SNP Links for Gene (Select 79957) - SNP

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Items: 1 to 20 of 2403

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Select item 14915549091.

rs1491554909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:156248598 (GRCh38)
1:156218390 (GRCh37)
Canonical SPDI:: NC_000001.11:156248598:A:AA
Gene:: PAQR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000001.11:g.156248599dup, NC_000001.10:g.156218390dup

Select item 14911050012.

rs1491105001 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:156248598 (GRCh38)
1:156218389 (GRCh37)
Canonical SPDI:: NC_000001.11:156248597:CA:
Gene:: PAQR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156248598_156248599del, NC_000001.10:g.156218389_156218390del

Select item 14905671733.

rs1490567173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:156246436 (GRCh38)
1:156216227 (GRCh37)
Canonical SPDI:: NC_000001.11:156246435:A:C
Gene:: PAQR6 (Varview)
Functional Consequence:: 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_000001.11:g.156246436A>C, NC_000001.10:g.156216227A>C

Select item 14904108474.

rs1490410847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:156242875 (GRCh38)
1:156212666 (GRCh37)
Canonical SPDI:: NC_000001.11:156242874:G:A,NC_000001.11:156242874:G:T
Gene:: BGLAP (Varview), PAQR6 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156242875G>A, NC_000001.11:g.156242875G>T, NC_000001.10:g.156212666G>A, NC_000001.10:g.156212666G>T, NG_047015.1:g.5716G>A, NG_047015.1:g.5716G>T

Select item 14897848985.

rs1489784898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156250407 (GRCh38)
1:156220198 (GRCh37)
Canonical SPDI:: NC_000001.11:156250406:G:A
Gene:: SMG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156250407G>A, NC_000001.10:g.156220198G>A, NM_015327.3:c.*180C>T, NM_015327.2:c.*180C>T, NM_001323616.2:c.*180C>T, NM_001323616.1:c.*180C>T, NM_001323617.2:c.*180C>T, NM_001323617.1:c.*180C>T, NM_001323615.2:c.*180C>T, NM_001323615.1:c.*180C>T, NM_001323614.2:c.*180C>T, NM_001323614.1:c.*180C>T

Select item 14884298166.

rs1488429816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156248314 (GRCh38)
1:156218105 (GRCh37)
Canonical SPDI:: NC_000001.11:156248313:A:G
Gene:: PAQR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.156248314A>G, NC_000001.10:g.156218105A>G

Select item 14883777427.

rs1488377742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:156245698 (GRCh38)
1:156215489 (GRCh37)
Canonical SPDI:: NC_000001.11:156245697:G:A,NC_000001.11:156245697:G:C
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.156245698G>A, NC_000001.11:g.156245698G>C, NC_000001.10:g.156215489G>A, NC_000001.10:g.156215489G>C

Select item 14880682058.

rs1488068205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:156247216 (GRCh38)
1:156217007 (GRCh37)
Canonical SPDI:: NC_000001.11:156247215:C:G,NC_000001.11:156247215:C:T
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156247216C>G, NC_000001.11:g.156247216C>T, NC_000001.10:g.156217007C>G, NC_000001.10:g.156217007C>T

Select item 14877084209.

rs1487708420 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:156247083 (GRCh38)
1:156216874 (GRCh37)
Canonical SPDI:: NC_000001.11:156247082:GG:G
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156247084del, NC_000001.10:g.156216875del

Select item 148723982610.

rs1487239826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:156248252 (GRCh38)
1:156218043 (GRCh37)
Canonical SPDI:: NC_000001.11:156248251:G:C
Gene:: PAQR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.156248252G>C, NC_000001.10:g.156218043G>C, NG_076465.1:g.435G>C

Select item 148716435211.

rs1487164352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156249339 (GRCh38)
1:156219130 (GRCh37)
Canonical SPDI:: NC_000001.11:156249338:G:A
Gene:: SMG5 (Varview), PAQR6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156249339G>A, NC_000001.10:g.156219130G>A, NM_015327.3:c.*1248C>T, NM_015327.2:c.*1248C>T, NM_001323616.2:c.*1248C>T, NM_001323616.1:c.*1248C>T, NM_001323617.2:c.*1248C>T, NM_001323617.1:c.*1248C>T, NM_001323615.2:c.*1248C>T, NM_001323615.1:c.*1248C>T, NM_001323614.2:c.*1248C>T, NM_001323614.1:c.*1248C>T

Select item 148713348312.

rs1487133483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:156249631 (GRCh38)
1:156219422 (GRCh37)
Canonical SPDI:: NC_000001.11:156249630:G:A,NC_000001.11:156249630:G:C
Gene:: SMG5 (Varview), PAQR6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156249631G>A, NC_000001.11:g.156249631G>C, NC_000001.10:g.156219422G>A, NC_000001.10:g.156219422G>C, NM_015327.3:c.*956C>T, NM_015327.3:c.*956C>G, NM_015327.2:c.*956C>T, NM_015327.2:c.*956C>G, NM_001323616.2:c.*956C>T, NM_001323616.2:c.*956C>G, NM_001323616.1:c.*956C>T, NM_001323616.1:c.*956C>G, NM_001323617.2:c.*956C>T, NM_001323617.2:c.*956C>G, NM_001323617.1:c.*956C>T, NM_001323617.1:c.*956C>G, NM_001323615.2:c.*956C>T, NM_001323615.2:c.*956C>G, NM_001323615.1:c.*956C>T, NM_001323615.1:c.*956C>G, NM_001323614.2:c.*956C>T, NM_001323614.2:c.*956C>G, NM_001323614.1:c.*956C>T, NM_001323614.1:c.*956C>G

Select item 148706855213.

rs1487068552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156243941 (GRCh38)
1:156213732 (GRCh37)
Canonical SPDI:: NC_000001.11:156243940:T:G
Gene:: PAQR6 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156243941T>G, NC_000001.10:g.156213732T>G, NG_047015.1:g.6782T>G, NM_024897.4:c.976A>C, NM_024897.3:c.976A>C, NM_198406.3:c.*188A>C, NM_198406.2:c.*188A>C, NM_001272107.2:c.*188A>C, NM_001272107.1:c.*188A>C, NM_001272105.2:c.*188A>C, NM_001272105.1:c.*188A>C, NM_001272104.2:c.*188A>C, NM_001272104.1:c.*188A>C, NM_001272106.2:c.772A>C, NM_001272106.1:c.772A>C, NM_001272109.2:c.556A>C, NM_001272109.1:c.556A>C, NR_073610.2:n.1272A>C, NR_073610.1:n.1333A>C, NM_001272110.2:c.556A>C, NM_001272110.1:c.556A>C, NM_001272111.2:c.556A>C, NM_001272111.1:c.556A>C, NM_001272112.2:c.556A>C, NM_001272112.1:c.556A>C, NM_001272108.2:c.*188A>C, NM_001272108.1:c.*188A>C, NM_001272113.2:c.556A>C, NM_001272113.1:c.556A>C

Select item 148691529514.

rs1486915295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:156249730 (GRCh38)
1:156219521 (GRCh37)
Canonical SPDI:: NC_000001.11:156249729:T:C,NC_000001.11:156249729:T:G
Gene:: SMG5 (Varview), PAQR6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/3 (GnomAD_exomes)
G=0.004913/9 (Korea1K)
HGVS:: NC_000001.11:g.156249730T>C, NC_000001.11:g.156249730T>G, NC_000001.10:g.156219521T>C, NC_000001.10:g.156219521T>G, NM_015327.3:c.*857A>G, NM_015327.3:c.*857A>C, NM_015327.2:c.*857A>G, NM_015327.2:c.*857A>C, NM_001323616.2:c.*857A>G, NM_001323616.2:c.*857A>C, NM_001323616.1:c.*857A>G, NM_001323616.1:c.*857A>C, NM_001323617.2:c.*857A>G, NM_001323617.2:c.*857A>C, NM_001323617.1:c.*857A>G, NM_001323617.1:c.*857A>C, NM_001323615.2:c.*857A>G, NM_001323615.2:c.*857A>C, NM_001323615.1:c.*857A>G, NM_001323615.1:c.*857A>C, NM_001323614.2:c.*857A>G, NM_001323614.2:c.*857A>C, NM_001323614.1:c.*857A>G, NM_001323614.1:c.*857A>C

Select item 148628270815.

rs1486282708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156249276 (GRCh38)
1:156219067 (GRCh37)
Canonical SPDI:: NC_000001.11:156249275:A:G
Gene:: SMG5 (Varview), PAQR6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.156249276A>G, NC_000001.10:g.156219067A>G, NM_015327.3:c.*1311T>C, NM_015327.2:c.*1311T>C, NM_001323616.2:c.*1311T>C, NM_001323616.1:c.*1311T>C, NM_001323617.2:c.*1311T>C, NM_001323617.1:c.*1311T>C, NM_001323615.2:c.*1311T>C, NM_001323615.1:c.*1311T>C, NM_001323614.2:c.*1311T>C, NM_001323614.1:c.*1311T>C

Select item 148597898816.

rs1485978988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156247532 (GRCh38)
1:156217323 (GRCh37)
Canonical SPDI:: NC_000001.11:156247531:T:G
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156247532T>G, NC_000001.10:g.156217323T>G, NM_001272105.2:c.-48A>C, NM_001272105.1:c.-48A>C

Select item 148583177617.

rs1485831776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156247356 (GRCh38)
1:156217147 (GRCh37)
Canonical SPDI:: NC_000001.11:156247355:C:T
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.156247356C>T, NC_000001.10:g.156217147C>T

Select item 148571164718.

rs1485711647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156243251 (GRCh38)
1:156213042 (GRCh37)
Canonical SPDI:: NC_000001.11:156243250:C:T
Gene:: BGLAP (Varview), PAQR6 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156243251C>T, NC_000001.10:g.156213042C>T, NG_047015.1:g.6092C>T, NM_199173.6:c.*89C>T, NM_199173.5:c.*89C>T, NM_199173.4:c.*89C>T, NM_001199662.1:c.*256C>T, NM_001199661.1:c.*168C>T, NM_001199663.1:c.*168C>T, NM_001199664.1:c.*256C>T, NM_000711.1:c.*89C>T

Select item 148518065019.

rs1485180650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156246693 (GRCh38)
1:156216484 (GRCh37)
Canonical SPDI:: NC_000001.11:156246692:G:A
Gene:: PAQR6 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156246693G>A, NC_000001.10:g.156216484G>A, NM_024897.4:c.-415C>T, NM_024897.3:c.-415C>T, NM_198406.3:c.39C>T, NM_198406.2:c.39C>T, NM_001272107.2:c.-415C>T, NM_001272107.1:c.-415C>T, NM_001272105.2:c.39C>T, NM_001272105.1:c.39C>T, NM_001272104.2:c.39C>T, NM_001272104.1:c.39C>T, NM_001272110.2:c.-502C>T, NM_001272110.1:c.-502C>T, NM_001272111.2:c.-502C>T, NM_001272111.1:c.-502C>T, NM_001272108.2:c.39C>T, NM_001272108.1:c.39C>T, NM_001272113.2:c.-199C>T, NM_001272113.1:c.-199C>T

Select item 148515856920.

rs1485158569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156248717 (GRCh38)
1:156218508 (GRCh37)
Canonical SPDI:: NC_000001.11:156248716:T:G
Gene:: PAQR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156248717T>G, NC_000001.10:g.156218508T>G

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