G>T, NC_000019.9:g.30157463G>T, XM_011527309.4:c.-641G>T, XM_011527309.3:c.-641G>T, XM_011527309.2:c.-641G>T, XM_011527309.1:c.-641G>T

Select item 14893132537.

rs1489313253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:29665998 (GRCh38)
19:30156905 (GRCh37)
Canonical SPDI:: NC_000019.10:29665997:G:T
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.29665998G>T, NC_000019.9:g.30156905G>T, XM_011527309.4:c.-1199G>T, XM_011527309.3:c.-1199G>T, XM_011527309.2:c.-1199G>T, XM_011527309.1:c.-1199G>T

Select item 14887065908.

rs1488706590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29670802 (GRCh38)
19:30161709 (GRCh37)
Canonical SPDI:: NC_000019.10:29670801:C:T
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.29670802C>T, NC_000019.9:g.30161709C>T

Select item 14885235059.

rs1488523505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:29666094 (GRCh38)
19:30157001 (GRCh37)
Canonical SPDI:: NC_000019.10:29666093:G:A,NC_000019.10:29666093:G:C,NC_000019.10:29666093:G:T
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.29666094G>A, NC_000019.10:g.29666094G>C, NC_000019.10:g.29666094G>T, NC_000019.9:g.30157001G>A, NC_000019.9:g.30157001G>C, NC_000019.9:g.30157001G>T, XM_011527309.4:c.-1103G>A, XM_011527309.4:c.-1103G>C, XM_011527309.4:c.-1103G>T, XM_011527309.3:c.-1103G>A, XM_011527309.3:c.-1103G>C, XM_011527309.3:c.-1103G>T, XM_011527309.2:c.-1103G>A, XM_011527309.2:c.-1103G>C, XM_011527309.2:c.-1103G>T, XM_011527309.1:c.-1103G>A, XM_011527309.1:c.-1103G>C, XM_011527309.1:c.-1103G>T

Select item 148801423410.

rs1488014234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29666180 (GRCh38)
19:30157087 (GRCh37)
Canonical SPDI:: NC_000019.10:29666179:G:A
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.29666180G>A, NC_000019.9:g.30157087G>A, XM_011527309.4:c.-1017G>A, XM_011527309.3:c.-1017G>A, XM_011527309.2:c.-1017G>A, XM_011527309.1:c.-1017G>A

Select item 148784028211.

rs1487840282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29665528 (GRCh38)
19:30156435 (GRCh37)
Canonical SPDI:: NC_000019.10:29665527:G:A
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.29665528G>A, NC_000019.9:g.30156435G>A, XM_005259256.4:c.-29G>A, XM_005259256.3:c.-29G>A, XM_005259256.2:c.-29G>A, XM_005259256.1:c.-29G>A

Select item 148781853312.

rs1487818533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29664515 (GRCh38)
19:30155422 (GRCh37)
Canonical SPDI:: NC_000019.10:29664514:G:A
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.29664515G>A, NC_000019.9:g.30155422G>A

Select item 148765775813.

rs1487657758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:29668942 (GRCh38)
19:30159849 (GRCh37)
Canonical SPDI:: NC_000019.10:29668941:G:C
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.29668942G>C, NC_000019.9:g.30159849G>C

Select item 148753866814.

rs1487538668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:29672817 (GRCh38)
19:30163724 (GRCh37)
Canonical SPDI:: NC_000019.10:29672816:G:C
Gene:: PLEKHF1 (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_000019.10:g.29672817G>C, NC_000019.9:g.30163724G>C

Select item 148729649115.

rs1487296491 has merged into rs5827666 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:29673392 (GRCh38)
19:30164299 (GRCh37)
Canonical SPDI:: NC_000019.10:29673391:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:29673391:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:29673391:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:29673391:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.000099/1 (ALFA)
-=0.183333/110 (NorthernSweden)
-=0.244489/244 (GoNL)
-=0.342038/90534 (TOPMED)
-=0.364629/668 (Korea1K)
-=0.394369/1975 (1000Genomes)
HGVS:: NC_000019.10:g.29673402del, NC_000019.10:g.29673402dup, NC_000019.10:g.29673401_29673402dup, NC_000019.10:g.29673392_29673402dup, NC_000019.9:g.30164309del, NC_000019.9:g.30164309dup, NC_000019.9:g.30164308_30164309dup, NC_000019.9:g.30164299_30164309dup

Select item 148720691716.

rs1487206917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:29675785 (GRCh38)
19:30166692 (GRCh37)
Canonical SPDI:: NC_000019.10:29675784:C:A
Gene:: PLEKHF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.29675785C>A, NC_000019.9:g.30166692C>A

Select item 148703603217.

rs1487036032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29667401 (GRCh38)
19:30158308 (GRCh37)
Canonical SPDI:: NC_000019.10:29667400:G:A
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.29667401G>A, NC_000019.9:g.30158308G>A

Select item 148680653118.

rs1486806531 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:29666141 (GRCh38)
19:30157048 (GRCh37)
Canonical SPDI:: NC_000019.10:29666140:GGG:GG
Gene:: PLEKHF1 (Varview), LOC105372353 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.29666143del, NC_000019.9:g.30157050del, XM_011527309.4:c.-1054del, XM_011527309.3:c.-1054del, XM_011527309.2:c.-1054del, XM_011527309.1:c.-1054del

Select item 148674515119.

rs1486745151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:29673162 (GRCh38)
19:30164069 (GRCh37)
Canonical SPDI:: NC_000019.10:29673161:G:A
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.29673162G>A, NC_000019.9:g.30164069G>A

Select item 148658910720.

rs1486589107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:29671209 (GRCh38)
19:30162116 (GRCh37)
Canonical SPDI:: NC_000019.10:29671208:C:T
Gene:: PLEKHF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.29671209C>T, NC_000019.9:g.30162116C>T

<< First< Prev

Page of 145

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 79156) (2898)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: