SNP Links for Gene (Select 246330) - SNP

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Select item 14910671201.

rs1491067120 has merged into rs149842578 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 11:66469261 (GRCh38)
11:66236732 (GRCh37)
Canonical SPDI:: NC_000011.10:66469250:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:66469250:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:66469250:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:66469250:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:66469250:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01742/67 (1000Genomes)
A=0.22418/864 (ALSPAC)
A=0.23463/870 (TWINSUK)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000011.10:g.66469261_66469263del, NC_000011.10:g.66469262_66469263del, NC_000011.10:g.66469263del, NC_000011.10:g.66469263dup, NC_000011.10:g.66469262_66469263dup, NC_000011.9:g.66236732_66236734del, NC_000011.9:g.66236733_66236734del, NC_000011.9:g.66236734del, NC_000011.9:g.66236734dup, NC_000011.9:g.66236733_66236734dup, NG_029627.1:g.7935_7937del, NG_029627.1:g.7936_7937del, NG_029627.1:g.7937del, NG_029627.1:g.7937dup, NG_029627.1:g.7936_7937dup

Select item 14907236012.

rs1490723601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66474118 (GRCh38)
11:66241589 (GRCh37)
Canonical SPDI:: NC_000011.10:66474117:A:G
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.66474118A>G, NC_000011.9:g.66241589A>G, NG_029627.1:g.12792A>G

Select item 14906849163.

rs1490684916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66469232 (GRCh38)
11:66236703 (GRCh37)
Canonical SPDI:: NC_000011.10:66469231:G:A,NC_000011.10:66469231:G:T
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002013/9 (ALFA)
A=0.000007/1 (GnomAD)
T=0.002009/9 (Estonian)
HGVS:: NC_000011.10:g.66469232G>A, NC_000011.10:g.66469232G>T, NC_000011.9:g.66236703G>A, NC_000011.9:g.66236703G>T, NG_029627.1:g.7906G>A, NG_029627.1:g.7906G>T

Select item 14906553704.

rs1490655370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66464419 (GRCh38)
11:66231890 (GRCh37)
Canonical SPDI:: NC_000011.10:66464418:A:G
Gene:: PELI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66464419A>G, NC_000011.9:g.66231890A>G, NG_029627.1:g.3093A>G

Select item 14905228445.

rs1490522844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66468005 (GRCh38)
11:66235476 (GRCh37)
Canonical SPDI:: NC_000011.10:66468004:C:A,NC_000011.10:66468004:C:T
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000223/1 (Estonian)
A=0.000342/1 (KOREAN)
A=0.00138/23 (TOMMO)
HGVS:: NC_000011.10:g.66468005C>A, NC_000011.10:g.66468005C>T, NC_000011.9:g.66235476C>A, NC_000011.9:g.66235476C>T, NG_029627.1:g.6679C>A, NG_029627.1:g.6679C>T

Select item 14899818416.

rs1489981841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66475862 (GRCh38)
11:66243333 (GRCh37)
Canonical SPDI:: NC_000011.10:66475861:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66475862C>T, NC_000011.9:g.66243333C>T, NG_032068.1:g.454C>T, NG_029627.1:g.14536C>T, NM_145065.3:c.1105C>T, NM_145065.2:c.1105C>T, NM_001098510.2:c.1033C>T, NM_001098510.1:c.1033C>T, NM_001243135.2:c.916C>T, NM_001243135.1:c.916C>T, NM_001243136.2:c.784C>T, NM_001243136.1:c.784C>T, XM_011544884.3:c.1105C>T, XM_011544884.2:c.1105C>T, XM_011544884.1:c.1105C>T, XM_047426703.1:c.1033C>T, NP_659502.2:p.His369Tyr, NP_001091980.1:p.His345Tyr, NP_001230064.1:p.His306Tyr, NP_001230065.1:p.His262Tyr, XP_011543186.1:p.His369Tyr, XP_047282659.1:p.His345Tyr

Select item 14895383737.

rs1489538373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66474671 (GRCh38)
11:66242142 (GRCh37)
Canonical SPDI:: NC_000011.10:66474670:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.66474671G>A, NC_000011.9:g.66242142G>A, NG_029627.1:g.13345G>A

Select item 14894363048.

rs1489436304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66476835 (GRCh38)
11:66244306 (GRCh37)
Canonical SPDI:: NC_000011.10:66476834:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000011.10:g.66476835C>T, NC_000011.9:g.66244306C>T, NG_032068.1:g.1427C>T, NG_029627.1:g.15509C>T, NM_145065.3:c.*668C>T, NM_145065.2:c.*668C>T, NM_001098510.2:c.*668C>T, NM_001098510.1:c.*668C>T, NM_001243135.2:c.*668C>T, NM_001243135.1:c.*668C>T, NM_001243136.2:c.*668C>T, NM_001243136.1:c.*668C>T, XM_011544884.3:c.*668C>T, XM_011544884.2:c.*668C>T, XM_011544884.1:c.*668C>T, XM_047426703.1:c.*668C>T

Select item 14893785449.

rs1489378544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66467194 (GRCh38)
11:66234665 (GRCh37)
Canonical SPDI:: NC_000011.10:66467193:C:T
Gene:: PELI3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66467194C>T, NC_000011.9:g.66234665C>T, NG_029627.1:g.5868C>T, XM_047426703.1:c.-366C>T

Select item 148927447710.

rs1489274477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66471415 (GRCh38)
11:66238886 (GRCh37)
Canonical SPDI:: NC_000011.10:66471414:C:G
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66471415C>G, NC_000011.9:g.66238886C>G, NG_029627.1:g.10089C>G

Select item 148922122211.

rs1489221222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66466090 (GRCh38)
11:66233561 (GRCh37)
Canonical SPDI:: NC_000011.10:66466089:A:C
Gene:: PELI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66466090A>C, NC_000011.9:g.66233561A>C, NG_029627.1:g.4764A>C

Select item 148916903812.

rs1489169038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:66468093 (GRCh38)
11:66235564 (GRCh37)
Canonical SPDI:: NC_000011.10:66468092:A:C,NC_000011.10:66468092:A:G
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66468093A>C, NC_000011.10:g.66468093A>G, NC_000011.9:g.66235564A>C, NC_000011.9:g.66235564A>G, NG_029627.1:g.6767A>C, NG_029627.1:g.6767A>G

Select item 148914037213.

rs1489140372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66470301 (GRCh38)
11:66237772 (GRCh37)
Canonical SPDI:: NC_000011.10:66470300:C:T
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66470301C>T, NC_000011.9:g.66237772C>T, NG_029627.1:g.8975C>T

Select item 148895676014.

rs1488956760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66466820 (GRCh38)
11:66234291 (GRCh37)
Canonical SPDI:: NC_000011.10:66466819:T:C
Gene:: PELI3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66466820T>C, NC_000011.9:g.66234291T>C, NG_029627.1:g.5494T>C

Select item 148853537915.

rs1488535379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:66475557 (GRCh38)
11:66243028 (GRCh37)
Canonical SPDI:: NC_000011.10:66475556:G:A,NC_000011.10:66475556:G:C
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66475557G>A, NC_000011.10:g.66475557G>C, NC_000011.9:g.66243028G>A, NC_000011.9:g.66243028G>C, NG_032068.1:g.149G>A, NG_032068.1:g.149G>C, NG_029627.1:g.14231G>A, NG_029627.1:g.14231G>C

Select item 148839215516.

rs1488392155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66473210 (GRCh38)
11:66240681 (GRCh37)
Canonical SPDI:: NC_000011.10:66473209:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.66473210C>T, NC_000011.9:g.66240681C>T, NG_029627.1:g.11884C>T

Select item 148795422117.

rs1487954221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66474343 (GRCh38)
11:66241814 (GRCh37)
Canonical SPDI:: NC_000011.10:66474342:G:C
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66474343G>C, NC_000011.9:g.66241814G>C, NG_029627.1:g.13017G>C

Select item 148776922118.

rs1487769221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66473878 (GRCh38)
11:66241349 (GRCh37)
Canonical SPDI:: NC_000011.10:66473877:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000011.10:g.66473878G>A, NC_000011.9:g.66241349G>A, NG_029627.1:g.12552G>A, NM_145065.3:c.793G>A, NM_145065.2:c.793G>A, NM_001098510.2:c.721G>A, NM_001098510.1:c.721G>A, NM_001243135.2:c.604G>A, NM_001243135.1:c.604G>A, NM_001243136.2:c.472G>A, NM_001243136.1:c.472G>A, XM_011544884.3:c.793G>A, XM_011544884.2:c.793G>A, XM_011544884.1:c.793G>A, XM_047426703.1:c.721G>A, NP_659502.2:p.Val265Met, NP_001091980.1:p.Val241Met, NP_001230064.1:p.Val202Met, NP_001230065.1:p.Val158Met, XP_011543186.1:p.Val265Met, XP_047282659.1:p.Val241Met

Select item 148764412519.

rs1487644125 [Homo sapiens]

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

Select item 148726286820.

rs1487262868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCCTTACT>- [Show Flanks]
Chromosome:: 11:66464963 (GRCh38)
11:66232434 (GRCh37)
Canonical SPDI:: NC_000011.10:66464960:CTCTCCCTTACT:CT
Gene:: PELI3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66464963_66464972del, NC_000011.9:g.66232434_66232443del, NG_029627.1:g.3637_3646del

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