SNP Links for Gene (Select 339123) - SNP

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Select item 14899496021.

rs1489949602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:682288 (GRCh38)
16:732288 (GRCh37)
Canonical SPDI:: NC_000016.10:682287:C:G,NC_000016.10:682287:C:T
Gene:: STUB1 (Varview), JMJD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.28261/39 (SGDP_PRJ)
HGVS:: NC_000016.10:g.682288C>G, NC_000016.10:g.682288C>T, NC_000016.9:g.732288C>G, NC_000016.9:g.732288C>T, NG_034141.1:g.7178C>G, NG_034141.1:g.7178C>T, NM_001005920.4:c.*506G>C, NM_001005920.4:c.*506G>A, NM_001005920.3:c.*506G>C, NM_001005920.3:c.*506G>A, NM_001005920.2:c.*506G>C, NM_001005920.2:c.*506G>A, NR_136651.3:n.1404G>C, NR_136651.3:n.1404G>A, NR_136651.2:n.1404G>C, NR_136651.2:n.1404G>A, NR_136651.1:n.1516G>C, NR_136651.1:n.1516G>A, NR_136650.3:n.1399G>C, NR_136650.3:n.1399G>A, NR_136650.2:n.1399G>C, NR_136650.2:n.1399G>A, NR_136650.1:n.1511G>C, NR_136650.1:n.1511G>A, NR_136652.3:n.1314G>C, NR_136652.3:n.1314G>A, NR_136652.2:n.1314G>C, NR_136652.2:n.1314G>A, NR_136652.1:n.1426G>C, NR_136652.1:n.1426G>A, NM_001323918.3:c.*540G>C, NM_001323918.3:c.*540G>A, NM_001323918.2:c.*540G>C, NM_001323918.2:c.*540G>A, NM_001323918.1:c.*540G>C, NM_001323918.1:c.*540G>A, NM_001323920.3:c.*506G>C, NM_001323920.3:c.*506G>A, NM_001323920.2:c.*506G>C, NM_001323920.2:c.*506G>A, NM_001323920.1:c.*506G>C, NM_001323920.1:c.*506G>A, NM_001323922.3:c.*540G>C, NM_001323922.3:c.*540G>A, NM_001323922.2:c.*540G>C, NM_001323922.2:c.*540G>A, NM_001323922.1:c.*540G>C, NM_001323922.1:c.*540G>A, NM_001323919.3:c.*506G>C, NM_001323919.3:c.*506G>A, NM_001323919.2:c.*506G>C, NM_001323919.2:c.*506G>A, NM_001323919.1:c.*506G>C, NM_001323919.1:c.*506G>A

Select item 14898754972.

rs1489875497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:684480 (GRCh38)
16:734480 (GRCh37)
Canonical SPDI:: NC_000016.10:684479:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.684480G>A, NC_000016.9:g.734480G>A, NG_034141.1:g.9370G>A

Select item 14897178623.

rs1489717862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:685357 (GRCh38)
16:735357 (GRCh37)
Canonical SPDI:: NC_000016.10:685356:A:G
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.685357A>G, NC_000016.9:g.735357A>G, NM_032259.4:c.1919T>C, NM_032259.3:c.1919T>C, NM_032259.2:c.1919T>C, NM_001303027.1:c.1919T>C, XM_047434767.1:c.1688T>C, NP_115635.1:p.Met640Thr, XP_047290723.1:p.Met563Thr

Select item 14897000924.

rs1489700092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:684831 (GRCh38)
16:734831 (GRCh37)
Canonical SPDI:: NC_000016.10:684830:C:T
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.684831C>T, NC_000016.9:g.734831C>T, NM_032259.4:c.2276G>A, NM_032259.3:c.2276G>A, NM_032259.2:c.2276G>A, NM_001303027.1:c.2276G>A, XM_047434767.1:c.2045G>A, NP_115635.1:p.Gly759Asp, XP_047290723.1:p.Gly682Asp

Select item 14896769815.

rs1489676981 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:684550 (GRCh38)
16:734550 (GRCh37)
Canonical SPDI:: NC_000016.10:684549:CCCCC:CCCC
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.684554del, NC_000016.9:g.734554del, NG_034141.1:g.9444del

Select item 14892721986.

rs1489272198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:683400 (GRCh38)
16:733400 (GRCh37)
Canonical SPDI:: NC_000016.10:683399:C:A,NC_000016.10:683399:C:T
Gene:: JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.683400C>A, NC_000016.10:g.683400C>T, NC_000016.9:g.733400C>A, NC_000016.9:g.733400C>T, NG_034141.1:g.8290C>A, NG_034141.1:g.8290C>T, NM_001005920.4:c.433G>T, NM_001005920.4:c.433G>A, NM_001005920.3:c.433G>T, NM_001005920.3:c.433G>A, NM_001005920.2:c.496G>T, NM_001005920.2:c.496G>A, NR_136651.3:n.536G>T, NR_136651.3:n.536G>A, NR_136651.2:n.536G>T, NR_136651.2:n.536G>A, NR_136651.1:n.648G>T, NR_136651.1:n.648G>A, NR_136650.3:n.536G>T, NR_136650.3:n.536G>A, NR_136650.2:n.536G>T, NR_136650.2:n.536G>A, NR_136650.1:n.648G>T, NR_136650.1:n.648G>A, NR_136652.3:n.446G>T, NR_136652.3:n.446G>A, NR_136652.2:n.446G>T, NR_136652.2:n.446G>A, NR_136652.1:n.558G>T, NR_136652.1:n.558G>A, NM_001323918.3:c.433G>T, NM_001323918.3:c.433G>A, NM_001323918.2:c.433G>T, NM_001323918.2:c.433G>A, NM_001323918.1:c.496G>T, NM_001323918.1:c.496G>A, NM_001323920.3:c.343G>T, NM_001323920.3:c.343G>A, NM_001323920.2:c.343G>T, NM_001323920.2:c.343G>A, NM_001323920.1:c.406G>T, NM_001323920.1:c.406G>A, NM_001323922.3:c.343G>T, NM_001323922.3:c.343G>A, NM_001323922.2:c.343G>T, NM_001323922.2:c.343G>A, NM_001323922.1:c.406G>T, NM_001323922.1:c.406G>A, NM_001323919.3:c.433G>T, NM_001323919.3:c.433G>A, NM_001323919.2:c.433G>T, NM_001323919.2:c.433G>A, NM_001323919.1:c.496G>T, NM_001323919.1:c.496G>A, NP_001005920.3:p.Ala145Ser, NP_001005920.3:p.Ala145Thr, NP_001310847.2:p.Ala145Ser, NP_001310847.2:p.Ala145Thr, NP_001310849.2:p.Ala115Ser, NP_001310849.2:p.Ala115Thr, NP_001310851.2:p.Ala115Ser, NP_001310851.2:p.Ala115Thr, NP_001310848.2:p.Ala145Ser, NP_001310848.2:p.Ala145Thr

Select item 14892512557.

rs1489251255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:685063 (GRCh38)
16:735063 (GRCh37)
Canonical SPDI:: NC_000016.10:685062:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.685063G>A, NC_000016.9:g.735063G>A, NM_032259.4:c.2133C>T, NM_032259.3:c.2133C>T, NM_032259.2:c.2133C>T, NM_001303027.1:c.2133C>T, XM_047434767.1:c.1902C>T

Select item 14888768408.

rs1488876840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:685280 (GRCh38)
16:735280 (GRCh37)
Canonical SPDI:: NC_000016.10:685279:T:G
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.685280T>G, NC_000016.9:g.735280T>G, NM_032259.4:c.1996A>C, NM_032259.3:c.1996A>C, NM_032259.2:c.1996A>C, NM_001303027.1:c.1996A>C, XM_047434767.1:c.1765A>C, NP_115635.1:p.Lys666Gln, XP_047290723.1:p.Lys589Gln

Select item 14887010039.

rs1488701003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:684880 (GRCh38)
16:734880 (GRCh37)
Canonical SPDI:: NC_000016.10:684879:A:C
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000016.10:g.684880A>C, NC_000016.9:g.734880A>C, NM_032259.4:c.2227T>G, NM_032259.3:c.2227T>G, NM_032259.2:c.2227T>G, NM_001303027.1:c.2227T>G, XM_047434767.1:c.1996T>G, NP_115635.1:p.Cys743Gly, XP_047290723.1:p.Cys666Gly

Select item 148869599810.

rs1488695998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:682613 (GRCh38)
16:732613 (GRCh37)
Canonical SPDI:: NC_000016.10:682612:G:A
Gene:: STUB1 (Varview), JMJD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.682613G>A, NC_000016.9:g.732613G>A, NG_034141.1:g.7503G>A, NM_005861.4:c.*124G>A, NM_005861.3:c.*124G>A, NM_005861.2:c.*124G>A, NM_001293197.2:c.*124G>A, NM_001293197.1:c.*124G>A, NM_001005920.4:c.*181C>T, NM_001005920.3:c.*181C>T, NM_001005920.2:c.*181C>T, NR_136651.3:n.1079C>T, NR_136651.2:n.1079C>T, NR_136651.1:n.1191C>T, NR_136650.3:n.1074C>T, NR_136650.2:n.1074C>T, NR_136650.1:n.1186C>T, NR_136652.3:n.989C>T, NR_136652.2:n.989C>T, NR_136652.1:n.1101C>T, NM_001323918.3:c.*215C>T, NM_001323918.2:c.*215C>T, NM_001323918.1:c.*215C>T, NM_001323920.3:c.*181C>T, NM_001323920.2:c.*181C>T, NM_001323920.1:c.*181C>T, NM_001323922.3:c.*215C>T, NM_001323922.2:c.*215C>T, NM_001323922.1:c.*215C>T, NM_001323919.3:c.*181C>T, NM_001323919.2:c.*181C>T, NM_001323919.1:c.*181C>T

Select item 148835358211.

rs1488353582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:684146 (GRCh38)
16:734146 (GRCh37)
Canonical SPDI:: NC_000016.10:684145:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.684146G>A, NC_000016.9:g.734146G>A, NG_034141.1:g.9036G>A, NM_001005920.4:c.96C>T, NM_001005920.3:c.96C>T, NM_001005920.2:c.159C>T, NR_136651.3:n.111C>T, NR_136651.2:n.111C>T, NR_136651.1:n.223C>T, NR_136650.3:n.111C>T, NR_136650.2:n.111C>T, NR_136650.1:n.223C>T, NM_001323918.3:c.96C>T, NM_001323918.2:c.96C>T, NM_001323918.1:c.159C>T, NM_001323919.3:c.96C>T, NM_001323919.2:c.96C>T, NM_001323919.1:c.159C>T

Select item 148832594212.

rs1488325942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:684827 (GRCh38)
16:734827 (GRCh37)
Canonical SPDI:: NC_000016.10:684826:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.684827G>A, NC_000016.9:g.734827G>A, NM_032259.4:c.2280C>T, NM_032259.3:c.2280C>T, NM_032259.2:c.2280C>T, NM_001303027.1:c.2280C>T, XM_047434767.1:c.2049C>T

Select item 148813860613.

rs1488138606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:681733 (GRCh38)
16:731734 (GRCh37)
Canonical SPDI:: NC_000016.10:681733:GGGG:GGGGG
Gene:: STUB1 (Varview), JMJD8 (Varview), STUB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.681737dup, NC_000016.9:g.731737dup, NG_034141.1:g.6627dup, NM_001005920.4:c.*1060dup, NM_001005920.3:c.*1060dup, NM_001005920.2:c.*1060dup, NR_136651.3:n.1958dup, NR_136651.2:n.1958dup, NR_136651.1:n.2070dup, NR_136650.3:n.1953dup, NR_136650.2:n.1953dup, NR_136650.1:n.2065dup, NR_136652.3:n.1868dup, NR_136652.2:n.1868dup, NR_136652.1:n.1980dup, NM_001323918.3:c.*1094dup, NM_001323918.2:c.*1094dup, NM_001323918.1:c.*1094dup, NM_001323920.3:c.*1060dup, NM_001323920.2:c.*1060dup, NM_001323920.1:c.*1060dup, NM_001323922.3:c.*1094dup, NM_001323922.2:c.*1094dup, NM_001323922.1:c.*1094dup, NM_001323919.3:c.*1060dup, NM_001323919.2:c.*1060dup, NM_001323919.1:c.*1060dup

Select item 148773757314.

rs1487737573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:686088 (GRCh38)
16:736088 (GRCh37)
Canonical SPDI:: NC_000016.10:686087:A:G
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.686088A>G, NC_000016.9:g.736088A>G, NM_032259.4:c.1431T>C, NM_032259.3:c.1431T>C, NM_032259.2:c.1431T>C, NM_001303027.1:c.1431T>C, XM_047434767.1:c.1200T>C

Select item 148745404815.

rs1487454048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:681826 (GRCh38)
16:731826 (GRCh37)
Canonical SPDI:: NC_000016.10:681825:T:C,NC_000016.10:681825:T:G
Gene:: STUB1 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.002729/5 (Korea1K)
HGVS:: NC_000016.10:g.681826T>C, NC_000016.10:g.681826T>G, NC_000016.9:g.731826T>C, NC_000016.9:g.731826T>G, NG_034141.1:g.6716T>C, NG_034141.1:g.6716T>G, NM_005861.4:c.558T>C, NM_005861.4:c.558T>G, NM_005861.3:c.558T>C, NM_005861.3:c.558T>G, NM_005861.2:c.558T>C, NM_005861.2:c.558T>G, NM_001293197.2:c.342T>C, NM_001293197.2:c.342T>G, NM_001293197.1:c.342T>C, NM_001293197.1:c.342T>G, NM_001005920.4:c.*968A>G, NM_001005920.4:c.*968A>C, NM_001005920.3:c.*968A>G, NM_001005920.3:c.*968A>C, NM_001005920.2:c.*968A>G, NM_001005920.2:c.*968A>C, NR_136651.3:n.1866A>G, NR_136651.3:n.1866A>C, NR_136651.2:n.1866A>G, NR_136651.2:n.1866A>C, NR_136651.1:n.1978A>G, NR_136651.1:n.1978A>C, NR_136650.3:n.1861A>G, NR_136650.3:n.1861A>C, NR_136650.2:n.1861A>G, NR_136650.2:n.1861A>C, NR_136650.1:n.1973A>G, NR_136650.1:n.1973A>C, NR_136652.3:n.1776A>G, NR_136652.3:n.1776A>C, NR_136652.2:n.1776A>G, NR_136652.2:n.1776A>C, NR_136652.1:n.1888A>G, NR_136652.1:n.1888A>C, NM_001323918.3:c.*1002A>G, NM_001323918.3:c.*1002A>C, NM_001323918.2:c.*1002A>G, NM_001323918.2:c.*1002A>C, NM_001323918.1:c.*1002A>G, NM_001323918.1:c.*1002A>C, NM_001323920.3:c.*968A>G, NM_001323920.3:c.*968A>C, NM_001323920.2:c.*968A>G, NM_001323920.2:c.*968A>C, NM_001323920.1:c.*968A>G, NM_001323920.1:c.*968A>C, NM_001323922.3:c.*1002A>G, NM_001323922.3:c.*1002A>C, NM_001323922.2:c.*1002A>G, NM_001323922.2:c.*1002A>C, NM_001323922.1:c.*1002A>G, NM_001323922.1:c.*1002A>C, NM_001323919.3:c.*968A>G, NM_001323919.3:c.*968A>C, NM_001323919.2:c.*968A>G, NM_001323919.2:c.*968A>C, NM_001323919.1:c.*968A>G, NM_001323919.1:c.*968A>C

Select item 148727087416.

rs1487270874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:685015 (GRCh38)
16:735015 (GRCh37)
Canonical SPDI:: NC_000016.10:685014:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.685015G>A, NC_000016.9:g.735015G>A, NM_032259.4:c.2181C>T, NM_032259.3:c.2181C>T, NM_032259.2:c.2181C>T, NM_001303027.1:c.2181C>T, XM_047434767.1:c.1950C>T

Select item 148600164117.

rs1486001641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:683738 (GRCh38)
16:733738 (GRCh37)
Canonical SPDI:: NC_000016.10:683737:A:G,NC_000016.10:683737:A:T
Gene:: JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.683738A>G, NC_000016.10:g.683738A>T, NC_000016.9:g.733738A>G, NC_000016.9:g.733738A>T, NG_034141.1:g.8628A>G, NG_034141.1:g.8628A>T, NM_001005920.4:c.269T>C, NM_001005920.4:c.269T>A, NM_001005920.3:c.269T>C, NM_001005920.3:c.269T>A, NM_001005920.2:c.332T>C, NM_001005920.2:c.332T>A, NR_136651.3:n.284T>C, NR_136651.3:n.284T>A, NR_136651.2:n.284T>C, NR_136651.2:n.284T>A, NR_136651.1:n.396T>C, NR_136651.1:n.396T>A, NR_136650.3:n.284T>C, NR_136650.3:n.284T>A, NR_136650.2:n.284T>C, NR_136650.2:n.284T>A, NR_136650.1:n.396T>C, NR_136650.1:n.396T>A, NR_136652.3:n.194T>C, NR_136652.3:n.194T>A, NR_136652.2:n.194T>C, NR_136652.2:n.194T>A, NR_136652.1:n.306T>C, NR_136652.1:n.306T>A, NM_001323918.3:c.269T>C, NM_001323918.3:c.269T>A, NM_001323918.2:c.269T>C, NM_001323918.2:c.269T>A, NM_001323918.1:c.332T>C, NM_001323918.1:c.332T>A, NM_001323920.3:c.179T>C, NM_001323920.3:c.179T>A, NM_001323920.2:c.179T>C, NM_001323920.2:c.179T>A, NM_001323920.1:c.242T>C, NM_001323920.1:c.242T>A, NM_001323922.3:c.179T>C, NM_001323922.3:c.179T>A, NM_001323922.2:c.179T>C, NM_001323922.2:c.179T>A, NM_001323922.1:c.242T>C, NM_001323922.1:c.242T>A, NM_001323919.3:c.269T>C, NM_001323919.3:c.269T>A, NM_001323919.2:c.269T>C, NM_001323919.2:c.269T>A, NM_001323919.1:c.332T>C, NM_001323919.1:c.332T>A, NP_001005920.3:p.Phe90Ser, NP_001005920.3:p.Phe90Tyr, NP_001310847.2:p.Phe90Ser, NP_001310847.2:p.Phe90Tyr, NP_001310849.2:p.Phe60Ser, NP_001310849.2:p.Phe60Tyr, NP_001310851.2:p.Phe60Ser, NP_001310851.2:p.Phe60Tyr, NP_001310848.2:p.Phe90Ser, NP_001310848.2:p.Phe90Tyr

Select item 148561852518.

rs1485618525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:684200 (GRCh38)
16:734200 (GRCh37)
Canonical SPDI:: NC_000016.10:684199:G:A
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.684200G>A, NC_000016.9:g.734200G>A, NG_034141.1:g.9090G>A

Select item 148528845519.

rs1485288455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:685965 (GRCh38)
16:735965 (GRCh37)
Canonical SPDI:: NC_000016.10:685964:C:G
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.685965C>G, NC_000016.9:g.735965C>G, NM_032259.4:c.1477G>C, NM_032259.3:c.1477G>C, NM_032259.2:c.1477G>C, NM_001303027.1:c.1477G>C, XM_047434767.1:c.1246G>C, NP_115635.1:p.Gly493Arg, XP_047290723.1:p.Gly416Arg

Select item 148528531820.

rs1485285318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:684763 (GRCh38)
16:734763 (GRCh37)
Canonical SPDI:: NC_000016.10:684762:C:T
Gene:: WDR24 (Varview), JMJD8 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.684763C>T, NC_000016.9:g.734763C>T, NG_034141.1:g.9653C>T, NM_032259.4:c.2344G>A, NM_032259.3:c.2344G>A, NM_032259.2:c.2344G>A, NM_001303027.1:c.2344G>A, XM_047434767.1:c.2113G>A, NP_115635.1:p.Gly782Ser, XP_047290723.1:p.Gly705Ser

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