SNP Links for Gene (Select 54478) - SNP

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Select item 14909908191.

rs1490990819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:6443829 (GRCh38)
17:6347149 (GRCh37)
Canonical SPDI:: NC_000017.11:6443828:G:A,NC_000017.11:6443828:G:C
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6443829G>A, NC_000017.11:g.6443829G>C, NC_000017.10:g.6347149G>A, NC_000017.10:g.6347149G>C

Select item 14908228972.

rs1490822897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:6450517 (GRCh38)
17:6353837 (GRCh37)
Canonical SPDI:: NC_000017.11:6450516:A:T
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_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_000017.11:g.6450517A>T, NC_000017.10:g.6353837A>T, NG_016020.1:g.111041T>A, NM_019013.3:c.*170A>T, NM_019013.2:c.*170A>T, XM_017024778.2:c.*95A>T, XM_017024778.1:c.*95A>T, NM_001195228.2:c.*95A>T, NM_001195228.1:c.*95A>T, XM_047436312.1:c.*756A>T, XM_047436310.1:c.*756A>T, XM_047436311.1:c.*459A>T

Select item 14907502603.

rs1490750260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:6449669 (GRCh38)
17:6352989 (GRCh37)
Canonical SPDI:: NC_000017.11:6449668:G:T
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.6449669G>T, NC_000017.10:g.6352989G>T, NG_016020.1:g.111889C>A

Select item 14903824074.

rs1490382407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6444548 (GRCh38)
17:6347868 (GRCh37)
Canonical SPDI:: NC_000017.11:6444547:G:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.6444548G>A, NC_000017.10:g.6347868G>A

Select item 14901736785.

rs1490173678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:6444226 (GRCh38)
17:6347546 (GRCh37)
Canonical SPDI:: NC_000017.11:6444225:A:T
Gene:: PIMREG (Varview), LOC107985017 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6444226A>T, NC_000017.10:g.6347546A>T

Select item 14896418786.

rs1489641878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6445122 (GRCh38)
17:6348442 (GRCh37)
Canonical SPDI:: NC_000017.11:6445121:G:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.6445122G>A, NC_000017.10:g.6348442G>A, NM_019013.3:c.12G>A, NM_019013.2:c.12G>A, NM_001195228.2:c.12G>A, NM_001195228.1:c.12G>A, XM_047436310.1:c.12G>A, XM_047436311.1:c.12G>A

Select item 14895768517.

rs1489576851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6451415 (GRCh38)
17:6354735 (GRCh37)
Canonical SPDI:: NC_000017.11:6451414:C:T
Gene:: PIMREG (Varview), PITPNM3 (Varview), LOC107985017 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.6451415C>T, NC_000017.10:g.6354735C>T, NG_016020.1:g.110143G>A, NM_031220.4:c.*3923G>A, NM_031220.3:c.*3923G>A, NM_001165966.2:c.*3923G>A, NM_001165966.1:c.*3923G>A, NM_019013.3:c.*1068C>T, XM_017024778.2:c.*993C>T, NM_001195228.2:c.*993C>T

Select item 14890116608.

rs1489011660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6445680 (GRCh38)
17:6349000 (GRCh37)
Canonical SPDI:: NC_000017.11:6445679:C:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.6445680C>A, NC_000017.10:g.6349000C>A, XM_017024778.2:c.-352C>A, XM_017024778.1:c.-352C>A, XM_047436312.1:c.-352C>A

Select item 14888575519.

rs1488857551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6449121 (GRCh38)
17:6352441 (GRCh37)
Canonical SPDI:: NC_000017.11:6449120:C:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000017.11:g.6449121C>A, NC_000017.10:g.6352441C>A, XR_001752776.2:n.320G>T, XR_001752776.1:n.344G>T

Select item 148869178010.

rs1488691780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:6446187 (GRCh38)
17:6349507 (GRCh37)
Canonical SPDI:: NC_000017.11:6446186:T:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000017.11:g.6446187T>A, NC_000017.10:g.6349507T>A, XM_017024778.2:c.156T>A, XM_017024778.1:c.156T>A, XM_047436312.1:c.156T>A, XP_016880267.1:p.Asp52Glu, XP_047292268.1:p.Asp52Glu

Select item 148865200911.

rs1488652009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6446750 (GRCh38)
17:6350070 (GRCh37)
Canonical SPDI:: NC_000017.11:6446749:T:C
Gene:: PIMREG (Varview), LOC107985017 (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_000017.11:g.6446750T>C, NC_000017.10:g.6350070T>C

Select item 148724942612.

rs1487249426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAACAAAAAAA,AAAGAAAAAAA,AAGAAAAAAA,AGAAAAAAA [Show Flanks]
Chromosome:: 17:6448295 (GRCh38)
17:6351616 (GRCh37)
Canonical SPDI:: NC_000017.11:6448295:AAAAAAA:AAAAAAAAAAAAAAAAACAAAAAAA,NC_000017.11:6448295:AAAAAAA:AAAAAAAAAAGAAAAAAA,NC_000017.11:6448295:AAAAAAA:AAAAAAAAAGAAAAAAA,NC_000017.11:6448295:AAAAAAA:AAAAAAAAGAAAAAAA
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAGAAAAAAA=0.00009/1 (ALFA)
HGVS:: NC_000017.11:g.6448296_6448302A[17]CAAAAAAA[1], NC_000017.11:g.6448296_6448302A[10]GAAAAAAA[1], NC_000017.11:g.6448296_6448302A[9]GAAAAAAA[1], NC_000017.11:g.6448296_6448302A[8]GAAAAAAA[1], NC_000017.10:g.6351616_6351622A[17]CAAAAAAA[1], NC_000017.10:g.6351616_6351622A[10]GAAAAAAA[1], NC_000017.10:g.6351616_6351622A[9]GAAAAAAA[1], NC_000017.10:g.6351616_6351622A[8]GAAAAAAA[1]

Select item 148705325213.

rs1487053252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:6446639 (GRCh38)
17:6349959 (GRCh37)
Canonical SPDI:: NC_000017.11:6446638:T:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6446639T>A, NC_000017.10:g.6349959T>A

Select item 148701184814.

rs1487011848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:6451023 (GRCh38)
17:6354343 (GRCh37)
Canonical SPDI:: NC_000017.11:6451022:T:G
Gene:: PIMREG (Varview), PITPNM3 (Varview), LOC107985017 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,3_prime_UTR_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.6451023T>G, NC_000017.10:g.6354343T>G, NG_016020.1:g.110535A>C, NM_019013.3:c.*676T>G, NM_019013.2:c.*676T>G, XM_017024778.2:c.*601T>G, XM_017024778.1:c.*601T>G, NM_001195228.2:c.*601T>G, NM_001195228.1:c.*601T>G, XM_047436312.1:c.*1262T>G, XM_047436310.1:c.*1262T>G, XM_047436311.1:c.*965T>G

Select item 148677682515.

rs1486776825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6446948 (GRCh38)
17:6350268 (GRCh37)
Canonical SPDI:: NC_000017.11:6446947:G:A
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.6446948G>A, NC_000017.10:g.6350268G>A

Select item 148669405316.

rs1486694053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:6447411 (GRCh38)
17:6350731 (GRCh37)
Canonical SPDI:: NC_000017.11:6447410:C:G,NC_000017.11:6447410:C:T
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.6447411C>G, NC_000017.11:g.6447411C>T, NC_000017.10:g.6350731C>G, NC_000017.10:g.6350731C>T

Select item 148666128717.

rs1486661287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6447027 (GRCh38)
17:6350347 (GRCh37)
Canonical SPDI:: NC_000017.11:6447026:T:C
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.6447027T>C, NC_000017.10:g.6350347T>C

Select item 148665814818.

rs1486658148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:6446650 (GRCh38)
17:6349970 (GRCh37)
Canonical SPDI:: NC_000017.11:6446649:G:A,NC_000017.11:6446649:G:T
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6446650G>A, NC_000017.11:g.6446650G>T, NC_000017.10:g.6349970G>A, NC_000017.10:g.6349970G>T

Select item 148647418419.

rs1486474184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:6444203 (GRCh38)
17:6347523 (GRCh37)
Canonical SPDI:: NC_000017.11:6444202:G:C
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000162/3 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.6444203G>C, NC_000017.10:g.6347523G>C

Select item 148606167220.

rs1486061672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:6443159 (GRCh38)
17:6346479 (GRCh37)
Canonical SPDI:: NC_000017.11:6443158:A:C,NC_000017.11:6443158:A:G
Gene:: PIMREG (Varview), LOC107985017 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.6443159A>C, NC_000017.11:g.6443159A>G, NC_000017.10:g.6346479A>C, NC_000017.10:g.6346479A>G