SNP Links for Gene (Select 29944) - SNP

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Select item 14900907861.

rs1490090786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:153060239 (GRCh38)
X:152228600 (GRCh37)
Canonical SPDI:: NC_000023.11:153060239:G:GG
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000023.11:g.153060240dup, NW_003871103.3:g.494223dup, NG_013256.2:g.8834dup, NM_013364.6:c.*1793dup, NM_013364.5:c.*1793dup, NM_013364.4:c.*1796dup, NM_001282535.2:c.*1696dup, NM_001282535.1:c.*1696dup, NC_000023.10:g.152228600dup, XR_938508.4:n.2948dup, XR_938508.3:n.2946dup, XR_938508.2:n.3075dup, XR_938508.1:n.2936dup

Select item 14899779712.

rs1489977971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153059457 (GRCh38)
X:152227817 (GRCh37)
Canonical SPDI:: NC_000023.11:153059456:A:G
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000106/11 (GnomAD)
G=0.000178/47 (TOPMED)
HGVS:: NC_000023.11:g.153059457A>G, NW_003871103.3:g.493440A>G, NG_013256.2:g.8051A>G, NM_013364.6:c.*1010A>G, NM_013364.5:c.*1010A>G, NM_013364.4:c.*1013A>G, NM_001282535.2:c.*913A>G, NM_001282535.1:c.*913A>G, NC_000023.10:g.152227817A>G, XR_938508.4:n.2165A>G, XR_938508.3:n.2163A>G, XR_938508.2:n.2292A>G, XR_938508.1:n.2153A>G

Select item 14896581473.

rs1489658147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153059327 (GRCh38)
X:152227687 (GRCh37)
Canonical SPDI:: NC_000023.11:153059326:C:A
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153059327C>A, NW_003871103.3:g.493310C>A, NG_013256.2:g.7921C>A, NM_013364.6:c.*880C>A, NM_013364.5:c.*880C>A, NM_013364.4:c.*883C>A, NM_001282535.2:c.*783C>A, NM_001282535.1:c.*783C>A, NC_000023.10:g.152227687C>A, XR_938508.4:n.2035C>A, XR_938508.3:n.2033C>A, XR_938508.2:n.2162C>A, XR_938508.1:n.2023C>A

Select item 14896191224.

rs1489619122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153055403 (GRCh38)
X:152223760 (GRCh37)
Canonical SPDI:: NC_000023.11:153055402:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.153055403G>A, NW_003871103.3:g.489386G>A, NG_013256.2:g.3997G>A, NC_000023.10:g.152223760G>A

Select item 14862115305.

rs1486211530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:153056813 (GRCh38)
X:152225170 (GRCh37)
Canonical SPDI:: NC_000023.11:153056812:T:G
Gene:: PNMA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00379/45 (ALFA)
G=0.03057/73 (KOREAN)
HGVS:: NC_000023.11:g.153056813T>G, NW_003871103.3:g.490796T>G, NG_013256.2:g.5407T>G, NC_000023.10:g.152225170T>G

Select item 14862019126.

rs1486201912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153055785 (GRCh38)
X:152224142 (GRCh37)
Canonical SPDI:: NC_000023.11:153055784:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153055785G>A, NW_003871103.3:g.489768G>A, NG_013256.2:g.4379G>A, NC_000023.10:g.152224142G>A

Select item 14860755857.

rs1486075585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153055175 (GRCh38)
X:152223532 (GRCh37)
Canonical SPDI:: NC_000023.11:153055174:C:T
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153055175C>T, NW_003871103.3:g.489158C>T, NG_013256.2:g.3769C>T, NC_000023.10:g.152223532C>T

Select item 14856312588.

rs1485631258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153060471 (GRCh38)
X:152228831 (GRCh37)
Canonical SPDI:: NC_000023.11:153060470:C:T
Gene:: PNMA3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.153060471C>T, NW_003871103.3:g.494454C>T, NG_013256.2:g.9065C>T, NC_000023.10:g.152228831C>T

Select item 14852230649.

rs1485223064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153056390 (GRCh38)
X:152224747 (GRCh37)
Canonical SPDI:: NC_000023.11:153056389:C:T
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153056390C>T, NW_003871103.3:g.490373C>T, NG_013256.2:g.4984C>T, NC_000023.10:g.152224747C>T

Select item 148521240910.

rs1485212409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:153054946 (GRCh38)
X:152223303 (GRCh37)
Canonical SPDI:: NC_000023.11:153054945:T:G
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153054946T>G, NW_003871103.3:g.488929T>G, NG_013256.2:g.3540T>G, NC_000023.10:g.152223303T>G

Select item 148417078211.

rs1484170782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:153059873 (GRCh38)
X:152228233 (GRCh37)
Canonical SPDI:: NC_000023.11:153059872:G:A,NC_000023.11:153059872:G:T
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000135/2 (TOMMO)
HGVS:: NC_000023.11:g.153059873G>A, NC_000023.11:g.153059873G>T, NW_003871103.3:g.493856G>A, NW_003871103.3:g.493856G>T, NG_013256.2:g.8467G>A, NG_013256.2:g.8467G>T, NM_013364.6:c.*1426G>A, NM_013364.6:c.*1426G>T, NM_013364.5:c.*1426G>A, NM_013364.5:c.*1426G>T, NM_013364.4:c.*1429G>A, NM_013364.4:c.*1429G>T, NM_001282535.2:c.*1329G>A, NM_001282535.2:c.*1329G>T, NM_001282535.1:c.*1329G>A, NM_001282535.1:c.*1329G>T, NC_000023.10:g.152228233G>A, NC_000023.10:g.152228233G>T, XR_938508.4:n.2581G>A, XR_938508.4:n.2581G>T, XR_938508.3:n.2579G>A, XR_938508.3:n.2579G>T, XR_938508.2:n.2708G>A, XR_938508.2:n.2708G>T, XR_938508.1:n.2569G>A, XR_938508.1:n.2569G>T

Select item 148398152612.

rs1483981526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153059576 (GRCh38)
X:152227936 (GRCh37)
Canonical SPDI:: NC_000023.11:153059575:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153059576G>A, NW_003871103.3:g.493559G>A, NG_013256.2:g.8170G>A, NM_013364.6:c.*1129G>A, NM_013364.5:c.*1129G>A, NM_013364.4:c.*1132G>A, NM_001282535.2:c.*1032G>A, NM_001282535.1:c.*1032G>A, NC_000023.10:g.152227936G>A, XR_938508.4:n.2284G>A, XR_938508.3:n.2282G>A, XR_938508.2:n.2411G>A, XR_938508.1:n.2272G>A

Select item 148394575313.

rs1483945753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:153058818 (GRCh38)
X:152227175 (GRCh37)
Canonical SPDI:: NC_000023.11:153058817:C:A,NC_000023.11:153058817:C:T
Gene:: PNMA3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153058818C>A, NC_000023.11:g.153058818C>T, NW_003871103.3:g.492801C>A, NW_003871103.3:g.492801C>T, NG_013256.2:g.7412C>A, NG_013256.2:g.7412C>T, NM_013364.6:c.*371C>A, NM_013364.6:c.*371C>T, NM_013364.5:c.*371C>A, NM_013364.5:c.*371C>T, NM_013364.4:c.*371C>A, NM_013364.4:c.*371C>T, NM_001282535.2:c.*274C>A, NM_001282535.2:c.*274C>T, NM_001282535.1:c.*274C>A, NM_001282535.1:c.*274C>T, NC_000023.10:g.152227175C>A, NC_000023.10:g.152227175C>T

Select item 148392969514.

rs1483929695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153058132 (GRCh38)
X:152226489 (GRCh37)
Canonical SPDI:: NC_000023.11:153058131:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153058132G>A, NW_003871103.3:g.492115G>A, NG_013256.2:g.6726G>A, NM_013364.6:c.1077G>A, NM_013364.5:c.1077G>A, NM_013364.4:c.1077G>A, NM_001282535.2:c.1077G>A, NM_001282535.1:c.1077G>A, NC_000023.10:g.152226489G>A, XR_938508.4:n.1352G>A, XR_938508.3:n.1350G>A, XR_938508.2:n.1479G>A, XR_938508.1:n.1340G>A

Select item 148210039315.

rs1482100393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153058834 (GRCh38)
X:152227191 (GRCh37)
Canonical SPDI:: NC_000023.11:153058833:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153058834G>A, NW_003871103.3:g.492817G>A, NG_013256.2:g.7428G>A, NM_013364.6:c.*387G>A, NM_013364.5:c.*387G>A, NM_013364.4:c.*387G>A, NM_001282535.2:c.*290G>A, NM_001282535.1:c.*290G>A, NC_000023.10:g.152227191G>A

Select item 148202161016.

rs1482021610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153058263 (GRCh38)
X:152226620 (GRCh37)
Canonical SPDI:: NC_000023.11:153058262:G:C
Gene:: PNMA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153058263G>C, NW_003871103.3:g.492246G>C, NG_013256.2:g.6857G>C, NM_013364.6:c.1208G>C, NM_013364.5:c.1208G>C, NM_013364.4:c.1208G>C, NM_001282535.2:c.1208G>C, NM_001282535.1:c.1208G>C, NC_000023.10:g.152226620G>C, XR_938508.4:n.1483G>C, XR_938508.3:n.1481G>C, XR_938508.2:n.1610G>C, XR_938508.1:n.1471G>C, NP_037496.4:p.Arg403Pro, NP_001269464.1:p.Arg403Pro

Select item 148071205217.

rs1480712052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:153060294 (GRCh38)
X:152228654 (GRCh37)
Canonical SPDI:: NC_000023.11:153060293:A:G,NC_000023.11:153060293:A:T
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000945/12 (TOMMO)
T=0.002055/6 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.153060294A>G, NC_000023.11:g.153060294A>T, NW_003871103.3:g.494277A>G, NW_003871103.3:g.494277A>T, NG_013256.2:g.8888A>G, NG_013256.2:g.8888A>T, NM_013364.6:c.*1847A>G, NM_013364.6:c.*1847A>T, NM_013364.5:c.*1847A>G, NM_013364.5:c.*1847A>T, NM_013364.4:c.*1850A>G, NM_013364.4:c.*1850A>T, NM_001282535.2:c.*1750A>G, NM_001282535.2:c.*1750A>T, NM_001282535.1:c.*1750A>G, NM_001282535.1:c.*1750A>T, NC_000023.10:g.152228654A>G, NC_000023.10:g.152228654A>T, XR_938508.4:n.3002A>G, XR_938508.4:n.3002A>T, XR_938508.3:n.3000A>G, XR_938508.3:n.3000A>T, XR_938508.2:n.3129A>G, XR_938508.2:n.3129A>T, XR_938508.1:n.2990A>G, XR_938508.1:n.2990A>T

Select item 148061974718.

rs1480619747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153055632 (GRCh38)
X:152223989 (GRCh37)
Canonical SPDI:: NC_000023.11:153055631:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.153055632G>A, NW_003871103.3:g.489615G>A, NG_013256.2:g.4226G>A, NC_000023.10:g.152223989G>A

Select item 148050731919.

rs1480507319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153056676 (GRCh38)
X:152225033 (GRCh37)
Canonical SPDI:: NC_000023.11:153056675:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153056676G>A, NW_003871103.3:g.490659G>A, NG_013256.2:g.5270G>A, NC_000023.10:g.152225033G>A

Select item 147986696220.

rs1479866962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153060290 (GRCh38)
X:152228650 (GRCh37)
Canonical SPDI:: NC_000023.11:153060289:G:A
Gene:: PNMA3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153060290G>A, NW_003871103.3:g.494273G>A, NG_013256.2:g.8884G>A, NM_013364.6:c.*1843G>A, NM_013364.5:c.*1843G>A, NM_013364.4:c.*1846G>A, NM_001282535.2:c.*1746G>A, NM_001282535.1:c.*1746G>A, NC_000023.10:g.152228650G>A, XR_938508.4:n.2998G>A, XR_938508.3:n.2996G>A, XR_938508.2:n.3125G>A, XR_938508.1:n.2986G>A

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