SNP Links for Gene (Select 25763) - SNP

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Links from Gene

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Select item 14903462911.

rs1490346291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37988874 (GRCh38)
X:37848127 (GRCh37)
Canonical SPDI:: NC_000023.11:37988873:A:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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.37988874A>G, NC_000023.10:g.37848127A>G, NG_021354.1:g.3058A>G

Select item 14892652632.

rs1489265263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37989599 (GRCh38)
X:37848852 (GRCh37)
Canonical SPDI:: NC_000023.11:37989598:G:A
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.001711/5 (KOREAN)
HGVS:: NC_000023.11:g.37989599G>A, NC_000023.10:g.37848852G>A, NG_021354.1:g.3783G>A

Select item 14889786793.

rs1488978679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37989021 (GRCh38)
X:37848274 (GRCh37)
Canonical SPDI:: NC_000023.11:37989020:T:C
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37989021T>C, NC_000023.10:g.37848274T>C, NG_021354.1:g.3205T>C

Select item 14883271304.

rs1488327130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:37990171 (GRCh38)
X:37849424 (GRCh37)
Canonical SPDI:: NC_000023.11:37990170:T:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.37990171T>G, NC_000023.10:g.37849424T>G, NG_021354.1:g.4355T>G

Select item 14869618815.

rs1486961881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37991317 (GRCh38)
X:37850570 (GRCh37)
Canonical SPDI:: NC_000023.11:37991316:A:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.37991317A>G, NC_000023.10:g.37850570A>G, NG_021354.1:g.5501A>G, NM_012274.1:c.*124A>G

Select item 14859818646.

rs1485981864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37990688 (GRCh38)
X:37849941 (GRCh37)
Canonical SPDI:: NC_000023.11:37990687:T:C
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.37990688T>C, NC_000023.10:g.37849941T>C, NG_021354.1:g.4872T>C

Select item 14848210787.

rs1484821078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37990841 (GRCh38)
X:37850094 (GRCh37)
Canonical SPDI:: NC_000023.11:37990840:T:C
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,missense_variant,initiator_codon_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37990841T>C, NC_000023.10:g.37850094T>C, NG_021354.1:g.5025T>C, NM_012274.2:c.2T>C, NM_012274.1:c.2T>C, NP_036406.1:p.Met1Thr

Select item 14847151508.

rs1484715150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37989928 (GRCh38)
X:37849181 (GRCh37)
Canonical SPDI:: NC_000023.11:37989927:G:A
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000324/6 (ALFA)
A=0.000624/3 (1000Genomes)
A=0.000846/87 (GnomAD)
HGVS:: NC_000023.11:g.37989928G>A, NC_000023.10:g.37849181G>A, NG_021354.1:g.4112G>A

Select item 14833818999.

rs1483381899 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:37991465 (GRCh38)
X:37850718 (GRCh37)
Canonical SPDI:: NC_000023.11:37991464:GG:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.37991466del, NC_000023.10:g.37850719del, NG_021354.1:g.5650del

Select item 148233780910.

rs1482337809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37990571 (GRCh38)
X:37849824 (GRCh37)
Canonical SPDI:: NC_000023.11:37990570:A:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.37990571A>G, NC_000023.10:g.37849824A>G, NG_021354.1:g.4755A>G

Select item 148037864411.

rs1480378644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:37989008 (GRCh38)
X:37848261 (GRCh37)
Canonical SPDI:: NC_000023.11:37989007:A:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.37989008A>T, NC_000023.10:g.37848261A>T, NG_021354.1:g.3192A>T

Select item 147776040712.

rs1477760407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37991091 (GRCh38)
X:37850344 (GRCh37)
Canonical SPDI:: NC_000023.11:37991090:T:C
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.37991091T>C, NC_000023.10:g.37850344T>C, NG_021354.1:g.5275T>C, NM_012274.2:c.252T>C, NM_012274.1:c.252T>C

Select item 147591383613.

rs1475913836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:37991405 (GRCh38)
X:37850658 (GRCh37)
Canonical SPDI:: NC_000023.11:37991404:C:G,NC_000023.11:37991404:C:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.37991405C>G, NC_000023.11:g.37991405C>T, NC_000023.10:g.37850658C>G, NC_000023.10:g.37850658C>T, NG_021354.1:g.5589C>G, NG_021354.1:g.5589C>T

Select item 147438298114.

rs1474382981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:37989532 (GRCh38)
X:37848785 (GRCh37)
Canonical SPDI:: NC_000023.11:37989531:G:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.37989532G>T, NC_000023.10:g.37848785G>T, NG_021354.1:g.3716G>T

Select item 147014807215.

rs1470148072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37991307 (GRCh38)
X:37850560 (GRCh37)
Canonical SPDI:: NC_000023.11:37991306:A:G
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.37991307A>G, NC_000023.10:g.37850560A>G, NG_021354.1:g.5491A>G, NM_012274.2:c.*114A>G, NM_012274.1:c.*114A>G

Select item 146978497816.

rs1469784978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37989941 (GRCh38)
X:37849194 (GRCh37)
Canonical SPDI:: NC_000023.11:37989940:C:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.37989941C>T, NC_000023.10:g.37849194C>T, NG_021354.1:g.4125C>T

Select item 146878827817.

rs1468788278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37989116 (GRCh38)
X:37848369 (GRCh37)
Canonical SPDI:: NC_000023.11:37989115:C:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.37989116C>T, NC_000023.10:g.37848369C>T, NG_021354.1:g.3300C>T

Select item 146698869618.

rs1466988696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:37989314 (GRCh38)
X:37848567 (GRCh37)
Canonical SPDI:: NC_000023.11:37989313:T:A
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.37989314T>A, NC_000023.10:g.37848567T>A, NG_021354.1:g.3498T>A

Select item 146680035319.

rs1466800353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37991585 (GRCh38)
X:37850838 (GRCh37)
Canonical SPDI:: NC_000023.11:37991584:G:A
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,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.37991585G>A, NC_000023.10:g.37850838G>A, NG_021354.1:g.5769G>A

Select item 146510674320.

rs1465106743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37990982 (GRCh38)
X:37850235 (GRCh37)
Canonical SPDI:: NC_000023.11:37990981:C:T
Gene:: H2AP (Varview), SYTL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.37990982C>T, NC_000023.10:g.37850235C>T, NG_021354.1:g.5166C>T, NM_012274.2:c.143C>T, NM_012274.1:c.143C>T, NP_036406.1:p.Ser48Phe