SNP Links for Gene (Select 79621) - SNP

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Select item 14914878361.

rs1491487836 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:50930646 (GRCh38)
13:51504782 (GRCh37)
Canonical SPDI:: NC_000013.11:50930644:AGA:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50930646_50930647del, NC_000013.10:g.51504782_51504783del, NG_009055.1:g.25891_25892del

Select item 14914878012.

rs1491487801 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGT [Show Flanks]
Chromosome:: 13:50930645 (GRCh38)
13:51504782 (GRCh37)
Canonical SPDI:: NC_000013.11:50930645::TGT
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TGT=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50930645_50930646insTGT, NC_000013.10:g.51504781_51504782insTGT, NG_009055.1:g.25890_25891insTGT

Select item 14914439793.

rs1491443979 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 13:50931986 (GRCh38)
13:51506122 (GRCh37)
Canonical SPDI:: NC_000013.11:50931984:CCC:C
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50931986_50931987del, NC_000013.10:g.51506122_51506123del, NG_009055.1:g.27231_27232del

Select item 14913915544.

rs1491391554 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 13:50939355 (GRCh38)
13:51513492 (GRCh37)
Canonical SPDI:: NC_000013.11:50939355::AAAAAAAAA,NC_000013.11:50939355::AAAAAAAAAA
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0.00073/3 (Estonian)
HGVS:: NC_000013.11:g.50939355_50939356insAAAAAAAAA, NC_000013.11:g.50939355_50939356insAAAAAAAAAA, NC_000013.10:g.51513491_51513492insAAAAAAAAA, NC_000013.10:g.51513491_51513492insAAAAAAAAAA, NG_009055.1:g.34600_34601insAAAAAAAAA, NG_009055.1:g.34600_34601insAAAAAAAAAA

Select item 14913231215.

rs1491323121 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ACACACA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912835176.

rs1491283517 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 13:50939355 (GRCh38)
13:51513491 (GRCh37)
Canonical SPDI:: NC_000013.11:50939354:TC:
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00012/4 (GnomAD)
HGVS:: NC_000013.11:g.50939355_50939356del, NC_000013.10:g.51513491_51513492del, NG_009055.1:g.34600_34601del

Select item 14910446607.

rs1491044660 has merged into rs61114845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 13:50908863 (GRCh38)
13:51482999 (GRCh37)
Canonical SPDI:: NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:50908850:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: RNASEH2B (Varview), RNASEH2B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2837/1421 (1000Genomes)
HGVS:: NC_000013.11:g.50908863_50908864del, NC_000013.11:g.50908864del, NC_000013.11:g.50908864dup, NC_000013.11:g.50908863_50908864dup, NC_000013.11:g.50908862_50908864dup, NC_000013.11:g.50908861_50908864dup, NC_000013.11:g.50908860_50908864dup, NC_000013.11:g.50908858_50908864dup, NC_000013.10:g.51482999_51483000del, NC_000013.10:g.51483000del, NC_000013.10:g.51483000dup, NC_000013.10:g.51482999_51483000dup, NC_000013.10:g.51482998_51483000dup, NC_000013.10:g.51482997_51483000dup, NC_000013.10:g.51482996_51483000dup, NC_000013.10:g.51482994_51483000dup, NG_009055.1:g.4108_4109del, NG_009055.1:g.4109del, NG_009055.1:g.4109dup, NG_009055.1:g.4108_4109dup, NG_009055.1:g.4107_4109dup, NG_009055.1:g.4106_4109dup, NG_009055.1:g.4105_4109dup, NG_009055.1:g.4103_4109dup

Select item 14910194868.

rs1491019486 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:50924589 (GRCh38)
13:51498725 (GRCh37)
Canonical SPDI:: NC_000013.11:50924588:CA:
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50924589_50924590del, NC_000013.10:g.51498725_51498726del, NG_009055.1:g.19834_19835del

Select item 14909614179.

rs1490961417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50936224 (GRCh38)
13:51510360 (GRCh37)
Canonical SPDI:: NC_000013.11:50936223:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.50936224A>G, NC_000013.10:g.51510360A>G, NG_009055.1:g.31469A>G

Select item 149085554710.

rs1490855547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:50917204 (GRCh38)
13:51491340 (GRCh37)
Canonical SPDI:: NC_000013.11:50917203:G:A,NC_000013.11:50917203:G:C
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.50917204G>A, NC_000013.11:g.50917204G>C, NC_000013.10:g.51491340G>A, NC_000013.10:g.51491340G>C, NG_009055.1:g.12449G>A, NG_009055.1:g.12449G>C

Select item 149071529511.

rs1490715295 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:50970662 (GRCh38)
13:51544798 (GRCh37)
Canonical SPDI:: NC_000013.11:50970657:TGTGTG:TGTG
Gene:: RNASEH2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50970658TG[2], NC_000013.10:g.51544794TG[2], NG_009055.1:g.65903TG[2]

Select item 149070358412.

rs1490703584 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:50966194 (GRCh38)
13:51540330 (GRCh37)
Canonical SPDI:: NC_000013.11:50966188:ACACACA:ACACA
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0.000285/4 (ALFA)
-=0.000214/30 (GnomAD)
-=0.000276/73 (TOPMED)
HGVS:: NC_000013.11:g.50966190CA[2], NC_000013.10:g.51540326CA[2], NG_009055.1:g.61435CA[2], XM_047430617.1:c.*4712CA[2]

Select item 149061236813.

rs1490612368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:50968786 (GRCh38)
13:51542922 (GRCh37)
Canonical SPDI:: NC_000013.11:50968785:C:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.50968786C>A, NC_000013.10:g.51542922C>A, NG_009055.1:g.64031C>A, XM_047430617.1:c.*7308C>A

Select item 149052062214.

rs1490520622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50961539 (GRCh38)
13:51535675 (GRCh37)
Canonical SPDI:: NC_000013.11:50961538:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000013.11:g.50961539C>T, NC_000013.10:g.51535675C>T, NG_009055.1:g.56784C>T, XM_047430617.1:c.*61C>T

Select item 149049981215.

rs1490499812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGCACAGTG>- [Show Flanks]
Chromosome:: 13:50935491 (GRCh38)
13:51509627 (GRCh37)
Canonical SPDI:: NC_000013.11:50935485:CAGTGACCGCACAGTG:CAGTG
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CAGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50935491_50935501del, NC_000013.10:g.51509627_51509637del, NG_009055.1:g.30736_30746del

Select item 149042650316.

rs1490426503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50930775 (GRCh38)
13:51504911 (GRCh37)
Canonical SPDI:: NC_000013.11:50930774:G:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.50930775G>A, NC_000013.10:g.51504911G>A, NG_009055.1:g.26020G>A

Select item 149034952317.

rs1490349523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50909602 (GRCh38)
13:51483738 (GRCh37)
Canonical SPDI:: NC_000013.11:50909601:G:A
Gene:: RNASEH2B (Varview), RNASEH2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.50909602G>A, NC_000013.10:g.51483738G>A, NG_009055.1:g.4847G>A

Select item 149029076118.

rs1490290761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:50926761 (GRCh38)
13:51500897 (GRCh37)
Canonical SPDI:: NC_000013.11:50926760:T:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000013.11:g.50926761T>G, NC_000013.10:g.51500897T>G, NG_009055.1:g.22006T>G

Select item 149025852419.

rs1490258524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:50924978 (GRCh38)
13:51499114 (GRCh37)
Canonical SPDI:: NC_000013.11:50924977:C:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000013.11:g.50924978C>A, NC_000013.10:g.51499114C>A, NG_009055.1:g.20223C>A

Select item 149025202020.

rs1490252020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50953586 (GRCh38)
13:51527722 (GRCh37)
Canonical SPDI:: NC_000013.11:50953585:G:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.50953586G>A, NC_000013.10:g.51527722G>A, NG_009055.1:g.48831G>A, XM_011535230.3:c.*3516G>A, XM_011535231.3:c.*3477G>A

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