SNP Links for Gene (Select 57469) - SNP

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Items: 1 to 20 of 2027

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Select item 14906373871.

rs1490637387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46495928 (GRCh38)
19:46999185 (GRCh37)
Canonical SPDI:: NC_000019.10:46495927:C:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.46495928C>T, NC_000019.9:g.46999185C>T, NM_001013673.1:c.*684C>T

Select item 14904008122.

rs1490400812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46497303 (GRCh38)
19:47000560 (GRCh37)
Canonical SPDI:: NC_000019.10:46497302:G:A
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.46497303G>A, NC_000019.9:g.47000560G>A

Select item 14900526043.

rs1490052604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:46497757 (GRCh38)
19:47001014 (GRCh37)
Canonical SPDI:: NC_000019.10:46497756:G:A,NC_000019.10:46497756:G:C
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.46497757G>A, NC_000019.10:g.46497757G>C, NC_000019.9:g.47001014G>A, NC_000019.9:g.47001014G>C

Select item 14900476274.

rs1490047627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGC [Show Flanks]
Chromosome:: 19:46493101 (GRCh38)
19:46996359 (GRCh37)
Canonical SPDI:: NC_000019.10:46493101:GAGC:GAGCGAGC
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGCGAGC=0./0 (ALFA)
GAGC=0.000019/5 (TOPMED)
GAGC=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.46493102_46493105dup, NC_000019.9:g.46996359_46996362dup, NM_020709.3:c.*453_*456dup, NM_020709.2:c.*453_*456dup, NM_020709.1:c.*453_*456dup

Select item 14900421125.

rs1490042112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46490940 (GRCh38)
19:46994197 (GRCh37)
Canonical SPDI:: NC_000019.10:46490939:G:T
Gene:: PNMA8B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46490940G>T, NC_000019.9:g.46994197G>T

Select item 14898800896.

rs1489880089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46491945 (GRCh38)
19:46995202 (GRCh37)
Canonical SPDI:: NC_000019.10:46491944:C:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.46491945C>T, NC_000019.9:g.46995202C>T, NM_020709.3:c.*1613G>A, NM_020709.2:c.*1613G>A, NM_020709.1:c.*1613G>A

Select item 14893036957.

rs1489303695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46492971 (GRCh38)
19:46996228 (GRCh37)
Canonical SPDI:: NC_000019.10:46492970:C:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_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.46492971C>T, NC_000019.9:g.46996228C>T, NM_020709.3:c.*587G>A, NM_020709.2:c.*587G>A, NM_020709.1:c.*587G>A

Select item 14890116108.

rs1489011610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46497091 (GRCh38)
19:47000348 (GRCh37)
Canonical SPDI:: NC_000019.10:46497090:G:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46497091G>T, NC_000019.9:g.47000348G>T

Select item 14890016169.

rs1489001616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46495951 (GRCh38)
19:46999208 (GRCh37)
Canonical SPDI:: NC_000019.10:46495950:A:G
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.000686/2 (KOREAN)
HGVS:: NC_000019.10:g.46495951A>G, NC_000019.9:g.46999208A>G, NM_001013673.1:c.*707A>G

Select item 148899102110.

rs1488991021 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:46495959 (GRCh38)
19:46999216 (GRCh37)
Canonical SPDI:: NC_000019.10:46495958:CT:
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46495959_46495960del, NC_000019.9:g.46999216_46999217del, NM_001013673.1:c.*715_*716del

Select item 148894743911.

rs1488947439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46491501 (GRCh38)
19:46994758 (GRCh37)
Canonical SPDI:: NC_000019.10:46491500:A:G
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46491501A>G, NC_000019.9:g.46994758A>G, NM_020709.3:c.*2057T>C, NM_020709.2:c.*2057T>C, NM_020709.1:c.*2057T>C

Select item 148889762312.

rs1488897623 has merged into rs969748365 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCAC>-,GGCACGGCAC [Show Flanks]
Chromosome:: 19:46492359 (GRCh38)
19:46995616 (GRCh37)
Canonical SPDI:: NC_000019.10:46492346:ACGGCACGGCACGGCAC:ACGGCACGGCAC,NC_000019.10:46492346:ACGGCACGGCACGGCAC:ACGGCACGGCACGGCACGGCAC
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGGCACGGCACGGCACGGCAC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
ACGGC=0.000064/9 (GnomAD)
HGVS:: NC_000019.10:g.46492349GGCAC[2], NC_000019.10:g.46492349GGCAC[4], NC_000019.9:g.46995606GGCAC[2], NC_000019.9:g.46995606GGCAC[4], NM_020709.3:c.*1197GCCGT[2], NM_020709.3:c.*1197GCCGT[4], NM_020709.2:c.*1197GCCGT[2], NM_020709.2:c.*1197GCCGT[4], NM_020709.1:c.*1197GCCGT[2], NM_020709.1:c.*1197GCCGT[4]

Select item 148871881613.

rs1488718816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:46495685 (GRCh38)
19:46998942 (GRCh37)
Canonical SPDI:: NC_000019.10:46495684:G:A,NC_000019.10:46495684:G:C
Gene:: PNMA8B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46495685G>A, NC_000019.10:g.46495685G>C, NC_000019.9:g.46998942G>A, NC_000019.9:g.46998942G>C, NM_020709.3:c.-220C>T, NM_020709.3:c.-220C>G, NM_020709.2:c.-220C>T, NM_020709.2:c.-220C>G, NM_020709.1:c.-220C>T, NM_020709.1:c.-220C>G, NM_001013673.1:c.*441G>A, NM_001013673.1:c.*441G>C

Select item 148850136614.

rs1488501366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:46492920 (GRCh38)
19:46996177 (GRCh37)
Canonical SPDI:: NC_000019.10:46492919:T:C,NC_000019.10:46492919:T:G
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.07929/1295 (ALFA)
C=0.01734/291 (TOMMO)
C=0.12371/360 (KOREAN)
HGVS:: NC_000019.10:g.46492920T>C, NC_000019.10:g.46492920T>G, NC_000019.9:g.46996177T>C, NC_000019.9:g.46996177T>G, NM_020709.3:c.*638A>G, NM_020709.3:c.*638A>C, NM_020709.2:c.*638A>G, NM_020709.2:c.*638A>C, NM_020709.1:c.*638A>G, NM_020709.1:c.*638A>C

Select item 148838265215.

rs1488382652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46497328 (GRCh38)
19:47000585 (GRCh37)
Canonical SPDI:: NC_000019.10:46497327:C:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46497328C>T, NC_000019.9:g.47000585C>T

Select item 148803223016.

rs1488032230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:46495953 (GRCh38)
19:46999210 (GRCh37)
Canonical SPDI:: NC_000019.10:46495952:C:G,NC_000019.10:46495952:C:T
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46495953C>G, NC_000019.10:g.46495953C>T, NC_000019.9:g.46999210C>G, NC_000019.9:g.46999210C>T, NM_001013673.1:c.*709C>G, NM_001013673.1:c.*709C>T

Select item 148801735617.

rs1488017356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:46496391 (GRCh38)
19:46999648 (GRCh37)
Canonical SPDI:: NC_000019.10:46496390:G:C
Gene:: PNMA8B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.46496391G>C, NC_000019.9:g.46999648G>C, NM_001013673.1:c.*1147G>C

Select item 148758886218.

rs1487588862 has merged into rs376209904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCAGGTGGAATTCAGGA [Show Flanks]
Chromosome:: 19:46496222 (GRCh38)
19:46999480 (GRCh37)
Canonical SPDI:: NC_000019.10:46496222:GCCAGGTGGAATTCAGGA:GCCAGGTGGAATTCAGGAAGCCAGGTGGAATTCAGGA
Gene:: PNMA8B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCAGGTGGAATTCAGGAAGCCAGGTGGAATTCAGGA=0.000506/6 (ALFA)
GCCAGGTGGAATTCAGGAA=0.000364/51 (GnomAD)
HGVS:: NC_000019.10:g.46496240_46496241insAGCCAGGTGGAATTCAGGA, NC_000019.9:g.46999497_46999498insAGCCAGGTGGAATTCAGGA, NM_001013673.1:c.*996_*997insAGCCAGGTGGAATTCAGGA

Select item 148710190419.

rs1487101904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46493193 (GRCh38)
19:46996450 (GRCh37)
Canonical SPDI:: NC_000019.10:46493192:A:G
Gene:: PNMA8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.46493193A>G, NC_000019.9:g.46996450A>G, NM_020709.3:c.*365T>C, NM_020709.2:c.*365T>C, NM_020709.1:c.*365T>C

Select item 148709072920.

rs1487090729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:46494017 (GRCh38)
19:46997274 (GRCh37)
Canonical SPDI:: NC_000019.10:46494016:T:G
Gene:: PNMA8B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.46494017T>G, NC_000019.9:g.46997274T>G, NM_020709.3:c.1449A>C, NM_020709.2:c.1449A>C, NM_020709.1:c.1449A>C, NP_065760.1:p.Lys483Asn

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