SNP Links for Gene (Select 92255) - SNP

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Select item 14914513011.

rs1491451301 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATT,GT,GTT,GTTT,GTTTT,GTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:36106509 (GRCh38)
5:36106612 (GRCh37)
Canonical SPDI:: NC_000005.10:36106509::ATT,NC_000005.10:36106509::GT,NC_000005.10:36106509::GTT,NC_000005.10:36106509::GTTT,NC_000005.10:36106509::GTTTT,NC_000005.10:36106509::GTTTTTTTTTTTTTTTTTTTTT
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
HGVS:: NC_000005.10:g.36106509_36106510insATT, NC_000005.10:g.36106509_36106510insGT, NC_000005.10:g.36106509_36106510insGTT, NC_000005.10:g.36106509_36106510insGTTT, NC_000005.10:g.36106509_36106510insGTTTT, NC_000005.10:g.36106509_36106510insGTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.36106611_36106612insATT, NC_000005.9:g.36106611_36106612insGT, NC_000005.9:g.36106611_36106612insGTT, NC_000005.9:g.36106611_36106612insGTTT, NC_000005.9:g.36106611_36106612insGTTTT, NC_000005.9:g.36106611_36106612insGTTTTTTTTTTTTTTTTTTTTT

Select item 14914488932.

rs1491448893 has merged into rs141044130 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:36122974 (GRCh38)
5:36123076 (GRCh37)
Canonical SPDI:: NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:36122963:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.31579/12 (GENOME_DK)
HGVS:: NC_000005.10:g.36122974_36122977del, NC_000005.10:g.36122975_36122977del, NC_000005.10:g.36122976_36122977del, NC_000005.10:g.36122977del, NC_000005.10:g.36122977dup, NC_000005.10:g.36122976_36122977dup, NC_000005.10:g.36122975_36122977dup, NC_000005.9:g.36123076_36123079del, NC_000005.9:g.36123077_36123079del, NC_000005.9:g.36123078_36123079del, NC_000005.9:g.36123079del, NC_000005.9:g.36123079dup, NC_000005.9:g.36123078_36123079dup, NC_000005.9:g.36123077_36123079dup

Select item 14914414233.

rs1491441423 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:36106508 (GRCh38)
5:36106610 (GRCh37)
Canonical SPDI:: NC_000005.10:36106507:CG:
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000107/3 (TOMMO)
-=0.000165/19 (GnomAD)
HGVS:: NC_000005.10:g.36106508_36106509del, NC_000005.9:g.36106610_36106611del

Select item 14914216674.

rs1491421667 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:36146540 (GRCh38)
5:36146642 (GRCh37)
Canonical SPDI:: NC_000005.10:36146539:TA:
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36146540_36146541del, NC_000005.9:g.36146642_36146643del

Select item 14913771185.

rs1491377118 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:36106509 (GRCh38)
5:36106611 (GRCh37)
Canonical SPDI:: NC_000005.10:36106508:GT:
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.36106509_36106510del, NC_000005.9:g.36106611_36106612del

Select item 14911400866.

rs1491140086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGTG [Show Flanks]
Chromosome:: 5:36146941 (GRCh38)
5:36147044 (GRCh37)
Canonical SPDI:: NC_000005.10:36146941:G:GAGTGTG
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAGTGTG=0./0 (ALFA)
GAGTGT=0.000023/3 (GnomAD)
HGVS:: NC_000005.10:g.36146942_36146943insAGTGTG, NC_000005.9:g.36147044_36147045insAGTGTG

Select item 14907439257.

rs1490743925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36140211 (GRCh38)
5:36140313 (GRCh37)
Canonical SPDI:: NC_000005.10:36140210:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.36140211C>T, NC_000005.9:g.36140313C>T

Select item 14906828768.

rs1490682876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:36136325 (GRCh38)
5:36136427 (GRCh37)
Canonical SPDI:: NC_000005.10:36136324:A:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36136325A>C, NC_000005.9:g.36136427A>C, XM_011514162.3:c.731T>G, XM_011514162.2:c.731T>G, XM_011514162.1:c.731T>G, NM_001007527.2:c.731T>G, NM_001007527.1:c.731T>G, XM_047417877.1:c.-105T>G, XP_011512464.1:p.Leu244Trp, NP_001007528.1:p.Leu244Trp

Select item 14906502279.

rs1490650227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36146466 (GRCh38)
5:36146568 (GRCh37)
Canonical SPDI:: NC_000005.10:36146465:G:A
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_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_000005.10:g.36146466G>A, NC_000005.9:g.36146568G>A

Select item 149064174610.

rs1490641746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36129299 (GRCh38)
5:36129401 (GRCh37)
Canonical SPDI:: NC_000005.10:36129298:T:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36129299T>C, NC_000005.9:g.36129401T>C

Select item 149061274411.

rs1490612744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:36128109 (GRCh38)
5:36128211 (GRCh37)
Canonical SPDI:: NC_000005.10:36128108:T:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000005.10:g.36128109T>G, NC_000005.9:g.36128211T>G

Select item 149055679612.

rs1490556796 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:36126895 (GRCh38)
5:36126998 (GRCh37)
Canonical SPDI:: NC_000005.10:36126895:AA:AAA
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36126897dup, NC_000005.9:g.36126999dup

Select item 149051106713.

rs1490511067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:36118835 (GRCh38)
5:36118937 (GRCh37)
Canonical SPDI:: NC_000005.10:36118834:A:C,NC_000005.10:36118834:A:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36118835A>C, NC_000005.10:g.36118835A>T, NC_000005.9:g.36118937A>C, NC_000005.9:g.36118937A>T

Select item 149028653914.

rs1490286539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36127036 (GRCh38)
5:36127138 (GRCh37)
Canonical SPDI:: NC_000005.10:36127035:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36127036A>G, NC_000005.9:g.36127138A>G

Select item 149023079515.

rs1490230795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:36125623 (GRCh38)
5:36125725 (GRCh37)
Canonical SPDI:: NC_000005.10:36125622:A:C,NC_000005.10:36125622:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.36125623A>C, NC_000005.10:g.36125623A>G, NC_000005.9:g.36125725A>C, NC_000005.9:g.36125725A>G

Select item 149012936516.

rs1490129365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:36153223 (GRCh38)
5:36153325 (GRCh37)
Canonical SPDI:: NC_000005.10:36153222:T:G
Gene:: SKP2 (Varview), LMBRD2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00008/1 (GnomAD)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000005.10:g.36153223T>G, NC_000005.9:g.36153325T>G, NG_029643.2:g.6181T>G

Select item 148986716817.

rs1489867168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36135646 (GRCh38)
5:36135748 (GRCh37)
Canonical SPDI:: NC_000005.10:36135645:T:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.36135646T>C, NC_000005.9:g.36135748T>C

Select item 148978910218.

rs1489789102 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:36101840 (GRCh38)
5:36101942 (GRCh37)
Canonical SPDI:: NC_000005.10:36101839:AAAAAA:AAAAA
Gene:: LMBRD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36101845del, NC_000005.9:g.36101947del, XM_011514162.3:c.*2206del, XM_011514162.2:c.*2206del, XM_011514162.1:c.*2206del, NM_001007527.2:c.*2206del, XM_047417877.1:c.*2206del

Select item 148974080619.

rs1489740806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:36120217 (GRCh38)
5:36120319 (GRCh37)
Canonical SPDI:: NC_000005.10:36120216:G:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.36120217G>T, NC_000005.9:g.36120319G>T

Select item 148968557120.

rs1489685571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:36126315 (GRCh38)
5:36126418 (GRCh37)
Canonical SPDI:: NC_000005.10:36126315:AAAAAA:AAAAAAA
Gene:: LMBRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36126321dup, NC_000005.9:g.36126423dup

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