SNP Links for Gene (Select 101559451) - SNP

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Select item 14904270741.

rs1490427074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4705342 (GRCh38)
17:4608637 (GRCh37)
Canonical SPDI:: NC_000017.11:4705341:T:G
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_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_000017.11:g.4705342T>G, NC_000017.10:g.4608637T>G, NG_010933.1:g.58A>C, NR_103482.1:n.285T>G

Select item 14895003122.

rs1489500312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:4703183 (GRCh38)
17:4606478 (GRCh37)
Canonical SPDI:: NC_000017.11:4703182:T:A
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.4703183T>A, NC_000017.10:g.4606478T>A

Select item 14891413963.

rs1489141396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4704779 (GRCh38)
17:4608074 (GRCh37)
Canonical SPDI:: NC_000017.11:4704778:G:A,NC_000017.11:4704778:G:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.4704779G>A, NC_000017.11:g.4704779G>C, NC_000017.10:g.4608074G>A, NC_000017.10:g.4608074G>C, NG_010933.1:g.621C>T, NG_010933.1:g.621C>G

Select item 14891038884.

rs1489103888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4706021 (GRCh38)
17:4609316 (GRCh37)
Canonical SPDI:: NC_000017.11:4706020:T:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4706021T>C, NC_000017.10:g.4609316T>C

Select item 14887902145.

rs1488790214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4705533 (GRCh38)
17:4608828 (GRCh37)
Canonical SPDI:: NC_000017.11:4705532:G:A
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.4705533G>A, NC_000017.10:g.4608828G>A

Select item 14881197166.

rs1488119716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:4705678 (GRCh38)
17:4608973 (GRCh37)
Canonical SPDI:: NC_000017.11:4705677:A:T
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4705678A>T, NC_000017.10:g.4608973A>T

Select item 14878932957.

rs1487893295 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:4705436 (GRCh38)
17:4608731 (GRCh37)
Canonical SPDI:: NC_000017.11:4705432:AAAAA:AAA
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4705436_4705437del, NC_000017.10:g.4608731_4608732del, NR_103482.1:n.379_380del

Select item 14875301048.

rs1487530104 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>- [Show Flanks]
Chromosome:: 17:4705337 (GRCh38)
17:4608632 (GRCh37)
Canonical SPDI:: NC_000017.11:4705333:ACAGACA:ACA
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4705337_4705340del, NC_000017.10:g.4608632_4608635del, NG_010933.1:g.63_66del, NR_103482.1:n.280_283del

Select item 14872425589.

rs1487242558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:4702834 (GRCh38)
17:4606129 (GRCh37)
Canonical SPDI:: NC_000017.11:4702833:A:T
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.4702834A>T, NC_000017.10:g.4606129A>T

Select item 148551755810.

rs1485517558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4702762 (GRCh38)
17:4606057 (GRCh37)
Canonical SPDI:: NC_000017.11:4702761:C:T
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.4702762C>T, NC_000017.10:g.4606057C>T

Select item 148509427211.

rs1485094272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4704121 (GRCh38)
17:4607416 (GRCh37)
Canonical SPDI:: NC_000017.11:4704120:G:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.4704121G>C, NC_000017.10:g.4607416G>C, NM_014389.3:c.-10C>G, NM_014389.2:c.141C>G, NM_001278241.2:c.-533C>G, NM_001278241.1:c.-533C>G, NR_046388.1:n.217C>G

Select item 148463567812.

rs1484635678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:4702542 (GRCh38)
17:4605837 (GRCh37)
Canonical SPDI:: NC_000017.11:4702541:C:A
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4702542C>A, NC_000017.10:g.4605837C>A

Select item 148394414313.

rs1483944143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4703769 (GRCh38)
17:4607064 (GRCh37)
Canonical SPDI:: NC_000017.11:4703768:C:T
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.4703769C>T, NC_000017.10:g.4607064C>T

Select item 148296208614.

rs1482962086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4703402 (GRCh38)
17:4606697 (GRCh37)
Canonical SPDI:: NC_000017.11:4703401:A:G
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.4703402A>G, NC_000017.10:g.4606697A>G

Select item 148160389315.

rs1481603893 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAAA>- [Show Flanks]
Chromosome:: 17:4705432 (GRCh38)
17:4608727 (GRCh37)
Canonical SPDI:: NC_000017.11:4705426:AAAAAGAAAAA:AAAAA
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.4705432_4705437del, NC_000017.10:g.4608727_4608732del, NR_103482.1:n.375_380del

Select item 147964478516.

rs1479644785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4704020 (GRCh38)
17:4607315 (GRCh37)
Canonical SPDI:: NC_000017.11:4704019:G:T
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
T=0.000343/1 (KOREAN)
HGVS:: NC_000017.11:g.4704020G>T, NC_000017.10:g.4607315G>T, NM_014389.3:c.92C>A, NM_014389.2:c.242C>A, NM_001278241.2:c.-432C>A, NM_001278241.1:c.-432C>A, NR_046388.1:n.318C>A, NP_055204.4:p.Pro31Gln

Select item 147933126117.

rs1479331261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4703268 (GRCh38)
17:4606563 (GRCh37)
Canonical SPDI:: NC_000017.11:4703267:T:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4703268T>C, NC_000017.10:g.4606563T>C

Select item 147916334018.

rs1479163340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4703759 (GRCh38)
17:4607054 (GRCh37)
Canonical SPDI:: NC_000017.11:4703758:T:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4703759T>C, NC_000017.10:g.4607054T>C

Select item 147741749919.

rs1477417499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4705064 (GRCh38)
17:4608359 (GRCh37)
Canonical SPDI:: NC_000017.11:4705063:G:C
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4705064G>C, NC_000017.10:g.4608359G>C, NG_010933.1:g.336C>G

Select item 147709494120.

rs1477094941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4705418 (GRCh38)
17:4608713 (GRCh37)
Canonical SPDI:: NC_000017.11:4705417:G:A
Gene:: PELP1 (Varview), PELP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4705418G>A, NC_000017.10:g.4608713G>A, NR_103482.1:n.361G>A

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