SNP Links for Gene (Select 5480) - SNP

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Select item 14912490031.

rs1491249003 has merged into rs70988555 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:123023822 (GRCh38)
5:122359517 (GRCh37)
Canonical SPDI:: NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:123023807:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000005.10:g.123023808AC[7], NC_000005.10:g.123023808AC[8], NC_000005.10:g.123023808AC[9], NC_000005.10:g.123023808AC[10], NC_000005.10:g.123023808AC[11], NC_000005.10:g.123023808AC[12], NC_000005.10:g.123023808AC[13], NC_000005.10:g.123023808AC[14], NC_000005.10:g.123023808AC[16], NC_000005.10:g.123023808AC[17], NC_000005.10:g.123023808AC[18], NC_000005.10:g.123023808AC[19], NC_000005.10:g.123023808AC[20], NC_000005.10:g.123023808AC[21], NC_000005.10:g.123023808AC[22], NC_000005.10:g.123023808AC[23], NC_000005.10:g.123023808AC[24], NC_000005.10:g.123023808AC[25], NC_000005.10:g.123023808AC[26], NC_000005.9:g.122359503AC[7], NC_000005.9:g.122359503AC[8], NC_000005.9:g.122359503AC[9], NC_000005.9:g.122359503AC[10], NC_000005.9:g.122359503AC[11], NC_000005.9:g.122359503AC[12], NC_000005.9:g.122359503AC[13], NC_000005.9:g.122359503AC[14], NC_000005.9:g.122359503AC[16], NC_000005.9:g.122359503AC[17], NC_000005.9:g.122359503AC[18], NC_000005.9:g.122359503AC[19], NC_000005.9:g.122359503AC[20], NC_000005.9:g.122359503AC[21], NC_000005.9:g.122359503AC[22], NC_000005.9:g.122359503AC[23], NC_000005.9:g.122359503AC[24], NC_000005.9:g.122359503AC[25], NC_000005.9:g.122359503AC[26], NM_000943.5:c.*38GT[7], NM_000943.5:c.*38GT[8], NM_000943.5:c.*38GT[9], NM_000943.5:c.*38GT[10], NM_000943.5:c.*38GT[11], NM_000943.5:c.*38GT[12], NM_000943.5:c.*38GT[13], NM_000943.5:c.*38GT[14], NM_000943.5:c.*38GT[16], NM_000943.5:c.*38GT[17], NM_000943.5:c.*38GT[18], NM_000943.5:c.*38GT[19], NM_000943.5:c.*38GT[20], NM_000943.5:c.*38GT[21], NM_000943.5:c.*38GT[22], NM_000943.5:c.*38GT[23], NM_000943.5:c.*38GT[24], NM_000943.5:c.*38GT[25], NM_000943.5:c.*38GT[26], NM_000943.4:c.*38GT[7], NM_000943.4:c.*38GT[8], NM_000943.4:c.*38GT[9], NM_000943.4:c.*38GT[10], NM_000943.4:c.*38GT[11], NM_000943.4:c.*38GT[12], NM_000943.4:c.*38GT[13], NM_000943.4:c.*38GT[14], NM_000943.4:c.*38GT[16], NM_000943.4:c.*38GT[17], NM_000943.4:c.*38GT[18], NM_000943.4:c.*38GT[19], NM_000943.4:c.*38GT[20], NM_000943.4:c.*38GT[21], NM_000943.4:c.*38GT[22], NM_000943.4:c.*38GT[23], NM_000943.4:c.*38GT[24], NM_000943.4:c.*38GT[25], NM_000943.4:c.*38GT[26]

Select item 14906502832.

rs1490650283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:123025003 (GRCh38)
5:122360698 (GRCh37)
Canonical SPDI:: NC_000005.10:123025002:T:C
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000005.10:g.123025003T>C, NC_000005.9:g.122360698T>C

Select item 14903391683.

rs1490339168 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:123035635 (GRCh38)
5:122371330 (GRCh37)
Canonical SPDI:: NC_000005.10:123035634:CCCCC:CCCC
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000354/6 (TOMMO)
HGVS:: NC_000005.10:g.123035639del, NC_000005.9:g.122371334del

Select item 14903347504.

rs1490334750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:123038060 (GRCh38)
5:122373755 (GRCh37)
Canonical SPDI:: NC_000005.10:123038059:G:C,NC_000005.10:123038059:G:T
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
C=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.123038060G>C, NC_000005.10:g.123038060G>T, NC_000005.9:g.122373755G>C, NC_000005.9:g.122373755G>T

Select item 14903192055.

rs1490319205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:123036133 (GRCh38)
5:122371828 (GRCh37)
Canonical SPDI:: NC_000005.10:123036132:G:A
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.123036133G>A, NC_000005.9:g.122371828G>A, XR_001742868.2:n.212G>A, XR_001742868.1:n.212G>A

Select item 14902716866.

rs1490271686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:123034528 (GRCh38)
5:122370223 (GRCh37)
Canonical SPDI:: NC_000005.10:123034527:T:C
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.123034528T>C, NC_000005.9:g.122370223T>C

Select item 14901296967.

rs1490129696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:123028794 (GRCh38)
5:122364489 (GRCh37)
Canonical SPDI:: NC_000005.10:123028793:G:T
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.123028794G>T, NC_000005.9:g.122364489G>T, NG_083808.1:g.533G>T, NM_000943.5:c.306C>A, NM_000943.4:c.306C>A

Select item 14898343138.

rs1489834313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:123025560 (GRCh38)
5:122361255 (GRCh37)
Canonical SPDI:: NC_000005.10:123025559:T:C
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.123025560T>C, NC_000005.9:g.122361255T>C

Select item 14894041359.

rs1489404135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:123027187 (GRCh38)
5:122362882 (GRCh37)
Canonical SPDI:: NC_000005.10:123027186:G:A
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000005.10:g.123027187G>A, NC_000005.9:g.122362882G>A

Select item 148929040610.

rs1489290406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:123026034 (GRCh38)
5:122361729 (GRCh37)
Canonical SPDI:: NC_000005.10:123026033:T:C
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.123026034T>C, NC_000005.9:g.122361729T>C

Select item 148925263011.

rs1489252630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:123026823 (GRCh38)
5:122362518 (GRCh37)
Canonical SPDI:: NC_000005.10:123026822:G:A
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.123026823G>A, NC_000005.9:g.122362518G>A

Select item 148910989312.

rs1489109893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:123035070 (GRCh38)
5:122370765 (GRCh37)
Canonical SPDI:: NC_000005.10:123035069:C:T
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.123035070C>T, NC_000005.9:g.122370765C>T

Select item 148903769813.

rs1489037698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:123033399 (GRCh38)
5:122369094 (GRCh37)
Canonical SPDI:: NC_000005.10:123033398:T:A
Gene:: PPIC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.123033399T>A, NC_000005.9:g.122369094T>A

Select item 148878167514.

rs1488781675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:123035514 (GRCh38)
5:122371209 (GRCh37)
Canonical SPDI:: NC_000005.10:123035513:C:G
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.123035514C>G, NC_000005.9:g.122371209C>G

Select item 148867939115.

rs1488679391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:123036216 (GRCh38)
5:122371911 (GRCh37)
Canonical SPDI:: NC_000005.10:123036215:C:T
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.123036216C>T, NC_000005.9:g.122371911C>T, XR_001742868.2:n.295C>T, XR_001742868.1:n.295C>T

Select item 148838825316.

rs1488388253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:123033713 (GRCh38)
5:122369408 (GRCh37)
Canonical SPDI:: NC_000005.10:123033712:T:C
Gene:: PPIC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00034/1 (KOREAN)
HGVS:: NC_000005.10:g.123033713T>C, NC_000005.9:g.122369408T>C

Select item 148828676017.

rs1488286760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:123037047 (GRCh38)
5:122372742 (GRCh37)
Canonical SPDI:: NC_000005.10:123037046:C:T
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.123037047C>T, NC_000005.9:g.122372742C>T

Select item 148769818418.

rs1487698184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:123026509 (GRCh38)
5:122362204 (GRCh37)
Canonical SPDI:: NC_000005.10:123026508:A:C
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.123026509A>C, NC_000005.9:g.122362204A>C

Select item 148757671719.

rs1487576717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:123037880 (GRCh38)
5:122373575 (GRCh37)
Canonical SPDI:: NC_000005.10:123037879:G:A
Gene:: PPIC (Varview), PPIC-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.123037880G>A, NC_000005.9:g.122373575G>A

Select item 148739212120.

rs1487392121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:123029621 (GRCh38)
5:122365316 (GRCh37)
Canonical SPDI:: NC_000005.10:123029620:A:G
Gene:: PPIC (Varview), SNX24 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.123029621A>G, NC_000005.9:g.122365316A>G, NG_083808.1:g.1360A>G

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