SNP Links for Gene (Select 79173) - SNP

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Select item 14915042381.

rs1491504238 has merged into rs1159325305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:13898935 (GRCh38)
19:14009748 (GRCh37)
Canonical SPDI:: NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13898923:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.13898935_13898945del, NC_000019.10:g.13898937_13898945del, NC_000019.10:g.13898938_13898945del, NC_000019.10:g.13898939_13898945del, NC_000019.10:g.13898940_13898945del, NC_000019.10:g.13898942_13898945del, NC_000019.10:g.13898943_13898945del, NC_000019.10:g.13898944_13898945del, NC_000019.10:g.13898945del, NC_000019.10:g.13898945dup, NC_000019.10:g.13898944_13898945dup, NC_000019.10:g.13898943_13898945dup, NC_000019.10:g.13898942_13898945dup, NC_000019.10:g.13898941_13898945dup, NC_000019.10:g.13898940_13898945dup, NC_000019.10:g.13898939_13898945dup, NC_000019.9:g.14009748_14009758del, NC_000019.9:g.14009750_14009758del, NC_000019.9:g.14009751_14009758del, NC_000019.9:g.14009752_14009758del, NC_000019.9:g.14009753_14009758del, NC_000019.9:g.14009755_14009758del, NC_000019.9:g.14009756_14009758del, NC_000019.9:g.14009757_14009758del, NC_000019.9:g.14009758del, NC_000019.9:g.14009758dup, NC_000019.9:g.14009757_14009758dup, NC_000019.9:g.14009756_14009758dup, NC_000019.9:g.14009755_14009758dup, NC_000019.9:g.14009754_14009758dup, NC_000019.9:g.14009753_14009758dup, NC_000019.9:g.14009752_14009758dup, NW_021160022.1:g.110776_110786del, NW_021160022.1:g.110778_110786del, NW_021160022.1:g.110779_110786del, NW_021160022.1:g.110780_110786del, NW_021160022.1:g.110781_110786del, NW_021160022.1:g.110783_110786del, NW_021160022.1:g.110784_110786del, NW_021160022.1:g.110785_110786del, NW_021160022.1:g.110786del, NW_021160022.1:g.110786dup, NW_021160022.1:g.110785_110786dup, NW_021160022.1:g.110784_110786dup, NW_021160022.1:g.110783_110786dup, NW_021160022.1:g.110782_110786dup, NW_021160022.1:g.110781_110786dup, NW_021160022.1:g.110780_110786dup

Select item 14913471062.

rs1491347106 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:13898923 (GRCh38)
19:14009736 (GRCh37)
Canonical SPDI:: NC_000019.10:13898922:CA:
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000019.10:g.13898923_13898924del, NC_000019.9:g.14009736_14009737del, NW_021160022.1:g.110764_110765del

Select item 14912354503.

rs1491235450 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:13903672 (GRCh38)
19:14014486 (GRCh37)
Canonical SPDI:: NC_000019.10:13903672::A
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.00012/2 (TOMMO)
A=0.000587/64 (GnomAD)
HGVS:: NC_000019.10:g.13903672_13903673insA, NC_000019.9:g.14014485_14014486insA, NG_013089.1:g.2530_2531insA, NW_021160022.1:g.115513_115514insA

Select item 14911879594.

rs1491187959 [Homo sapiens]

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

Select item 14910872155.

rs1491087215 has merged into rs35586400 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:13887782 (GRCh38)
19:13998595 (GRCh37)
Canonical SPDI:: NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:13887770:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: BRME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.08249/49 (NorthernSweden)
T=0.30731/1539 (1000Genomes)
HGVS:: NC_000019.10:g.13887782_13887785del, NC_000019.10:g.13887783_13887785del, NC_000019.10:g.13887784_13887785del, NC_000019.10:g.13887785del, NC_000019.10:g.13887785dup, NC_000019.10:g.13887784_13887785dup, NC_000019.10:g.13887783_13887785dup, NC_000019.10:g.13887782_13887785dup, NC_000019.9:g.13998595_13998598del, NC_000019.9:g.13998596_13998598del, NC_000019.9:g.13998597_13998598del, NC_000019.9:g.13998598del, NC_000019.9:g.13998598dup, NC_000019.9:g.13998597_13998598dup, NC_000019.9:g.13998596_13998598dup, NC_000019.9:g.13998595_13998598dup, NW_021160022.1:g.99623_99626del, NW_021160022.1:g.99624_99626del, NW_021160022.1:g.99625_99626del, NW_021160022.1:g.99626del, NW_021160022.1:g.99626dup, NW_021160022.1:g.99625_99626dup, NW_021160022.1:g.99624_99626dup, NW_021160022.1:g.99623_99626dup

Select item 14908186296.

rs1490818629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13887228 (GRCh38)
19:13998041 (GRCh37)
Canonical SPDI:: NC_000019.10:13887227:G:A,NC_000019.10:13887227:G:C
Gene:: BRME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13887228G>A, NC_000019.10:g.13887228G>C, NC_000019.9:g.13998041G>A, NC_000019.9:g.13998041G>C, NW_021160022.1:g.99069G>A, NW_021160022.1:g.99069G>C

Select item 14906078717.

rs1490607871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13893990 (GRCh38)
19:14004803 (GRCh37)
Canonical SPDI:: NC_000019.10:13893989:A:G
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13893990A>G, NC_000019.9:g.14004803A>G, NW_021160022.1:g.105831A>G

Select item 14900087508.

rs1490008750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13902253 (GRCh38)
19:14013066 (GRCh37)
Canonical SPDI:: NC_000019.10:13902252:C:T
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000019.10:g.13902253C>T, NC_000019.9:g.14013066C>T, NG_013089.1:g.1111C>T, NW_021160022.1:g.114094C>T

Select item 14899533759.

rs1489953375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13899625 (GRCh38)
19:14010438 (GRCh37)
Canonical SPDI:: NC_000019.10:13899624:G:A,NC_000019.10:13899624:G:C
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13899625G>A, NC_000019.10:g.13899625G>C, NC_000019.9:g.14010438G>A, NC_000019.9:g.14010438G>C, NW_021160022.1:g.111466G>A, NW_021160022.1:g.111466G>C

Select item 148994074710.

rs1489940747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:13903527 (GRCh38)
19:14014340 (GRCh37)
Canonical SPDI:: NC_000019.10:13903526:G:T
Gene:: BRME1 (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_000019.10:g.13903527G>T, NC_000019.9:g.14014340G>T, NG_013089.1:g.2385G>T, NW_021160022.1:g.115368G>T

Select item 148978230511.

rs1489782305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:13894442 (GRCh38)
19:14005255 (GRCh37)
Canonical SPDI:: NC_000019.10:13894441:T:G
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13894442T>G, NC_000019.9:g.14005255T>G, NW_021160022.1:g.106283T>G

Select item 148949781612.

rs1489497816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13892591 (GRCh38)
19:14003404 (GRCh37)
Canonical SPDI:: NC_000019.10:13892590:A:G
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000019.10:g.13892591A>G, NC_000019.9:g.14003404A>G, NW_021160022.1:g.104432A>G, NM_001393649.1:c.*183T>C

Select item 148947213713.

rs1489472137 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:13893156 (GRCh38)
19:14003969 (GRCh37)
Canonical SPDI:: NC_000019.10:13893155:GGGG:GGG
Gene:: BRME1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13893159del, NC_000019.9:g.14003972del, NW_021160022.1:g.105000del, NM_024323.5:c.274del, NM_024323.4:c.274del, NM_024323.3:c.274del, XM_011528287.3:c.-81del, XM_011528287.2:c.-81del, XM_011528287.1:c.-81del, NM_001345844.2:c.274del, NM_001345844.1:c.691del, NM_001345847.2:c.-81del, NM_001345847.1:c.-81del, XM_024451717.2:c.274del, XM_024451717.1:c.274del, NM_001345846.2:c.-81del, NM_001345846.1:c.-81del, XM_024451718.2:c.691del, XM_024451718.1:c.691del, NM_001345848.2:c.274del, NM_001345848.1:c.691del, XM_024451712.2:c.691del, XM_024451712.1:c.691del, NM_001345843.2:c.274del, NM_001345843.1:c.691del, XM_024451716.2:c.274del, XM_024451716.1:c.274del, XR_007067012.1:n.698del, XR_007067010.1:n.698del, XR_007067011.1:n.698del, XM_047439431.1:c.-81del, NM_001393646.1:c.274del, XR_007067013.1:n.354del, XM_047439430.1:c.274del, NM_001393645.1:c.274del, NM_001393649.1:c.274del, NM_001393647.1:c.-81del, NM_001393648.1:c.274del, NP_077299.3:p.Leu92fs, NP_001332773.2:p.Leu92fs, XP_024307485.1:p.Leu92fs, XP_024307486.1:p.Leu231fs, NP_001332777.2:p.Leu92fs, XP_024307480.1:p.Leu231fs, NP_001332772.2:p.Leu92fs, XP_024307484.1:p.Leu92fs, NP_001380575.1:p.Leu92fs, XP_047295386.1:p.Leu92fs, NP_001380574.1:p.Leu92fs, NP_001380578.1:p.Leu92fs, NP_001380577.1:p.Leu92fs

Select item 148936541214.

rs1489365412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:13886365 (GRCh38)
19:13997178 (GRCh37)
Canonical SPDI:: NC_000019.10:13886364:G:T
Gene:: BRME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13886365G>T, NC_000019.9:g.13997178G>T, NW_021160022.1:g.98206G>T

Select item 148930994215.

rs1489309942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:13898904 (GRCh38)
19:14009717 (GRCh37)
Canonical SPDI:: NC_000019.10:13898903:C:A
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00101/12 (ALFA)
A=0.00088/25 (TOMMO)
HGVS:: NC_000019.10:g.13898904C>A, NC_000019.9:g.14009717C>A, NW_021160022.1:g.110745C>A

Select item 148910568516.

rs1489105685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13906467 (GRCh38)
19:14017280 (GRCh37)
Canonical SPDI:: NC_000019.10:13906466:G:A
Gene:: CC2D1A (Varview), BRME1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13906467G>A, NC_000019.9:g.14017280G>A, NG_013089.1:g.5325G>A, NM_017721.5:c.26G>A, NM_017721.4:c.26G>A, NM_001411138.1:c.26G>A, NW_021160022.1:g.118308G>A, XM_047439013.1:c.26G>A, XM_047439012.1:c.26G>A, XM_047439014.1:c.26G>A, XM_047439015.1:c.26G>A, XM_047439017.1:c.26G>A, XM_047439016.1:c.26G>A, XM_047439018.1:c.26G>A, NP_060191.3:p.Gly9Glu, XP_047294969.1:p.Gly9Glu, XP_047294968.1:p.Gly9Glu, XP_047294970.1:p.Gly9Glu, XP_047294971.1:p.Gly9Glu, XP_047294973.1:p.Gly9Glu, XP_047294972.1:p.Gly9Glu, XP_047294974.1:p.Gly9Glu

Select item 148907998617.

rs1489079986 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:13882654 (GRCh38)
19:13993468 (GRCh37)
Canonical SPDI:: NC_000019.10:13882654:GG:GGG
Gene:: BRME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.13882656dup, NC_000019.9:g.13993469dup, NW_021160022.1:g.94497dup, NM_024323.5:c.*147dup, NM_024323.4:c.*147dup, NM_024323.3:c.*147dup, NM_001345843.2:c.*147dup, NM_001345843.1:c.*147dup, NM_001345844.2:c.*147dup, NM_001345844.1:c.*147dup, NM_001345846.2:c.*147dup, NM_001345846.1:c.*147dup, NM_001345847.2:c.*147dup, NM_001345847.1:c.*147dup, NM_001345848.2:c.*147dup, NM_001345848.1:c.*147dup, NM_001393645.1:c.*147dup, NM_001393647.1:c.*147dup, NM_001393648.1:c.*147dup, NM_001393646.1:c.*147dup, XM_047439430.1:c.*147dup

Select item 148900283018.

rs1489002830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13893131 (GRCh38)
19:14003944 (GRCh37)
Canonical SPDI:: NC_000019.10:13893130:G:A
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13893131G>A, NC_000019.9:g.14003944G>A, NW_021160022.1:g.104972G>A

Select item 148898864219.

rs1488988642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:13887633 (GRCh38)
19:13998446 (GRCh37)
Canonical SPDI:: NC_000019.10:13887632:C:A,NC_000019.10:13887632:C:G
Gene:: BRME1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
G=0.000495/14 (TOMMO)
HGVS:: NC_000019.10:g.13887633C>A, NC_000019.10:g.13887633C>G, NC_000019.9:g.13998446C>A, NC_000019.9:g.13998446C>G, NW_021160022.1:g.99474C>A, NW_021160022.1:g.99474C>G

Select item 148890860220.

rs1488908602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:13899595 (GRCh38)
19:14010408 (GRCh37)
Canonical SPDI:: NC_000019.10:13899594:G:C
Gene:: BRME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13899595G>C, NC_000019.9:g.14010408G>C, NW_021160022.1:g.111436G>C

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