SNP Links for Gene (Select 56931) - SNP

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Select item 14914458611.

rs1491445861 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:5787222 (GRCh38)
19:5787233 (GRCh37)
Canonical SPDI:: NC_000019.10:5787221:AC:
Gene:: DUS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (ExAC)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5787222_5787223del, NC_000019.9:g.5787233_5787234del

Select item 14912146352.

rs1491214635 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:5784989 (GRCh38)
19:5785001 (GRCh37)
Canonical SPDI:: NC_000019.10:5784989:GGG:GGGG
Gene:: DUS3L (Varview), PRR22 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.5784992dup, NC_000019.9:g.5785003dup

Select item 14910005903.

rs1491000590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5789683 (GRCh38)
19:5789694 (GRCh37)
Canonical SPDI:: NC_000019.10:5789682:G:A
Gene:: DUS3L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.5789683G>A, NC_000019.9:g.5789694G>A, NM_020175.3:c.424C>T, NM_020175.2:c.424C>T, XM_017027020.2:c.424C>T, XM_017027020.1:c.424C>T, XR_244033.2:n.446C>T, XR_244033.1:n.493C>T, XM_047439111.1:c.424C>T, NP_064560.2:p.Arg142Cys, XP_016882509.1:p.Arg142Cys, XP_047295067.1:p.Arg142Cys

Select item 14909939014.

rs1490993901 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGTGGGAGACGGAGAAGGTGGG [Show Flanks]
Chromosome:: 19:5787200 (GRCh38)
19:5787212 (GRCh37)
Canonical SPDI:: NC_000019.10:5787200:G:GGTGGTGGGAGACGGAGAAGGTGGG
Gene:: DUS3L (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.5787201GGT[2]GGGAGACGGAGAAGGTGGG[1], NC_000019.9:g.5787212GGT[2]GGGAGACGGAGAAGGTGGG[1]

Select item 14908526885.

rs1490852688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:5791078 (GRCh38)
19:5791089 (GRCh37)
Canonical SPDI:: NC_000019.10:5791077:C:G,NC_000019.10:5791077:C:T
Gene:: DUS3L (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./0 (GnomAD)
HGVS:: NC_000019.10:g.5791078C>G, NC_000019.10:g.5791078C>T, NC_000019.9:g.5791089C>G, NC_000019.9:g.5791089C>T, NM_020175.3:c.64G>C, NM_020175.3:c.64G>A, NM_020175.2:c.64G>C, NM_020175.2:c.64G>A, XM_017027020.2:c.64G>C, XM_017027020.2:c.64G>A, XM_017027020.1:c.64G>C, XM_017027020.1:c.64G>A, XR_244033.2:n.86G>C, XR_244033.2:n.86G>A, XR_244033.1:n.133G>C, XR_244033.1:n.133G>A, NM_001161619.2:c.64G>C, NM_001161619.2:c.64G>A, NM_001161619.1:c.64G>C, NM_001161619.1:c.64G>A, XM_047439111.1:c.64G>C, XM_047439111.1:c.64G>A, NP_064560.2:p.Ala22Pro, NP_064560.2:p.Ala22Thr, XP_016882509.1:p.Ala22Pro, XP_016882509.1:p.Ala22Thr, NP_001155091.1:p.Ala22Pro, NP_001155091.1:p.Ala22Thr, XP_047295067.1:p.Ala22Pro, XP_047295067.1:p.Ala22Thr

Select item 14904900726.

rs1490490072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:5785691 (GRCh38)
19:5785702 (GRCh37)
Canonical SPDI:: NC_000019.10:5785690:T:C
Gene:: DUS3L (Varview), PRR22 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5785691T>C, NC_000019.9:g.5785702T>C, NM_020175.3:c.1663A>G, NM_020175.2:c.1663A>G, XM_017027020.2:c.1621A>G, XM_017027020.1:c.1621A>G, NM_001161619.2:c.937A>G, NM_001161619.1:c.937A>G, NP_064560.2:p.Asn555Asp, XP_016882509.1:p.Asn541Asp, NP_001155091.1:p.Asn313Asp

Select item 14904449887.

rs1490444988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:5791941 (GRCh38)
19:5791952 (GRCh37)
Canonical SPDI:: NC_000019.10:5791940:T:C,NC_000019.10:5791940:T:G
Gene:: DUS3L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00141/23 (ALFA)
C=0.00057/9 (TOMMO)
G=0.00546/10 (Korea1K)
C=0.00616/18 (KOREAN)
HGVS:: NC_000019.10:g.5791941T>C, NC_000019.10:g.5791941T>G, NC_000019.9:g.5791952T>C, NC_000019.9:g.5791952T>G

Select item 14903431418.

rs1490343141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:5788745 (GRCh38)
19:5788756 (GRCh37)
Canonical SPDI:: NC_000019.10:5788744:T:G
Gene:: DUS3L (Varview)
Functional Consequence:: 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_000019.10:g.5788745T>G, NC_000019.9:g.5788756T>G

Select item 14901818659.

rs1490181865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5789438 (GRCh38)
19:5789449 (GRCh37)
Canonical SPDI:: NC_000019.10:5789437:G:A
Gene:: DUS3L (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5789438G>A, NC_000019.9:g.5789449G>A, NM_020175.3:c.669C>T, NM_020175.2:c.669C>T, XM_017027020.2:c.669C>T, XM_017027020.1:c.669C>T, XR_244033.2:n.691C>T, XR_244033.1:n.738C>T, XM_047439111.1:c.669C>T

Select item 148999997610.

rs1489999976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5787051 (GRCh38)
19:5787062 (GRCh37)
Canonical SPDI:: NC_000019.10:5787050:C:T
Gene:: DUS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.5787051C>T, NC_000019.9:g.5787062C>T

Select item 148932377211.

rs1489323772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5789773 (GRCh38)
19:5789784 (GRCh37)
Canonical SPDI:: NC_000019.10:5789772:C:T
Gene:: DUS3L (Varview)
Functional Consequence:: intron_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_000019.10:g.5789773C>T, NC_000019.9:g.5789784C>T

Select item 148917767812.

rs1489177678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:5792169 (GRCh38)
19:5792180 (GRCh37)
Canonical SPDI:: NC_000019.10:5792168:G:A,NC_000019.10:5792168:G:C
Gene:: DUS3L (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)
HGVS:: NC_000019.10:g.5792169G>A, NC_000019.10:g.5792169G>C, NC_000019.9:g.5792180G>A, NC_000019.9:g.5792180G>C

Select item 148814659613.

rs1488146596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5787087 (GRCh38)
19:5787098 (GRCh37)
Canonical SPDI:: NC_000019.10:5787086:G:A
Gene:: DUS3L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5787087G>A, NC_000019.9:g.5787098G>A, NM_020175.3:c.1363C>T, NM_020175.2:c.1363C>T, XM_017027020.2:c.1321C>T, XM_017027020.1:c.1321C>T, XR_244033.2:n.1385C>T, XR_244033.1:n.1432C>T, NM_001161619.2:c.637C>T, NM_001161619.1:c.637C>T, XM_047439111.1:c.1363C>T, NP_064560.2:p.Arg455Trp, XP_016882509.1:p.Arg441Trp, NP_001155091.1:p.Arg213Trp, XP_047295067.1:p.Arg455Trp

Select item 148809562214.

rs1488095622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:5791779 (GRCh38)
19:5791790 (GRCh37)
Canonical SPDI:: NC_000019.10:5791778:C:A,NC_000019.10:5791778:C:T
Gene:: DUS3L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5791779C>A, NC_000019.10:g.5791779C>T, NC_000019.9:g.5791790C>A, NC_000019.9:g.5791790C>T

Select item 148785497515.

rs1487854975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:5790261 (GRCh38)
19:5790272 (GRCh37)
Canonical SPDI:: NC_000019.10:5790260:T:A
Gene:: DUS3L (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5790261T>A, NC_000019.9:g.5790272T>A, NM_020175.3:c.173A>T, NM_020175.2:c.173A>T, XM_017027020.2:c.173A>T, XM_017027020.1:c.173A>T, XR_244033.2:n.195A>T, XR_244033.1:n.242A>T, NM_001161619.2:c.173A>T, NM_001161619.1:c.173A>T, XM_047439111.1:c.173A>T, NP_064560.2:p.Glu58Val, XP_016882509.1:p.Glu58Val, NP_001155091.1:p.Glu58Val, XP_047295067.1:p.Glu58Val

Select item 148723926316.

rs1487239263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:5784839 (GRCh38)
19:5784850 (GRCh37)
Canonical SPDI:: NC_000019.10:5784838:G:A,NC_000019.10:5784838:G:T
Gene:: DUS3L (Varview), PRR22 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.5784839G>A, NC_000019.10:g.5784839G>T, NC_000019.9:g.5784850G>A, NC_000019.9:g.5784850G>T

Select item 148702459817.

rs1487024598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5787404 (GRCh38)
19:5787415 (GRCh37)
Canonical SPDI:: NC_000019.10:5787403:G:A
Gene:: DUS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5787404G>A, NC_000019.9:g.5787415G>A

Select item 148675179818.

rs1486751798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:5792574 (GRCh38)
19:5792585 (GRCh37)
Canonical SPDI:: NC_000019.10:5792573:T:C
Gene:: DUS3L (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_000019.10:g.5792574T>C, NC_000019.9:g.5792585T>C

Select item 148652325919.

rs1486523259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:5785770 (GRCh38)
19:5785781 (GRCh37)
Canonical SPDI:: NC_000019.10:5785769:C:A
Gene:: DUS3L (Varview), PRR22 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5785770C>A, NC_000019.9:g.5785781C>A, NM_020175.3:c.1584G>T, NM_020175.2:c.1584G>T, XM_017027020.2:c.1542G>T, XM_017027020.1:c.1542G>T, NM_001161619.2:c.858G>T, NM_001161619.1:c.858G>T, XM_047439111.1:c.*29G>T, NP_064560.2:p.Trp528Cys, XP_016882509.1:p.Trp514Cys, NP_001155091.1:p.Trp286Cys

Select item 148648922720.

rs1486489227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:5786007 (GRCh38)
19:5786018 (GRCh37)
Canonical SPDI:: NC_000019.10:5786006:T:C
Gene:: DUS3L (Varview), PRR22 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_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_000019.10:g.5786007T>C, NC_000019.9:g.5786018T>C

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