SNP Links for Gene (Select 23549) - SNP

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Select item 14911357511.

rs1491135751 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:219383335 (GRCh38)
2:220248058 (GRCh37)
Canonical SPDI:: NC_000002.12:219383335:T:TT
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.219383336dup, NC_000002.11:g.220248058dup

Select item 14910498582.

rs1491049858 has merged into rs386392672 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:219377288 (GRCh38)
2:220242010 (GRCh37)
Canonical SPDI:: NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219377277:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAA=0.3069/1537 (1000Genomes)
HGVS:: NC_000002.12:g.219377288_219377305del, NC_000002.12:g.219377290_219377305del, NC_000002.12:g.219377291_219377305del, NC_000002.12:g.219377292_219377305del, NC_000002.12:g.219377293_219377305del, NC_000002.12:g.219377294_219377305del, NC_000002.12:g.219377295_219377305del, NC_000002.12:g.219377296_219377305del, NC_000002.12:g.219377297_219377305del, NC_000002.12:g.219377298_219377305del, NC_000002.12:g.219377299_219377305del, NC_000002.12:g.219377300_219377305del, NC_000002.12:g.219377301_219377305del, NC_000002.12:g.219377302_219377305del, NC_000002.12:g.219377303_219377305del, NC_000002.12:g.219377304_219377305del, NC_000002.12:g.219377305del, NC_000002.12:g.219377305dup, NC_000002.12:g.219377304_219377305dup, NC_000002.12:g.219377303_219377305dup, NC_000002.12:g.219377302_219377305dup, NC_000002.12:g.219377301_219377305dup, NC_000002.12:g.219377300_219377305dup, NC_000002.12:g.219377299_219377305dup, NC_000002.12:g.219377294_219377305dup, NC_000002.11:g.220242010_220242027del, NC_000002.11:g.220242012_220242027del, NC_000002.11:g.220242013_220242027del, NC_000002.11:g.220242014_220242027del, NC_000002.11:g.220242015_220242027del, NC_000002.11:g.220242016_220242027del, NC_000002.11:g.220242017_220242027del, NC_000002.11:g.220242018_220242027del, NC_000002.11:g.220242019_220242027del, NC_000002.11:g.220242020_220242027del, NC_000002.11:g.220242021_220242027del, NC_000002.11:g.220242022_220242027del, NC_000002.11:g.220242023_220242027del, NC_000002.11:g.220242024_220242027del, NC_000002.11:g.220242025_220242027del, NC_000002.11:g.220242026_220242027del, NC_000002.11:g.220242027del, NC_000002.11:g.220242027dup, NC_000002.11:g.220242026_220242027dup, NC_000002.11:g.220242025_220242027dup, NC_000002.11:g.220242024_220242027dup, NC_000002.11:g.220242023_220242027dup, NC_000002.11:g.220242022_220242027dup, NC_000002.11:g.220242021_220242027dup, NC_000002.11:g.220242016_220242027dup

Select item 14909311943.

rs1490931194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219381984 (GRCh38)
2:220246706 (GRCh37)
Canonical SPDI:: NC_000002.12:219381983:G:T
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.219381984G>T, NC_000002.11:g.220246706G>T, NM_012100.4:c.1092C>A, NM_012100.3:c.1092C>A, NM_012100.2:c.1092C>A, NM_001319119.2:c.1050C>A, NM_001319119.1:c.1050C>A, NM_001319116.2:c.1116C>A, NM_001319116.1:c.1116C>A, NM_001319122.2:c.933C>A, NM_001319122.1:c.933C>A, NM_001319118.2:c.1050C>A, NM_001319118.1:c.1050C>A, NM_001319121.2:c.933C>A, NM_001319121.1:c.933C>A, NM_001319120.2:c.984C>A, NM_001319120.1:c.984C>A, NM_001319117.2:c.1008C>A, NM_001319117.1:c.1008C>A, NR_134970.2:n.1026C>A, NR_134970.1:n.1054C>A, NP_036232.2:p.Asn364Lys, NP_001306048.1:p.Asn350Lys, NP_001306045.1:p.Asn372Lys, NP_001306051.1:p.Asn311Lys, NP_001306047.1:p.Asn350Lys, NP_001306050.1:p.Asn311Lys, NP_001306049.1:p.Asn328Lys, NP_001306046.1:p.Asn336Lys

Select item 14908622994.

rs1490862299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219398160 (GRCh38)
2:220262882 (GRCh37)
Canonical SPDI:: NC_000002.12:219398159:C:A,NC_000002.12:219398159:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.219398160C>A, NC_000002.12:g.219398160C>T, NC_000002.11:g.220262882C>A, NC_000002.11:g.220262882C>T

Select item 14906723745.

rs1490672374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219380298 (GRCh38)
2:220245020 (GRCh37)
Canonical SPDI:: NC_000002.12:219380297:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.219380298G>A, NC_000002.11:g.220245020G>A

Select item 14906363486.

rs1490636348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219374821 (GRCh38)
2:220239543 (GRCh37)
Canonical SPDI:: NC_000002.12:219374820:C:A
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.219374821C>A, NC_000002.11:g.220239543C>A

Select item 14904102147.

rs1490410214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219375137 (GRCh38)
2:220239859 (GRCh37)
Canonical SPDI:: NC_000002.12:219375136:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219375137G>A, NC_000002.11:g.220239859G>A

Select item 14903928748.

rs1490392874 [Homo sapiens]

Variant type:: DEL
Alleles:: CCCGCC>- [Show Flanks]
Chromosome:: 2:219388644 (GRCh38)
2:220253366 (GRCh37)
Canonical SPDI:: NC_000002.12:219388643:CCCGCC:
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000177/3 (TOMMO)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.219388644_219388649del, NC_000002.11:g.220253366_220253371del, XR_923918.4:n.291_296del, XR_923918.3:n.71_76del, XR_923918.2:n.291_296del, XR_923918.1:n.291_296del, XR_923920.3:n.291_296del, XR_923920.1:n.291_296del, XR_923919.3:n.42_47del, XR_923919.1:n.291_296del

Select item 14903541599.

rs1490354159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219373910 (GRCh38)
2:220238632 (GRCh37)
Canonical SPDI:: NC_000002.12:219373909:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.219373910G>A, NC_000002.11:g.220238632G>A, NM_012100.4:c.*382C>T, NM_012100.3:c.*382C>T, NM_012100.2:c.*382C>T, NM_001319119.2:c.*382C>T, NM_001319119.1:c.*382C>T, NM_001319116.2:c.*382C>T, NM_001319116.1:c.*382C>T, NM_001319122.2:c.*382C>T, NM_001319122.1:c.*382C>T, NM_001319118.2:c.*382C>T, NM_001319118.1:c.*382C>T, NM_001319121.2:c.*382C>T, NM_001319120.2:c.*382C>T, NM_001319120.1:c.*382C>T, NM_001319117.2:c.*382C>T, NM_001319117.1:c.*382C>T, NR_134970.2:n.1774C>T, NR_134970.1:n.1802C>T

Select item 149034857110.

rs1490348571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219382666 (GRCh38)
2:220247388 (GRCh37)
Canonical SPDI:: NC_000002.12:219382665:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.219382666G>A, NC_000002.11:g.220247388G>A

Select item 149034470311.

rs1490344703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:219374338 (GRCh38)
2:220239060 (GRCh37)
Canonical SPDI:: NC_000002.12:219374337:A:C
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219374338A>C, NC_000002.11:g.220239060A>C, NM_012100.4:c.1412T>G, NM_012100.3:c.1412T>G, NM_012100.2:c.1412T>G, NM_001319119.2:c.1370T>G, NM_001319119.1:c.1370T>G, NM_001319116.2:c.1436T>G, NM_001319116.1:c.1436T>G, NM_001319122.2:c.1253T>G, NM_001319122.1:c.1253T>G, NM_001319118.2:c.1370T>G, NM_001319118.1:c.1370T>G, NM_001319121.2:c.1253T>G, NM_001319121.1:c.1253T>G, NM_001319120.2:c.1304T>G, NM_001319120.1:c.1304T>G, NM_001319117.2:c.1328T>G, NM_001319117.1:c.1328T>G, NR_134970.2:n.1346T>G, NR_134970.1:n.1374T>G, NP_036232.2:p.Phe471Cys, NP_001306048.1:p.Phe457Cys, NP_001306045.1:p.Phe479Cys, NP_001306051.1:p.Phe418Cys, NP_001306047.1:p.Phe457Cys, NP_001306050.1:p.Phe418Cys, NP_001306049.1:p.Phe435Cys, NP_001306046.1:p.Phe443Cys

Select item 149024909412.

rs1490249094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219398697 (GRCh38)
2:220263419 (GRCh37)
Canonical SPDI:: NC_000002.12:219398696:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.219398697C>T, NC_000002.11:g.220263419C>T

Select item 149018358313.

rs1490183583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219391679 (GRCh38)
2:220256401 (GRCh37)
Canonical SPDI:: NC_000002.12:219391678:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000002.12:g.219391679C>T, NC_000002.11:g.220256401C>T

Select item 149013225614.

rs1490132256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219390720 (GRCh38)
2:220255442 (GRCh37)
Canonical SPDI:: NC_000002.12:219390719:C:T
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000002.12:g.219390720C>T, NC_000002.11:g.220255442C>T

Select item 149011730415.

rs1490117304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219390600 (GRCh38)
2:220255322 (GRCh37)
Canonical SPDI:: NC_000002.12:219390599:A:G
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.219390600A>G, NC_000002.11:g.220255322A>G

Select item 149008412716.

rs1490084127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219376195 (GRCh38)
2:220240917 (GRCh37)
Canonical SPDI:: NC_000002.12:219376194:A:G
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219376195A>G, NC_000002.11:g.220240917A>G

Select item 149003154017.

rs1490031540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219385354 (GRCh38)
2:220250076 (GRCh37)
Canonical SPDI:: NC_000002.12:219385353:G:A
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219385354G>A, NC_000002.11:g.220250076G>A

Select item 148990319818.

rs1489903198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219389069 (GRCh38)
2:220253791 (GRCh37)
Canonical SPDI:: NC_000002.12:219389068:G:A
Gene:: DNPEP (Varview), DNPEP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219389069G>A, NC_000002.11:g.220253791G>A

Select item 148989013519.

rs1489890135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:219381338 (GRCh38)
2:220246061 (GRCh37)
Canonical SPDI:: NC_000002.12:219381338:A:AA
Gene:: DNPEP (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.219381339dup, NC_000002.11:g.220246061dup, NM_012100.4:c.1235dup, NM_012100.3:c.1235dup, NM_012100.2:c.1235dup, NM_001319119.2:c.1193dup, NM_001319119.1:c.1193dup, NM_001319116.2:c.1259dup, NM_001319116.1:c.1259dup, NM_001319122.2:c.1076dup, NM_001319122.1:c.1076dup, NM_001319118.2:c.1193dup, NM_001319118.1:c.1193dup, NM_001319121.2:c.1076dup, NM_001319121.1:c.1076dup, NM_001319120.2:c.1127dup, NM_001319120.1:c.1127dup, NM_001319117.2:c.1151dup, NM_001319117.1:c.1151dup, NR_134970.2:n.1169dup, NR_134970.1:n.1197dup, NP_036232.2:p.Gln413fs, NP_001306048.1:p.Gln399fs, NP_001306045.1:p.Gln421fs, NP_001306051.1:p.Gln360fs, NP_001306047.1:p.Gln399fs, NP_001306050.1:p.Gln360fs, NP_001306049.1:p.Gln377fs, NP_001306046.1:p.Gln385fs

Select item 148986462220.

rs1489864622 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 2:219374576 (GRCh38)
2:220239298 (GRCh37)
Canonical SPDI:: NC_000002.12:219374574:TCTT:T
Gene:: DNPEP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.219374576_219374578del, NC_000002.11:g.220239298_220239300del

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