SNP Links for Gene (Select 105375504) - SNP

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Select item 14897165321.

rs1489716532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:130365905 (GRCh38)
7:130005746 (GRCh37)
Canonical SPDI:: NC_000007.14:130365904:G:A,NC_000007.14:130365904:G:C
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000223/1 (Estonian)
A=0.006667/4 (NorthernSweden)
HGVS:: NC_000007.14:g.130365905G>A, NC_000007.14:g.130365905G>C, NC_000007.13:g.130005746G>A, NC_000007.13:g.130005746G>C, NW_003871065.1:g.21323G>A, NW_003871065.1:g.21323G>C

Select item 14885257202.

rs1488525720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130368878 (GRCh38)
7:130008719 (GRCh37)
Canonical SPDI:: NC_000007.14:130368877:G:A
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.130368878G>A, NC_000007.13:g.130008719G>A, NW_003871065.1:g.24296G>A

Select item 14877706043.

rs1487770604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTA>- [Show Flanks]
Chromosome:: 7:130366954 (GRCh38)
7:130006795 (GRCh37)
Canonical SPDI:: NC_000007.14:130366952:ATATTA:A
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130366954_130366958del, NC_000007.13:g.130006795_130006799del, NW_003871065.1:g.22372_22376del, NR_133928.1:n.171_175del

Select item 14866360624.

rs1486636062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130367226 (GRCh38)
7:130007067 (GRCh37)
Canonical SPDI:: NC_000007.14:130367225:C:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130367226C>T, NC_000007.13:g.130007067C>T, NW_003871065.1:g.22644C>T

Select item 14857522345.

rs1485752234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130368752 (GRCh38)
7:130008593 (GRCh37)
Canonical SPDI:: NC_000007.14:130368751:T:C
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130368752T>C, NC_000007.13:g.130008593T>C, NW_003871065.1:g.24170T>C

Select item 14846732686.

rs1484673268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130368127 (GRCh38)
7:130007968 (GRCh37)
Canonical SPDI:: NC_000007.14:130368126:G:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130368127G>T, NC_000007.13:g.130007968G>T, NW_003871065.1:g.23545G>T

Select item 14837140027.

rs1483714002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:130365709 (GRCh38)
7:130005550 (GRCh37)
Canonical SPDI:: NC_000007.14:130365708:C:A,NC_000007.14:130365708:C:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: non_coding_transcript_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_000007.14:g.130365709C>A, NC_000007.14:g.130365709C>T, NC_000007.13:g.130005550C>A, NC_000007.13:g.130005550C>T, NW_003871065.1:g.21127C>A, NW_003871065.1:g.21127C>T, NR_133928.1:n.459G>T, NR_133928.1:n.459G>A

Select item 14817721188.

rs1481772118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:130366674 (GRCh38)
7:130006515 (GRCh37)
Canonical SPDI:: NC_000007.14:130366673:C:G
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130366674C>G, NC_000007.13:g.130006515C>G, NW_003871065.1:g.22092C>G

Select item 14800346939.

rs1480034693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130368046 (GRCh38)
7:130007887 (GRCh37)
Canonical SPDI:: NC_000007.14:130368045:G:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130368046G>T, NC_000007.13:g.130007887G>T, NW_003871065.1:g.23464G>T

Select item 147794642910.

rs1477946429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:130365388 (GRCh38)
7:130005229 (GRCh37)
Canonical SPDI:: NC_000007.14:130365387:G:C
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130365388G>C, NC_000007.13:g.130005229G>C, NW_003871065.1:g.20806G>C

Select item 147786016611.

rs1477860166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130366370 (GRCh38)
7:130006211 (GRCh37)
Canonical SPDI:: NC_000007.14:130366369:A:G
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000007.14:g.130366370A>G, NC_000007.13:g.130006211A>G, NW_003871065.1:g.21788A>G, XM_047421039.1:c.*77A>G

Select item 147766951012.

rs1477669510 has merged into rs879950318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130366498 (GRCh38)
7:130006339 (GRCh37)
Canonical SPDI:: NC_000007.14:130366497:G:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130366498G>T, NC_000007.13:g.130006339G>T, NW_003871065.1:g.21916G>T

Select item 147763411613.

rs1477634116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130365886 (GRCh38)
7:130005727 (GRCh37)
Canonical SPDI:: NC_000007.14:130365885:A:G
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: intron_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_000007.14:g.130365886A>G, NC_000007.13:g.130005727A>G, NW_003871065.1:g.21304A>G

Select item 147740772614.

rs1477407726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:130365398 (GRCh38)
7:130005239 (GRCh37)
Canonical SPDI:: NC_000007.14:130365397:T:A,NC_000007.14:130365397:T:C
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.130365398T>A, NC_000007.14:g.130365398T>C, NC_000007.13:g.130005239T>A, NC_000007.13:g.130005239T>C, NW_003871065.1:g.20816T>A, NW_003871065.1:g.20816T>C

Select item 147594725515.

rs1475947255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130366263 (GRCh38)
7:130006104 (GRCh37)
Canonical SPDI:: NC_000007.14:130366262:T:C
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000007.14:g.130366263T>C, NC_000007.13:g.130006104T>C, NW_003871065.1:g.21681T>C, XM_047421039.1:c.897T>C

Select item 147561964516.

rs1475619645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:130366812 (GRCh38)
7:130006653 (GRCh37)
Canonical SPDI:: NC_000007.14:130366811:G:T
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.130366812G>T, NC_000007.13:g.130006653G>T, NW_003871065.1:g.22230G>T

Select item 147462729817.

rs1474627298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130365242 (GRCh38)
7:130005083 (GRCh37)
Canonical SPDI:: NC_000007.14:130365241:A:G
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000076/20 (TOPMED)
HGVS:: NC_000007.14:g.130365242A>G, NC_000007.13:g.130005083A>G, NW_003871065.1:g.20660A>G

Select item 147362231618.

rs1473622316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130368618 (GRCh38)
7:130008459 (GRCh37)
Canonical SPDI:: NC_000007.14:130368617:G:A
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130368618G>A, NC_000007.13:g.130008459G>A, NW_003871065.1:g.24036G>A, NM_080385.5:c.*21G>A, NM_080385.4:c.*21G>A, NM_001127441.2:c.*21G>A, NM_001127441.1:c.*21G>A, XM_024446999.2:c.*21G>A, XM_024446999.1:c.*21G>A, XM_005250710.2:c.*21G>A, XM_005250710.1:c.*21G>A, XM_024447000.2:c.*21G>A, XM_024447000.1:c.*21G>A, NM_001318223.2:c.*21G>A, NM_001318223.1:c.*21G>A, XM_005250712.2:c.*21G>A, XM_005250712.1:c.*21G>A, XM_024447001.2:c.*21G>A, XM_024447001.1:c.*21G>A, NM_001127442.2:c.*35G>A, NM_001127442.1:c.*35G>A, XM_011516698.2:c.*21G>A, XM_011516698.1:c.*21G>A, XM_011516703.2:c.*21G>A, XM_011516703.1:c.*21G>A, XR_007060171.1:n.1873G>A, XR_007060172.1:n.1788G>A, XM_047421035.1:c.*21G>A, XM_047421036.1:c.*21G>A, XM_047421037.1:c.*21G>A, XM_047421038.1:c.*35G>A

Select item 147265444519.

rs1472654445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:130366234 (GRCh38)
7:130006075 (GRCh37)
Canonical SPDI:: NC_000007.14:130366233:C:A
Gene:: CPA5 (Varview), LOC105375504 (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_000007.14:g.130366234C>A, NC_000007.13:g.130006075C>A, NW_003871065.1:g.21652C>A, XM_047421039.1:c.868C>A, XP_047276995.1:p.Pro290Thr

Select item 147009708820.

rs1470097088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:130367070 (GRCh38)
7:130006911 (GRCh37)
Canonical SPDI:: NC_000007.14:130367069:G:A
Gene:: CPA5 (Varview), LOC105375504 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000086/12 (GnomAD)
HGVS:: NC_000007.14:g.130367070G>A, NC_000007.13:g.130006911G>A, NW_003871065.1:g.22488G>A, NR_133928.1:n.58C>T

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