SNP Links for Gene (Select 79717) - SNP

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Select item 14914459671.

rs1491445967 has merged into rs59732163 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 1:42466568 (GRCh38)
1:42932239 (GRCh37)
Canonical SPDI:: NC_000001.11:42466557:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:42466557:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42466557:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0006/5 (ALFA)
-=0.2876/172 (NorthernSweden)
-=0.3627/1398 (ALSPAC)
-=0.3676/1363 (TWINSUK)
-=0.4722/2365 (1000Genomes)
HGVS:: NC_000001.11:g.42466568_42466569del, NC_000001.11:g.42466569del, NC_000001.11:g.42466569dup, NC_000001.10:g.42932239_42932240del, NC_000001.10:g.42932240del, NC_000001.10:g.42932240dup

Select item 14913081702.

rs1491308170 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:42466558 (GRCh38)
1:42932230 (GRCh37)
Canonical SPDI:: NC_000001.11:42466558::G
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.42466558_42466559insG, NC_000001.10:g.42932229_42932230insG

Select item 14907394173.

rs1490739417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42472633 (GRCh38)
1:42938304 (GRCh37)
Canonical SPDI:: NC_000001.11:42472632:A:C
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.42472633A>C, NC_000001.10:g.42938304A>C

Select item 14907010854.

rs1490701085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:42456366 (GRCh38)
1:42922037 (GRCh37)
Canonical SPDI:: NC_000001.11:42456365:C:A,NC_000001.11:42456365:C:T
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.42456366C>A, NC_000001.11:g.42456366C>T, NC_000001.10:g.42922037C>A, NC_000001.10:g.42922037C>T, NM_001355226.2:c.-1117C>A, NM_001355226.2:c.-1117C>T, NM_001355226.1:c.-1117C>A, NM_001355226.1:c.-1117C>T, NM_001287507.1:c.-461C>A, NM_001287507.1:c.-461C>T, NM_001287506.1:c.-145C>A, NM_001287506.1:c.-145C>T

Select item 14904779005.

rs1490477900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42455964 (GRCh38)
1:42921635 (GRCh37)
Canonical SPDI:: NC_000001.11:42455963:C:T
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42455964C>T, NC_000001.10:g.42921635C>T, NM_032257.5:c.34G>A, NM_032257.4:c.34G>A, NM_001146192.2:c.-125G>A, NM_001146192.1:c.-125G>A, NP_115633.3:p.Gly12Arg

Select item 14902553216.

rs1490255321 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 1:42461551 (GRCh38)
1:42927223 (GRCh37)
Canonical SPDI:: NC_000001.11:42461551::C,NC_000001.11:42461551::G
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.42461551_42461552insC, NC_000001.11:g.42461551_42461552insG, NC_000001.10:g.42927222_42927223insC, NC_000001.10:g.42927222_42927223insG

Select item 14901067377.

rs1490106737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42462658 (GRCh38)
1:42928329 (GRCh37)
Canonical SPDI:: NC_000001.11:42462657:A:C
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42462658A>C, NC_000001.10:g.42928329A>C

Select item 14899453188.

rs1489945318 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:42462126 (GRCh38)
1:42927797 (GRCh37)
Canonical SPDI:: NC_000001.11:42462125:AG:
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.42462126_42462127del, NC_000001.10:g.42927797_42927798del

Select item 14899044129.

rs1489904412 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:42468931 (GRCh38)
1:42934602 (GRCh37)
Canonical SPDI:: NC_000001.11:42468930:GG:G
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000001.11:g.42468932del, NC_000001.10:g.42934603del

Select item 148983344710.

rs1489833447 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:42454721 (GRCh38)
1:42920392 (GRCh37)
Canonical SPDI:: NC_000001.11:42454720:G:
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.42454721del, NC_000001.10:g.42920392del

Select item 148929616611.

rs1489296166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42469085 (GRCh38)
1:42934756 (GRCh37)
Canonical SPDI:: NC_000001.11:42469084:A:C
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42469085A>C, NC_000001.10:g.42934756A>C

Select item 148915387412.

rs1489153874 has merged into rs1198149050 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTTT>-,TGTTTTTGTTTT [Show Flanks]
Chromosome:: 1:42465362 (GRCh38)
1:42931033 (GRCh37)
Canonical SPDI:: NC_000001.11:42465345:TTTTTGTTTTTGTTTTTGTTTT:TTTTTGTTTTTGTTTT,NC_000001.11:42465345:TTTTTGTTTTTGTTTTTGTTTT:TTTTTGTTTTTGTTTTTGTTTTTGTTTT
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTGTTTTTGTTTTTGTTTTTGTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
TTTTTG=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.42465350TGTTTT[2], NC_000001.11:g.42465350TGTTTT[4], NC_000001.10:g.42931021TGTTTT[2], NC_000001.10:g.42931021TGTTTT[4]

Select item 148906177413.

rs1489061774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:42468713 (GRCh38)
1:42934384 (GRCh37)
Canonical SPDI:: NC_000001.11:42468710:AGAG:AG
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42468711AG[1], NC_000001.10:g.42934382AG[1]

Select item 148903162214.

rs1489031622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42467552 (GRCh38)
1:42933223 (GRCh37)
Canonical SPDI:: NC_000001.11:42467551:G:T
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.42467552G>T, NC_000001.10:g.42933223G>T

Select item 148893007615.

rs1488930076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42472211 (GRCh38)
1:42937882 (GRCh37)
Canonical SPDI:: NC_000001.11:42472210:C:T
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42472211C>T, NC_000001.10:g.42937882C>T

Select item 148867565016.

rs1488675650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42473356 (GRCh38)
1:42939027 (GRCh37)
Canonical SPDI:: NC_000001.11:42473355:C:T
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.42473356C>T, NC_000001.10:g.42939027C>T, NM_001287511.2:c.*112C>T, NM_001287511.1:c.*112C>T

Select item 148845200017.

rs1488452000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42460230 (GRCh38)
1:42925901 (GRCh37)
Canonical SPDI:: NC_000001.11:42460229:G:T
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.42460230G>T, NC_000001.10:g.42925901G>T, NM_024664.4:c.*304G>T, NM_024664.3:c.*304G>T, NM_024664.2:c.*304G>T, NM_001077447.3:c.*304G>T, NM_001077447.2:c.*304G>T, NM_001077447.1:c.*304G>T, NM_001287510.2:c.*304G>T, NM_001287510.1:c.*304G>T, NM_001287508.2:c.*304G>T, NM_001287508.1:c.*304G>T, NM_001287509.2:c.*304G>T, NM_001287509.1:c.*304G>T, NM_001287507.1:c.*304G>T, NM_001287506.1:c.*304G>T

Select item 148842240618.

rs1488422406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:42473696 (GRCh38)
1:42939367 (GRCh37)
Canonical SPDI:: NC_000001.11:42473695:A:T
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_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_000001.11:g.42473696A>T, NC_000001.10:g.42939367A>T

Select item 148838887019.

rs1488388870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42472540 (GRCh38)
1:42938211 (GRCh37)
Canonical SPDI:: NC_000001.11:42472539:T:C
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.42472540T>C, NC_000001.10:g.42938211T>C

Select item 148817124220.

rs1488171242 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:42465711 (GRCh38)
1:42931382 (GRCh37)
Canonical SPDI:: NC_000001.11:42465710:T:
Gene:: PPCS (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000001.11:g.42465711del, NC_000001.10:g.42931382del

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