SNP Links for Gene (Select 389941) - SNP

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Select item 14910418151.

rs1491041815 has merged into rs71952606 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:16515232 (GRCh38)
10:16557231 (GRCh37)
Canonical SPDI:: NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:16515224:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.2664/154 (NorthernSweden)
A=0.3132/1207 (ALSPAC)
A=0.318/1179 (TWINSUK)
A=0.3433/1719 (1000Genomes)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000010.11:g.16515232_16515238del, NC_000010.11:g.16515233_16515238del, NC_000010.11:g.16515234_16515238del, NC_000010.11:g.16515237_16515238del, NC_000010.11:g.16515238del, NC_000010.11:g.16515238dup, NC_000010.11:g.16515237_16515238dup, NC_000010.11:g.16515236_16515238dup, NC_000010.11:g.16515234_16515238dup, NC_000010.11:g.16515232_16515238dup, NC_000010.10:g.16557231_16557237del, NC_000010.10:g.16557232_16557237del, NC_000010.10:g.16557233_16557237del, NC_000010.10:g.16557236_16557237del, NC_000010.10:g.16557237del, NC_000010.10:g.16557237dup, NC_000010.10:g.16557236_16557237dup, NC_000010.10:g.16557235_16557237dup, NC_000010.10:g.16557233_16557237dup, NC_000010.10:g.16557231_16557237dup

Select item 14909042082.

rs1490904208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16516695 (GRCh38)
10:16558694 (GRCh37)
Canonical SPDI:: NC_000010.11:16516694:A:G
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16516695A>G, NC_000010.10:g.16558694A>G

Select item 14908881263.

rs1490888126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:16515478 (GRCh38)
10:16557477 (GRCh37)
Canonical SPDI:: NC_000010.11:16515477:C:T
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16515478C>T, NC_000010.10:g.16557477C>T

Select item 14904606654.

rs1490460665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:16523439 (GRCh38)
10:16565438 (GRCh37)
Canonical SPDI:: NC_000010.11:16523438:C:T
Gene:: C1QL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16523439C>T, NC_000010.10:g.16565438C>T

Select item 14902899655.

rs1490289965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16521180 (GRCh38)
10:16563179 (GRCh37)
Canonical SPDI:: NC_000010.11:16521179:A:G
Gene:: C1QL3 (Varview)
Functional Consequence:: 5_prime_UTR_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_000010.11:g.16521180A>G, NC_000010.10:g.16563179A>G, NM_001010908.2:c.-115T>C, NM_001010908.1:c.-115T>C

Select item 14901818376.

rs1490181837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:16514059 (GRCh38)
10:16556058 (GRCh37)
Canonical SPDI:: NC_000010.11:16514058:T:C
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16514059T>C, NC_000010.10:g.16556058T>C, NM_001010908.2:c.*469A>G, NM_001010908.1:c.*469A>G

Select item 14900202447.

rs1490020244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:16513610 (GRCh38)
10:16555609 (GRCh37)
Canonical SPDI:: NC_000010.11:16513609:C:A
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16513610C>A, NC_000010.10:g.16555609C>A, NM_030664.5:c.*2354C>A, NM_030664.4:c.*2354C>A, XM_017016927.3:c.*2354C>A, NM_001001484.3:c.*2354C>A, NM_001001484.2:c.*2354C>A, XM_017016929.3:c.*2354C>A, XM_017016929.2:c.*2354C>A, NM_001261836.2:c.*2354C>A, NM_001261836.1:c.*2354C>A, NM_001261837.2:c.*2354C>A, NM_001261837.1:c.*2354C>A, NM_001261838.2:c.*2354C>A, NM_001261838.1:c.*2354C>A, XM_047426006.1:c.*2354C>A, XM_047426007.1:c.*2354C>A

Select item 14898569708.

rs1489856970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:16522125 (GRCh38)
10:16564124 (GRCh37)
Canonical SPDI:: NC_000010.11:16522124:C:T
Gene:: C1QL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.16522125C>T, NC_000010.10:g.16564124C>T

Select item 14897881999.

rs1489788199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:16514618 (GRCh38)
10:16556617 (GRCh37)
Canonical SPDI:: NC_000010.11:16514617:T:C
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,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_000010.11:g.16514618T>C, NC_000010.10:g.16556617T>C, NM_001010908.2:c.678A>G, NM_001010908.1:c.678A>G

Select item 148945131510.

rs1489451315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:16520745 (GRCh38)
10:16562744 (GRCh37)
Canonical SPDI:: NC_000010.11:16520744:C:A
Gene:: C1QL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.16520745C>A, NC_000010.10:g.16562744C>A, NM_001010908.2:c.321G>T, NM_001010908.1:c.321G>T

Select item 148942325411.

rs1489423254 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 10:16514639 (GRCh38)
10:16556638 (GRCh37)
Canonical SPDI:: NC_000010.11:16514638:AA:A
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16514640del, NC_000010.10:g.16556639del, NM_001010908.2:c.657del, NM_001010908.1:c.657del, NP_001010908.1:p.His220fs

Select item 148895896812.

rs1488958968 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:16519999 (GRCh38)
10:16561998 (GRCh37)
Canonical SPDI:: NC_000010.11:16519998:GGGG:GGG
Gene:: C1QL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.001092/2 (Korea1K)
HGVS:: NC_000010.11:g.16520002del, NC_000010.10:g.16562001del

Select item 148843876213.

rs1488438762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:16516786 (GRCh38)
10:16558785 (GRCh37)
Canonical SPDI:: NC_000010.11:16516785:G:C
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.16516786G>C, NC_000010.10:g.16558785G>C, XR_007062017.1:n.2562G>C, XR_007062018.1:n.2173G>C

Select item 148838795914.

rs1488387959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:16519316 (GRCh38)
10:16561315 (GRCh37)
Canonical SPDI:: NC_000010.11:16519315:G:A
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.16519316G>A, NC_000010.10:g.16561315G>A

Select item 148744439915.

rs1487444399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:16515515 (GRCh38)
10:16557514 (GRCh37)
Canonical SPDI:: NC_000010.11:16515512:ATAT:AT
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.16515513AT[1], NC_000010.10:g.16557512AT[1]

Select item 148741461216.

rs1487414612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:16519689 (GRCh38)
10:16561688 (GRCh37)
Canonical SPDI:: NC_000010.11:16519688:G:A
Gene:: C1QL3 (Varview)
Functional Consequence:: 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_000010.11:g.16519689G>A, NC_000010.10:g.16561688G>A

Select item 148738542417.

rs1487385424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:16520120 (GRCh38)
10:16562119 (GRCh37)
Canonical SPDI:: NC_000010.11:16520119:T:C
Gene:: C1QL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.16520120T>C, NC_000010.10:g.16562119T>C

Select item 148731496518.

rs1487314965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16519232 (GRCh38)
10:16561231 (GRCh37)
Canonical SPDI:: NC_000010.11:16519231:A:G
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.16519232A>G, NC_000010.10:g.16561231A>G

Select item 148688711319.

rs1486887113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:16515290 (GRCh38)
10:16557289 (GRCh37)
Canonical SPDI:: NC_000010.11:16515289:C:G,NC_000010.11:16515289:C:T
Gene:: PTER (Varview), C1QL3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.16515290C>G, NC_000010.11:g.16515290C>T, NC_000010.10:g.16557289C>G, NC_000010.10:g.16557289C>T

Select item 148660358520.

rs1486603585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:16523534 (GRCh38)
10:16565533 (GRCh37)
Canonical SPDI:: NC_000010.11:16523533:T:C
Gene:: C1QL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.16523534T>C, NC_000010.10:g.16565533T>C

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