SNP Links for Gene (Select 2814) - SNP

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Items: 1 to 20 of 1899

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Select item 14909699781.

rs1490969978 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14904550982.

rs1490455098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194400490 (GRCh38)
3:194121219 (GRCh37)
Canonical SPDI:: NC_000003.12:194400489:G:A
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.194400490G>A, NC_000003.11:g.194121219G>A

Select item 14888310503.

rs1488831050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194400742 (GRCh38)
3:194121471 (GRCh37)
Canonical SPDI:: NC_000003.12:194400741:G:A
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00024/12 (GnomAD)
HGVS:: NC_000003.12:g.194400742G>A, NC_000003.11:g.194121471G>A

Select item 14887910804.

rs1488791080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:194399632 (GRCh38)
3:194120361 (GRCh37)
Canonical SPDI:: NC_000003.12:194399631:T:C,NC_000003.12:194399631:T:G
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.194399632T>C, NC_000003.12:g.194399632T>G, NC_000003.11:g.194120361T>C, NC_000003.11:g.194120361T>G

Select item 14882050175.

rs1488205017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194399369 (GRCh38)
3:194120098 (GRCh37)
Canonical SPDI:: NC_000003.12:194399368:G:A
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194399369G>A, NC_000003.11:g.194120098G>A

Select item 14881700876.

rs1488170087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:194400053 (GRCh38)
3:194120782 (GRCh37)
Canonical SPDI:: NC_000003.12:194400052:C:G,NC_000003.12:194400052:C:T
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000003.12:g.194400053C>G, NC_000003.12:g.194400053C>T, NC_000003.11:g.194120782C>G, NC_000003.11:g.194120782C>T

Select item 14879237747.

rs1487923774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:194396411 (GRCh38)
3:194117140 (GRCh37)
Canonical SPDI:: NC_000003.12:194396410:C:A
Gene:: GP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194396411C>A, NC_000003.11:g.194117140C>A, NM_004488.2:c.*189G>T

Select item 14878921848.

rs1487892184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:194399670 (GRCh38)
3:194120399 (GRCh37)
Canonical SPDI:: NC_000003.12:194399669:G:A,NC_000003.12:194399669:G:T
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000043/3 (GnomAD)
T=0.002669/45 (TOMMO)
T=0.025109/46 (Korea1K)
HGVS:: NC_000003.12:g.194399670G>A, NC_000003.12:g.194399670G>T, NC_000003.11:g.194120399G>A, NC_000003.11:g.194120399G>T

Select item 14871413819.

rs1487141381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:194394337 (GRCh38)
3:194115066 (GRCh37)
Canonical SPDI:: NC_000003.12:194394336:C:T
Gene:: GP5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00021/4 (TOMMO)
HGVS:: NC_000003.12:g.194394337C>T, NC_000003.11:g.194115066C>T

Select item 148663503710.

rs1486635037 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:194401170 (GRCh38)
3:194121899 (GRCh37)
Canonical SPDI:: NC_000003.12:194401169:T:
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.194401170del, NC_000003.11:g.194121899del

Select item 148621459311.

rs1486214593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194400785 (GRCh38)
3:194121514 (GRCh37)
Canonical SPDI:: NC_000003.12:194400784:G:A
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00003/1 (GnomAD)
A=0.00004/1 (TOMMO)
A=0.00031/2 (1000Genomes)
HGVS:: NC_000003.12:g.194400785G>A, NC_000003.11:g.194121514G>A

Select item 148615999412.

rs1486159994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:194398614 (GRCh38)
3:194119343 (GRCh37)
Canonical SPDI:: NC_000003.12:194398613:G:T
Gene:: GP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.194398614G>T, NC_000003.11:g.194119343G>T

Select item 148608459513.

rs1486084595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:194398264 (GRCh38)
3:194118993 (GRCh37)
Canonical SPDI:: NC_000003.12:194398263:G:T
Gene:: GP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194398264G>T, NC_000003.11:g.194118993G>T, NM_004488.2:c.19C>A, NP_004479.1:p.Leu7Met

Select item 148572939814.

rs1485729398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:194398625 (GRCh38)
3:194119354 (GRCh37)
Canonical SPDI:: NC_000003.12:194398624:T:C
Gene:: GP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194398625T>C, NC_000003.11:g.194119354T>C

Select item 148560801415.

rs1485608014 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 3:194396500 (GRCh38)
3:194117229 (GRCh37)
Canonical SPDI:: NC_000003.12:194396493:GAGGAGGAG:GAGGAG
Gene:: GP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.000071/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.194396494GAG[2], NC_000003.11:g.194117223GAG[2], NM_004488.2:c.*98CTC[2]

Select item 148500897616.

rs1485008976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:194398329 (GRCh38)
3:194119058 (GRCh37)
Canonical SPDI:: NC_000003.12:194398328:C:G,NC_000003.12:194398328:C:T
Gene:: GP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.194398329C>G, NC_000003.12:g.194398329C>T, NC_000003.11:g.194119058C>G, NC_000003.11:g.194119058C>T

Select item 148392927717.

rs1483929277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:194397754 (GRCh38)
3:194118483 (GRCh37)
Canonical SPDI:: NC_000003.12:194397753:A:G
Gene:: GP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194397754A>G, NC_000003.11:g.194118483A>G, NM_004488.2:c.529T>C

Select item 148375890118.

rs1483758901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:194399615 (GRCh38)
3:194120344 (GRCh37)
Canonical SPDI:: NC_000003.12:194399614:C:G
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.194399615C>G, NC_000003.11:g.194120344C>G

Select item 148363627619.

rs1483636276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:194396655 (GRCh38)
3:194117384 (GRCh37)
Canonical SPDI:: NC_000003.12:194396654:A:G,NC_000003.12:194396654:A:T
Gene:: GP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.194396655A>G, NC_000003.12:g.194396655A>T, NC_000003.11:g.194117384A>G, NC_000003.11:g.194117384A>T, NM_004488.2:c.1628T>C, NM_004488.2:c.1628T>A, NP_004479.1:p.Met543Thr, NP_004479.1:p.Met543Lys

Select item 148225482720.

rs1482254827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:194400925 (GRCh38)
3:194121654 (GRCh37)
Canonical SPDI:: NC_000003.12:194400924:G:A
Gene:: GP5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.194400925G>A, NC_000003.11:g.194121654G>A

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