SNP Links for Gene (Select 5678) - SNP

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Select item 14915334111.

rs1491533411 has merged into rs35986995 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43255112 (GRCh38)
19:43759264 (GRCh37)
Canonical SPDI:: NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43255105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSG9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.000543/7 (TOMMO)
AAAAAA=0.010417/6 (NorthernSweden)
HGVS:: NC_000019.10:g.43255112_43255120del, NC_000019.10:g.43255114_43255120del, NC_000019.10:g.43255115_43255120del, NC_000019.10:g.43255117_43255120del, NC_000019.10:g.43255118_43255120del, NC_000019.10:g.43255119_43255120del, NC_000019.10:g.43255120del, NC_000019.10:g.43255120dup, NC_000019.10:g.43255119_43255120dup, NC_000019.10:g.43255118_43255120dup, NC_000019.10:g.43255117_43255120dup, NC_000019.10:g.43255115_43255120dup, NC_000019.10:g.43255113_43255120dup, NC_000019.9:g.43759264_43759272del, NC_000019.9:g.43759266_43759272del, NC_000019.9:g.43759267_43759272del, NC_000019.9:g.43759269_43759272del, NC_000019.9:g.43759270_43759272del, NC_000019.9:g.43759271_43759272del, NC_000019.9:g.43759272del, NC_000019.9:g.43759272dup, NC_000019.9:g.43759271_43759272dup, NC_000019.9:g.43759270_43759272dup, NC_000019.9:g.43759269_43759272dup, NC_000019.9:g.43759267_43759272dup, NC_000019.9:g.43759265_43759272dup

Select item 14914211392.

rs1491421139 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:43255105 (GRCh38)
19:43759257 (GRCh37)
Canonical SPDI:: NC_000019.10:43255104:CA:
Gene:: PSG9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.43255105_43255106del, NC_000019.9:g.43759257_43759258del

Select item 14909205063.

rs1490920506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43264571 (GRCh38)
19:43768723 (GRCh37)
Canonical SPDI:: NC_000019.10:43264570:C:T
Gene:: PSG9 (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.43264571C>T, NC_000019.9:g.43768723C>T

Select item 14906792294.

rs1490679229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:43258739 (GRCh38)
19:43762891 (GRCh37)
Canonical SPDI:: NC_000019.10:43258738:C:G,NC_000019.10:43258738:C:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43258739C>G, NC_000019.10:g.43258739C>T, NC_000019.9:g.43762891C>G, NC_000019.9:g.43762891C>T

Select item 14905616175.

rs1490561617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43259484 (GRCh38)
19:43763636 (GRCh37)
Canonical SPDI:: NC_000019.10:43259483:C:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000019.10:g.43259484C>T, NC_000019.9:g.43763636C>T

Select item 14903243166.

rs1490324316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43263777 (GRCh38)
19:43767929 (GRCh37)
Canonical SPDI:: NC_000019.10:43263776:T:G
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.43263777T>G, NC_000019.9:g.43767929T>G

Select item 14901307817.

rs1490130781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43268426 (GRCh38)
19:43772578 (GRCh37)
Canonical SPDI:: NC_000019.10:43268425:G:C
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43268426G>C, NC_000019.9:g.43772578G>C

Select item 14900906168.

rs1490090616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43257921 (GRCh38)
19:43762073 (GRCh37)
Canonical SPDI:: NC_000019.10:43257920:T:C
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.00003/4 (GnomAD)
HGVS:: NC_000019.10:g.43257921T>C, NC_000019.9:g.43762073T>C, XM_005259075.5:c.*36A>G, NM_001411075.1:c.*36A>G

Select item 14900222539.

rs1490022253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43269223 (GRCh38)
19:43773375 (GRCh37)
Canonical SPDI:: NC_000019.10:43269222:C:T
Gene:: PSG9 (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.43269223C>T, NC_000019.9:g.43773375C>T

Select item 148996021410.

rs1489960214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43264906 (GRCh38)
19:43769058 (GRCh37)
Canonical SPDI:: NC_000019.10:43264905:G:A,NC_000019.10:43264905:G:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43264906G>A, NC_000019.10:g.43264906G>T, NC_000019.9:g.43769058G>A, NC_000019.9:g.43769058G>T

Select item 148980043011.

rs1489800430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43270522 (GRCh38)
19:43774674 (GRCh37)
Canonical SPDI:: NC_000019.10:43270521:C:A
Gene:: PSG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.43270522C>A, NC_000019.9:g.43774674C>A

Select item 148970077812.

rs1489700778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43265132 (GRCh38)
19:43769284 (GRCh37)
Canonical SPDI:: NC_000019.10:43265131:C:A
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43265132C>A, NC_000019.9:g.43769284C>A

Select item 148969298313.

rs1489692983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43259750 (GRCh38)
19:43763902 (GRCh37)
Canonical SPDI:: NC_000019.10:43259749:G:C
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43259750G>C, NC_000019.9:g.43763902G>C

Select item 148965597514.

rs1489655975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43259839 (GRCh38)
19:43763991 (GRCh37)
Canonical SPDI:: NC_000019.10:43259838:G:A
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.43259839G>A, NC_000019.9:g.43763991G>A

Select item 148961895115.

rs1489618951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:43261696 (GRCh38)
19:43765848 (GRCh37)
Canonical SPDI:: NC_000019.10:43261695:C:A,NC_000019.10:43261695:C:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.43261696C>A, NC_000019.10:g.43261696C>T, NC_000019.9:g.43765848C>A, NC_000019.9:g.43765848C>T

Select item 148954572616.

rs1489545726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:43269529 (GRCh38)
19:43773681 (GRCh37)
Canonical SPDI:: NC_000019.10:43269528:G:C
Gene:: PSG9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43269529G>C, NC_000019.9:g.43773681G>C, XM_005259075.5:c.-98C>G, NM_002784.5:c.-98C>G, NM_002784.4:c.-98C>G, NM_002784.3:c.-98C>G, XM_017027007.3:c.-98C>G, NM_001301708.2:c.-98C>G, NM_001301708.1:c.-98C>G, NM_001301707.2:c.-98C>G, NM_001301707.1:c.-98C>G, NM_001301709.2:c.-98C>G, NM_001301709.1:c.-98C>G, NM_001411075.1:c.-98C>G

Select item 148944727617.

rs1489447276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:43257372 (GRCh38)
19:43761524 (GRCh37)
Canonical SPDI:: NC_000019.10:43257371:A:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43257372A>T, NC_000019.9:g.43761524A>T, XM_005259075.5:c.*585T>A, NM_001411075.1:c.*585T>A

Select item 148930279018.

rs1489302790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43259465 (GRCh38)
19:43763617 (GRCh37)
Canonical SPDI:: NC_000019.10:43259464:G:T
Gene:: PSG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.43259465G>T, NC_000019.9:g.43763617G>T

Select item 148918413219.

rs1489184132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43253487 (GRCh38)
19:43757639 (GRCh37)
Canonical SPDI:: NC_000019.10:43253486:A:G
Gene:: PSG9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43253487A>G, NC_000019.9:g.43757639A>G, NM_002784.5:c.*122T>C, NM_002784.4:c.*122T>C, NM_002784.3:c.*122T>C, NM_001301708.2:c.*122T>C, NM_001301708.1:c.*122T>C, NM_001301707.2:c.*122T>C, NM_001301707.1:c.*122T>C, NM_001301709.2:c.*122T>C, NM_001301709.1:c.*122T>C

Select item 148917310120.

rs1489173101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:43266958 (GRCh38)
19:43771110 (GRCh37)
Canonical SPDI:: NC_000019.10:43266957:A:C
Gene:: PSG9 (Varview)
Functional Consequence:: intron_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.43266958A>C, NC_000019.9:g.43771110A>C

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