SNP Links for Gene (Select 25786) - SNP

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Select item 14915796051.

rs1491579605 has merged into rs538842818 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:19049838 (GRCh38)
22:19037351 (GRCh37)
Canonical SPDI:: NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4289/2148 (1000Genomes)
HGVS:: NC_000022.11:g.19049838_19049845del, NC_000022.11:g.19049840_19049845del, NC_000022.11:g.19049841_19049845del, NC_000022.11:g.19049842_19049845del, NC_000022.11:g.19049843_19049845del, NC_000022.11:g.19049844_19049845del, NC_000022.11:g.19049845del, NC_000022.11:g.19049845dup, NC_000022.11:g.19049844_19049845dup, NC_000022.11:g.19049843_19049845dup, NC_000022.11:g.19049842_19049845dup, NC_000022.11:g.19049841_19049845dup, NC_000022.10:g.19037351_19037358del, NC_000022.10:g.19037353_19037358del, NC_000022.10:g.19037354_19037358del, NC_000022.10:g.19037355_19037358del, NC_000022.10:g.19037356_19037358del, NC_000022.10:g.19037357_19037358del, NC_000022.10:g.19037358del, NC_000022.10:g.19037358dup, NC_000022.10:g.19037357_19037358dup, NC_000022.10:g.19037356_19037358dup, NC_000022.10:g.19037355_19037358dup, NC_000022.10:g.19037354_19037358dup, NG_021333.2:g.77621_77628del, NG_021333.2:g.77623_77628del, NG_021333.2:g.77624_77628del, NG_021333.2:g.77625_77628del, NG_021333.2:g.77626_77628del, NG_021333.2:g.77627_77628del, NG_021333.2:g.77628del, NG_021333.2:g.77628dup, NG_021333.2:g.77627_77628dup, NG_021333.2:g.77626_77628dup, NG_021333.2:g.77625_77628dup, NG_021333.2:g.77624_77628dup

Select item 14911102842.

rs1491110284 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:19049826 (GRCh38)
22:19037339 (GRCh37)
Canonical SPDI:: NC_000022.11:19049825:CA:
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/8 (ALFA)
-=0.00099/28 (TOMMO)
-=0.01618/60 (TWINSUK)
-=0.01946/75 (ALSPAC)
HGVS:: NC_000022.11:g.19049826_19049827del, NC_000022.10:g.19037339_19037340del, NG_021333.2:g.77628_77629del

Select item 14909705343.

rs1490970534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:19049441 (GRCh38)
22:19036954 (GRCh37)
Canonical SPDI:: NC_000022.11:19049440:G:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19049441G>C, NC_000022.10:g.19036954G>C, NG_021333.2:g.78014C>G

Select item 14899568714.

rs1489956871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19049710 (GRCh38)
22:19037223 (GRCh37)
Canonical SPDI:: NC_000022.11:19049709:C:T
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19049710C>T, NC_000022.10:g.19037223C>T, NG_021333.2:g.77745G>A

Select item 14899057195.

rs1489905719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:19047639 (GRCh38)
22:19035152 (GRCh37)
Canonical SPDI:: NC_000022.11:19047638:T:A
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19047639T>A, NC_000022.10:g.19035152T>A, NG_021333.2:g.79816A>T, NR_024157.1:n.737A>T

Select item 14897792636.

rs1489779263 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATAAGTACACC [Show Flanks]
Chromosome:: 22:19050006 (GRCh38)
22:19037520 (GRCh37)
Canonical SPDI:: NC_000022.11:19050006::CATAAGTACACC
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CATAAGTACACC=0./0 (ALFA)
CATAAGTACACC=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19050006_19050007insCATAAGTACACC, NC_000022.10:g.19037519_19037520insCATAAGTACACC, NG_021333.2:g.77448_77449insGGTGTACTTATG

Select item 14892185717.

rs1489218571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19046803 (GRCh38)
22:19034316 (GRCh37)
Canonical SPDI:: NC_000022.11:19046802:G:A
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000022.11:g.19046803G>A, NC_000022.10:g.19034316G>A, NG_021333.2:g.80652C>T, NR_024157.1:n.1573C>T

Select item 14888784948.

rs1488878494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19048387 (GRCh38)
22:19035900 (GRCh37)
Canonical SPDI:: NC_000022.11:19048386:C:G,NC_000022.11:19048386:C:T
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19048387C>G, NC_000022.11:g.19048387C>T, NC_000022.10:g.19035900C>G, NC_000022.10:g.19035900C>T, NG_021333.2:g.79068G>C, NG_021333.2:g.79068G>A

Select item 14882292449.

rs1488229244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19047414 (GRCh38)
22:19034927 (GRCh37)
Canonical SPDI:: NC_000022.11:19047413:C:T
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000022.11:g.19047414C>T, NC_000022.10:g.19034927C>T, NG_021333.2:g.80041G>A, NR_024157.1:n.962G>A

Select item 148806322110.

rs1488063221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19049687 (GRCh38)
22:19037200 (GRCh37)
Canonical SPDI:: NC_000022.11:19049686:C:T
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.19049687C>T, NC_000022.10:g.19037200C>T, NG_021333.2:g.77768G>A

Select item 148648571811.

rs1486485718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19047291 (GRCh38)
22:19034804 (GRCh37)
Canonical SPDI:: NC_000022.11:19047290:T:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.19047291T>C, NC_000022.10:g.19034804T>C, NG_021333.2:g.80164A>G, NR_024157.1:n.1085A>G

Select item 148293219612.

rs1482932196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19047028 (GRCh38)
22:19034541 (GRCh37)
Canonical SPDI:: NC_000022.11:19047027:T:C,NC_000022.11:19047027:T:G
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.008188/15 (Korea1K)
HGVS:: NC_000022.11:g.19047028T>C, NC_000022.11:g.19047028T>G, NC_000022.10:g.19034541T>C, NC_000022.10:g.19034541T>G, NG_021333.2:g.80427A>G, NG_021333.2:g.80427A>C, NR_024157.1:n.1348A>G, NR_024157.1:n.1348A>C

Select item 148122363613.

rs1481223636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19047948 (GRCh38)
22:19035461 (GRCh37)
Canonical SPDI:: NC_000022.11:19047947:T:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.19047948T>C, NC_000022.10:g.19035461T>C, NG_021333.2:g.79507A>G, NR_024157.1:n.428A>G

Select item 148064814614.

rs1480648146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19046327 (GRCh38)
22:19033840 (GRCh37)
Canonical SPDI:: NC_000022.11:19046326:T:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19046327T>C, NC_000022.10:g.19033840T>C, NG_021333.2:g.81128A>G, NR_024157.1:n.2049A>G

Select item 147991216615.

rs1479912166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19050358 (GRCh38)
22:19037871 (GRCh37)
Canonical SPDI:: NC_000022.11:19050357:T:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19050358T>C, NC_000022.10:g.19037871T>C, NG_021333.2:g.77097A>G

Select item 147986295816.

rs1479862958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:19049349 (GRCh38)
22:19036862 (GRCh37)
Canonical SPDI:: NC_000022.11:19049348:T:A,NC_000022.11:19049348:T:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19049349T>A, NC_000022.11:g.19049349T>C, NC_000022.10:g.19036862T>A, NC_000022.10:g.19036862T>C, NG_021333.2:g.78106A>T, NG_021333.2:g.78106A>G

Select item 147966233617.

rs1479662336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:19047408 (GRCh38)
22:19034922 (GRCh37)
Canonical SPDI:: NC_000022.11:19047408:A:AA
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000022.11:g.19047409dup, NC_000022.10:g.19034922dup, NG_021333.2:g.80046dup, NR_024157.1:n.967dup

Select item 147966040618.

rs1479660406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19046106 (GRCh38)
22:19033619 (GRCh37)
Canonical SPDI:: NC_000022.11:19046105:A:G
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.19046106A>G, NC_000022.10:g.19033619A>G, NG_021333.2:g.81349T>C

Select item 147938821519.

rs1479388215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19050040 (GRCh38)
22:19037553 (GRCh37)
Canonical SPDI:: NC_000022.11:19050039:A:G
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19050040A>G, NC_000022.10:g.19037553A>G, NG_021333.2:g.77415T>C

Select item 147920334920.

rs1479203349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:19047662 (GRCh38)
22:19035175 (GRCh37)
Canonical SPDI:: NC_000022.11:19047661:G:C
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19047662G>C, NC_000022.10:g.19035175G>C, NG_021333.2:g.79793C>G, NR_024157.1:n.714C>G

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