SNP Links for Gene (Select 5885) - SNP

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Select item 14915092361.

rs1491509236 has merged into rs74487590 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAC>-,GCACGCAC,GCACGCACGCAC,GCACGCATGCACGCACGCACGCACGCAC [Show Flanks]
Chromosome:: 8:116868930 (GRCh38)
8:117881169 (GRCh37)
Canonical SPDI:: NC_000008.11:116868917:GCACGCACGCACGCAC:GCACGCACGCAC,NC_000008.11:116868917:GCACGCACGCACGCAC:GCACGCACGCACGCACGCAC,NC_000008.11:116868917:GCACGCACGCACGCAC:GCACGCACGCACGCACGCACGCAC,NC_000008.11:116868917:GCACGCACGCACGCAC:GCACGCACGCACGCACGCATGCACGCACGCACGCACGCAC
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCACGCACGCACGCACGCATGCACGCACGCACGCACGCAC=0./0 (ALFA)
-=0.13055/2188 (TOMMO)
-=0.24481/1133 (1000Genomes)
-=0.29167/175 (NorthernSweden)
-=0.29659/296 (GoNL)
-=0.30524/1362 (Estonian)
HGVS:: NC_000008.11:g.116868918GCAC[3], NC_000008.11:g.116868918GCAC[5], NC_000008.11:g.116868918GCAC[6], NC_000008.11:g.116868918_116868933GCAC[4]GCATGCACGCACGCACGCACGCAC[1], NC_000008.10:g.117881157GCAC[3], NC_000008.10:g.117881157GCAC[5], NC_000008.10:g.117881157GCAC[6], NC_000008.10:g.117881157_117881172GCAC[4]GCATGCACGCACGCACGCACGCAC[1], NG_032862.1:g.10934GTGC[3], NG_032862.1:g.10934GTGC[5], NG_032862.1:g.10934GTGC[6], NG_032862.1:g.10934_10949GTGC[5]ATGCGTGCGTGCGTGCGTGC[1]

Select item 14914932812.

rs1491493281 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:116870368 (GRCh38)
8:117882607 (GRCh37)
Canonical SPDI:: NC_000008.11:116870367:TA:
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000171/24 (GnomAD)
-=0.0002/53 (TOPMED)
HGVS:: NC_000008.11:g.116870368_116870369del, NC_000008.10:g.117882607_117882608del, NG_032862.1:g.9498_9499del

Select item 14914091663.

rs1491409166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:116874891 (GRCh38)
8:117887130 (GRCh37)
Canonical SPDI:: NC_000008.11:116874889:CTC:C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002572/42 (ALFA)
-=0.000447/2 (Estonian)
-=0.000657/8 (ExAC)
-=0.003352/446 (GnomAD_exomes)
-=0.003968/543 (GnomAD)
-=0.006667/4 (NorthernSweden)
-=0.032276/59 (Korea1K)
-=0.0708/1169 (TOMMO)
HGVS:: NC_000008.11:g.116874891_116874892del, NC_000008.10:g.117887130_117887131del, NG_032862.1:g.4976_4977del, NR_033886.1:n.468_469del

Select item 14913298274.

rs1491329827 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GCCG [Show Flanks]
Chromosome:: 8:116874883 (GRCh38)
8:117887123 (GRCh37)
Canonical SPDI:: NC_000008.11:116874883::G,NC_000008.11:116874883::GCCG
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCCG=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.116874883_116874884insG, NC_000008.11:g.116874883_116874884insGCCG, NC_000008.10:g.117887122_117887123insG, NC_000008.10:g.117887122_117887123insGCCG, NG_032862.1:g.4983_4984insC, NG_032862.1:g.4983_4984insCGGC, NR_033886.1:n.460_461insG, NR_033886.1:n.460_461insGCCG

Select item 14912603735.

rs1491260373 has merged into rs200067374 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 8:116876595 (GRCh38)
8:117888834 (GRCh37)
Canonical SPDI:: NC_000008.11:116876587:AAAAAAAAA:AAAAAAA,NC_000008.11:116876587:AAAAAAAAA:AAAAAAAA,NC_000008.11:116876587:AAAAAAAAA:AAAAAAAAAA
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.01645/61 (TWINSUK)
-=0.02154/83 (ALSPAC)
-=0.02333/14 (NorthernSweden)
-=0.03817/171 (Estonian)
-=0.14192/260 (Korea1K)
HGVS:: NC_000008.11:g.116876595_116876596del, NC_000008.11:g.116876596del, NC_000008.11:g.116876596dup, NC_000008.10:g.117888834_117888835del, NC_000008.10:g.117888835del, NC_000008.10:g.117888835dup, NG_032862.1:g.3278_3279del, NG_032862.1:g.3279del, NG_032862.1:g.3279dup, NR_033886.1:n.1737_1738del, NR_033886.1:n.1738del, NR_033886.1:n.1738dup

Select item 14912482496.

rs1491248249 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 8:116868930 (GRCh38)
8:117881169 (GRCh37)
Canonical SPDI:: NC_000008.11:116868928:CGC:C
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000064/9 (GnomAD)
HGVS:: NC_000008.11:g.116868930_116868931del, NC_000008.10:g.117881169_117881170del, NG_032862.1:g.10937_10938del

Select item 14911770917.

rs1491177091 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:116876588 (GRCh38)
8:117888828 (GRCh37)
Canonical SPDI:: NC_000008.11:116876588::C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0002/53 (TOPMED)
C=0.000237/30 (GnomAD)
HGVS:: NC_000008.11:g.116876588_116876589insC, NC_000008.10:g.117888827_117888828insC, NG_032862.1:g.3278_3279insG, NR_033886.1:n.1730_1731insC

Select item 14910930568.

rs1491093056 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:116876587 (GRCh38)
8:117888826 (GRCh37)
Canonical SPDI:: NC_000008.11:116876586:CA:
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.116876587_116876588del, NC_000008.10:g.117888826_117888827del, NG_032862.1:g.3279_3280del, NR_033886.1:n.1729_1730del

Select item 14910718589.

rs1491071858 has merged into rs1554613061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 8:116872568 (GRCh38)
8:117884807 (GRCh37)
Canonical SPDI:: NC_000008.11:116872565:ATAT:AT,NC_000008.11:116872565:ATAT:ATATAT
Gene:: RAD21 (Varview), RAD21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00019/3 (ALFA)
-=0.00096/16 (TOMMO)
-=0.00109/2 (Korea1K)
HGVS:: NC_000008.11:g.116872566AT[1], NC_000008.11:g.116872566AT[3], NC_000008.10:g.117884805AT[1], NC_000008.10:g.117884805AT[3], NG_032862.1:g.7298AT[1], NG_032862.1:g.7298AT[3]

Select item 149105839110.

rs1491058391 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAT [Show Flanks]
Chromosome:: 8:116858943 (GRCh38)
8:117871183 (GRCh37)
Canonical SPDI:: NC_000008.11:116858943::CAT
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAT=0.01003/119 (ALFA)
HGVS:: NC_000008.11:g.116858943_116858944insCAT, NC_000008.10:g.117871182_117871183insCAT, NG_032862.1:g.20923_20924insATG

Select item 149105185211.

rs1491051852 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 8:116872563 (GRCh38)
8:117884803 (GRCh37)
Canonical SPDI:: NC_000008.11:116872563:A:ATA
Gene:: RAD21 (Varview), RAD21-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
AT=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.116872564_116872565insTA, NC_000008.10:g.117884803_117884804insTA, NG_032862.1:g.7303_7304insAT

Select item 149097648212.

rs1490976482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:116856852 (GRCh38)
8:117869091 (GRCh37)
Canonical SPDI:: NC_000008.11:116856851:T:G
Gene:: RAD21 (Varview)
Functional Consequence:: intron_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_000008.11:g.116856852T>G, NC_000008.10:g.117869091T>G, NG_032862.1:g.23015A>C

Select item 149094754813.

rs1490947548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:116854138 (GRCh38)
8:117866377 (GRCh37)
Canonical SPDI:: NC_000008.11:116854137:C:G
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000008.11:g.116854138C>G, NC_000008.10:g.117866377C>G, NG_032862.1:g.25729G>C

Select item 149078789914.

rs1490787899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:116864993 (GRCh38)
8:117877232 (GRCh37)
Canonical SPDI:: NC_000008.11:116864992:T:C
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.116864993T>C, NC_000008.10:g.117877232T>C, NG_032862.1:g.14874A>G

Select item 149057823915.

rs1490578239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:116850296 (GRCh38)
8:117862536 (GRCh37)
Canonical SPDI:: NC_000008.11:116850296:AA:AAA
Gene:: RAD21 (Varview), LOC112268030 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.116850298dup, NC_000008.10:g.117862537dup, NG_032862.1:g.29570dup, XR_002956724.2:n.2171dup

Select item 149056400916.

rs1490564009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:116849091 (GRCh38)
8:117861330 (GRCh37)
Canonical SPDI:: NC_000008.11:116849090:T:A,NC_000008.11:116849090:T:C
Gene:: RAD21 (Varview), LOC112268030 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.116849091T>A, NC_000008.11:g.116849091T>C, NC_000008.10:g.117861330T>A, NC_000008.10:g.117861330T>C, NG_032862.1:g.30776A>T, NG_032862.1:g.30776A>G, XR_002956724.2:n.964T>A, XR_002956724.2:n.964T>C

Select item 149040867817.

rs1490408678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116871660 (GRCh38)
8:117883899 (GRCh37)
Canonical SPDI:: NC_000008.11:116871659:G:A
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116871660G>A, NC_000008.10:g.117883899G>A, NG_032862.1:g.8207C>T

Select item 149024361718.

rs1490243617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:116872042 (GRCh38)
8:117884281 (GRCh37)
Canonical SPDI:: NC_000008.11:116872041:C:A
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.116872042C>A, NC_000008.10:g.117884281C>A, NG_032862.1:g.7825G>T

Select item 148976104319.

rs1489761043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:116864874 (GRCh38)
8:117877113 (GRCh37)
Canonical SPDI:: NC_000008.11:116864873:C:A
Gene:: RAD21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116864874C>A, NC_000008.10:g.117877113C>A, NG_032862.1:g.14993G>T

Select item 148965086320.

rs1489650863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116874967 (GRCh38)
8:117887206 (GRCh37)
Canonical SPDI:: NC_000008.11:116874966:C:T
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.116874967C>T, NC_000008.10:g.117887206C>T, NG_032862.1:g.4900G>A, NR_033886.1:n.544C>T

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