SNP Links for Gene (Select 140893) - SNP

Links from Gene

Items: 1 to 20 of 5821

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Select item 14915870541.

rs1491587054 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 20:62421737 (GRCh38)
20:60996793 (GRCh37)
Canonical SPDI:: NC_000020.11:62421728:TGTGTGTGTG:TGTGTGTG,NC_000020.11:62421728:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
-=0.000413/51 (GnomAD)
HGVS:: NC_000020.11:g.62421729TG[4], NC_000020.11:g.62421729TG[6], NC_000020.10:g.60996785TG[4], NC_000020.10:g.60996785TG[6]

Select item 14915748482.

rs1491574848 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:62417556 (GRCh38)
20:60992612 (GRCh37)
Canonical SPDI:: NC_000020.11:62417555:AA:
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0102/121 (ALFA)
HGVS:: NC_000020.11:g.62417556_62417557del, NC_000020.10:g.60992612_60992613del

Select item 14912669843.

rs1491266984 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGCC [Show Flanks]
Chromosome:: 20:62421729 (GRCh38)
20:60996786 (GRCh37)
Canonical SPDI:: NC_000020.11:62421729:GTGTGTGTGCC:GTGTGTGTGCCGTGTGTGTGCC
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGCCGTGTGTGTGCC=0.000061/1 (ALFA)
GTGTGTGTGCC=0.000015/2 (GnomAD)
HGVS:: NC_000020.11:g.62421730_62421740dup, NC_000020.10:g.60996786_60996796dup

Select item 14909570884.

rs1490957088 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:62411909 (GRCh38)
20:60986965 (GRCh37)
Canonical SPDI:: NC_000020.11:62411908:CCCC:CCC
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62411912del, NC_000020.10:g.60986968del

Select item 14908498355.

rs1490849835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62428651 (GRCh38)
20:61003707 (GRCh37)
Canonical SPDI:: NC_000020.11:62428650:G:A
Gene:: RBBP8NL (Varview), LOC105372710 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62428651G>A, NC_000020.10:g.61003707G>A, XR_007067700.1:n.1808G>A

Select item 14906945646.

rs1490694564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:62424110 (GRCh38)
20:60999166 (GRCh37)
Canonical SPDI:: NC_000020.11:62424109:G:T
Gene:: RBBP8NL (Varview)
Functional Consequence:: 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_000020.11:g.62424110G>T, NC_000020.10:g.60999166G>T

Select item 14906916267.

rs1490691626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62416782 (GRCh38)
20:60991838 (GRCh37)
Canonical SPDI:: NC_000020.11:62416781:G:A,NC_000020.11:62416781:G:T
Gene:: RBBP8NL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.62416782G>A, NC_000020.11:g.62416782G>T, NC_000020.10:g.60991838G>A, NC_000020.10:g.60991838G>T, NM_080833.3:c.291C>T, NM_080833.3:c.291C>A, NM_080833.2:c.291C>T, NM_080833.2:c.291C>A, NP_543023.2:p.Asn97Lys

Select item 14905288568.

rs1490528856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62417268 (GRCh38)
20:60992324 (GRCh37)
Canonical SPDI:: NC_000020.11:62417267:T:C
Gene:: RBBP8NL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.62417268T>C, NC_000020.10:g.60992324T>C, NM_080833.3:c.156A>G, NM_080833.2:c.156A>G

Select item 14904661249.

rs1490466124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62429131 (GRCh38)
20:61004187 (GRCh37)
Canonical SPDI:: NC_000020.11:62429130:G:A
Gene:: RBBP8NL (Varview), LOC105372710 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62429131G>A, NC_000020.10:g.61004187G>A, XR_936969.4:n.201G>A, XR_936969.3:n.187G>A, XR_936969.2:n.204G>A, XR_936969.1:n.233G>A, XR_936973.3:n.187G>A, XR_936973.2:n.187G>A, XR_936973.1:n.239G>A, XR_936971.3:n.304G>A, XR_936971.2:n.304G>A, XR_936971.1:n.308G>A, XR_936970.3:n.187G>A, XR_936970.2:n.187G>A, XR_936970.1:n.234G>A, XR_936968.3:n.187G>A, XR_936968.2:n.187G>A, XR_936968.1:n.234G>A, XR_001754697.2:n.191G>A, XR_001754697.1:n.191G>A, XR_936975.2:n.187G>A, XR_936975.1:n.232G>A, XR_007067700.1:n.2288G>A, XR_007067701.1:n.461G>A

Select item 149040214310.

rs1490402143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62418251 (GRCh38)
20:60993307 (GRCh37)
Canonical SPDI:: NC_000020.11:62418250:G:A
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.62418251G>A, NC_000020.10:g.60993307G>A

Select item 149035634111.

rs1490356341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:62417717 (GRCh38)
20:60992774 (GRCh37)
Canonical SPDI:: NC_000020.11:62417717:CCCCCCC:CCCCCCCC
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCCC=0.00025/3 (ALFA)
HGVS:: NC_000020.11:g.62417724dup, NC_000020.10:g.60992780dup

Select item 149017160612.

rs1490171606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACG [Show Flanks]
Chromosome:: 20:62423051 (GRCh38)
20:60998108 (GRCh37)
Canonical SPDI:: NC_000020.11:62423051:G:GACG
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACG=0.000071/1 (ALFA)
GAC=0.000007/1 (GnomAD)
GAC=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62423052_62423053insACG, NC_000020.10:g.60998108_60998109insACG

Select item 149013828413.

rs1490138284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:62411547 (GRCh38)
20:60986603 (GRCh37)
Canonical SPDI:: NC_000020.11:62411546:G:T
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.62411547G>T, NC_000020.10:g.60986603G>T

Select item 148968624714.

rs1489686247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62423516 (GRCh38)
20:60998572 (GRCh37)
Canonical SPDI:: NC_000020.11:62423515:G:A
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62423516G>A, NC_000020.10:g.60998572G>A

Select item 148962450015.

rs1489624500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62419634 (GRCh38)
20:60994690 (GRCh37)
Canonical SPDI:: NC_000020.11:62419633:A:G
Gene:: RBBP8NL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62419634A>G, NC_000020.10:g.60994690A>G, NM_080833.3:c.14T>C, NM_080833.2:c.14T>C, NP_543023.2:p.Met5Thr

Select item 148952614216.

rs1489526142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:62416612 (GRCh38)
20:60991668 (GRCh37)
Canonical SPDI:: NC_000020.11:62416611:T:A
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.62416612T>A, NC_000020.10:g.60991668T>A

Select item 148929655517.

rs1489296555 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 20:62417443 (GRCh38)
20:60992500 (GRCh37)
Canonical SPDI:: NC_000020.11:62417443::GG
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GG=0.002243/314 (GnomAD)
GG=0.004216/27 (1000Genomes)
HGVS:: NC_000020.11:g.62417443_62417444insGG, NC_000020.10:g.60992499_60992500insGG

Select item 148908311918.

rs1489083119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62426804 (GRCh38)
20:61001860 (GRCh37)
Canonical SPDI:: NC_000020.11:62426803:C:A,NC_000020.11:62426803:C:T
Gene:: RBBP8NL (Varview), LOC105372710 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.62426804C>A, NC_000020.11:g.62426804C>T, NC_000020.10:g.61001860C>A, NC_000020.10:g.61001860C>T, NG_081040.1:g.152C>A, NG_081040.1:g.152C>T

Select item 148906149019.

rs1489061490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62427585 (GRCh38)
20:61002641 (GRCh37)
Canonical SPDI:: NC_000020.11:62427584:C:T
Gene:: RBBP8NL (Varview), LOC105372710 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.62427585C>T, NC_000020.10:g.61002641C>T, XR_007067700.1:n.742C>T

Select item 148883851320.

rs1488838513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62423752 (GRCh38)
20:60998808 (GRCh37)
Canonical SPDI:: NC_000020.11:62423751:C:T
Gene:: RBBP8NL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.62423752C>T, NC_000020.10:g.60998808C>T

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