SNP Links for Gene (Select 4481) - SNP

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Select item 14915882461.

rs1491588246 has merged into rs60866666 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:16120626 (GRCh38)
8:15978135 (GRCh37)
Canonical SPDI:: NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16120616:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.5/20 (GENOME_DK)
HGVS:: NC_000008.11:g.16120626_16120641del, NC_000008.11:g.16120630_16120641del, NC_000008.11:g.16120632_16120641del, NC_000008.11:g.16120634_16120641del, NC_000008.11:g.16120635_16120641del, NC_000008.11:g.16120636_16120641del, NC_000008.11:g.16120637_16120641del, NC_000008.11:g.16120638_16120641del, NC_000008.11:g.16120639_16120641del, NC_000008.11:g.16120640_16120641del, NC_000008.11:g.16120641del, NC_000008.11:g.16120641dup, NC_000008.11:g.16120640_16120641dup, NC_000008.11:g.16120639_16120641dup, NC_000008.11:g.16120638_16120641dup, NC_000008.11:g.16120637_16120641dup, NC_000008.11:g.16120636_16120641dup, NC_000008.11:g.16120635_16120641dup, NC_000008.11:g.16120634_16120641dup, NC_000008.11:g.16120633_16120641dup, NC_000008.11:g.16120632_16120641dup, NC_000008.11:g.16120631_16120641dup, NC_000008.11:g.16120630_16120641dup, NC_000008.11:g.16120629_16120641dup, NC_000008.11:g.16120628_16120641dup, NC_000008.11:g.16120627_16120641dup, NC_000008.11:g.16120625_16120641dup, NC_000008.11:g.16120623_16120641dup, NC_000008.11:g.16120621_16120641dup, NC_000008.11:g.16120620_16120641dup, NC_000008.11:g.16120641_16120642insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.16120641_16120642insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.16120617_16120641A[26]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.15978135_15978150del, NC_000008.10:g.15978139_15978150del, NC_000008.10:g.15978141_15978150del, NC_000008.10:g.15978143_15978150del, NC_000008.10:g.15978144_15978150del, NC_000008.10:g.15978145_15978150del, NC_000008.10:g.15978146_15978150del, NC_000008.10:g.15978147_15978150del, NC_000008.10:g.15978148_15978150del, NC_000008.10:g.15978149_15978150del, NC_000008.10:g.15978150del, NC_000008.10:g.15978150dup, NC_000008.10:g.15978149_15978150dup, NC_000008.10:g.15978148_15978150dup, NC_000008.10:g.15978147_15978150dup, NC_000008.10:g.15978146_15978150dup, NC_000008.10:g.15978145_15978150dup, NC_000008.10:g.15978144_15978150dup, NC_000008.10:g.15978143_15978150dup, NC_000008.10:g.15978142_15978150dup, NC_000008.10:g.15978141_15978150dup, NC_000008.10:g.15978140_15978150dup, NC_000008.10:g.15978139_15978150dup, NC_000008.10:g.15978138_15978150dup, NC_000008.10:g.15978137_15978150dup, NC_000008.10:g.15978136_15978150dup, NC_000008.10:g.15978134_15978150dup, NC_000008.10:g.15978132_15978150dup, NC_000008.10:g.15978130_15978150dup, NC_000008.10:g.15978129_15978150dup, NC_000008.10:g.15978150_15978151insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.15978150_15978151insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.15978126_15978150A[26]GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012102.1:g.77160_77175del, NG_012102.1:g.77164_77175del, NG_012102.1:g.77166_77175del, NG_012102.1:g.77168_77175del, NG_012102.1:g.77169_77175del, NG_012102.1:g.77170_77175del, NG_012102.1:g.77171_77175del, NG_012102.1:g.77172_77175del, NG_012102.1:g.77173_77175del, NG_012102.1:g.77174_77175del, NG_012102.1:g.77175del, NG_012102.1:g.77175dup, NG_012102.1:g.77174_77175dup, NG_012102.1:g.77173_77175dup, NG_012102.1:g.77172_77175dup, NG_012102.1:g.77171_77175dup, NG_012102.1:g.77170_77175dup, NG_012102.1:g.77169_77175dup, NG_012102.1:g.77168_77175dup, NG_012102.1:g.77167_77175dup, NG_012102.1:g.77166_77175dup, NG_012102.1:g.77165_77175dup, NG_012102.1:g.77164_77175dup, NG_012102.1:g.77163_77175dup, NG_012102.1:g.77162_77175dup, NG_012102.1:g.77161_77175dup, NG_012102.1:g.77159_77175dup, NG_012102.1:g.77157_77175dup, NG_012102.1:g.77155_77175dup, NG_012102.1:g.77154_77175dup, NG_012102.1:g.77175_77176insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012102.1:g.77175_77176insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012102.1:g.77151_77175T[32]CCTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915506302.

rs1491550630 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGA,GTGTGTGA [Show Flanks]
Chromosome:: 8:16150141 (GRCh38)
8:16007651 (GRCh37)
Canonical SPDI:: NC_000008.11:16150141::GTGA,NC_000008.11:16150141::GTGTGTGA
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGA=0./0 (ALFA)
GTGA=0.00256/12 (GnomAD)
HGVS:: NC_000008.11:g.16150141_16150142insGTGA, NC_000008.11:g.16150141_16150142insGTGTGTGA, NC_000008.10:g.16007650_16007651insGTGA, NC_000008.10:g.16007650_16007651insGTGTGTGA, NG_012102.1:g.47650_47651insTCAC, NG_012102.1:g.47650_47651insTCACACAC

Select item 14914828013.

rs1491482801 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:16131440 (GRCh38)
8:15988949 (GRCh37)
Canonical SPDI:: NC_000008.11:16131439:AG:
Gene:: MSR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002698/32 (ALFA)
-=0.004175/471 (GnomAD)
-=0.006871/44 (1000Genomes)
HGVS:: NC_000008.11:g.16131440_16131441del, NC_000008.10:g.15988949_15988950del, NG_012102.1:g.66351_66352del

Select item 14914812164.

rs1491481216 has merged into rs57992683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 8:16183909 (GRCh38)
8:16041418 (GRCh37)
Canonical SPDI:: NC_000008.11:16183897:TATATATATATATAT:TATATATATAT,NC_000008.11:16183897:TATATATATATATAT:TATATATATATAT,NC_000008.11:16183897:TATATATATATATAT:TATATATATATATATAT,NC_000008.11:16183897:TATATATATATATAT:TATATATATATATATATAT
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0.000709/12 (ALFA)
-=0.015/9 (NorthernSweden)
-=0.088235/3 (GENOME_DK)
-=0.09051/23957 (TOPMED)
-=0.19389/971 (1000Genomes)
HGVS:: NC_000008.11:g.16183899AT[5], NC_000008.11:g.16183899AT[6], NC_000008.11:g.16183899AT[8], NC_000008.11:g.16183899AT[9], NC_000008.10:g.16041408AT[5], NC_000008.10:g.16041408AT[6], NC_000008.10:g.16041408AT[8], NC_000008.10:g.16041408AT[9], NG_012102.1:g.13881TA[5], NG_012102.1:g.13881TA[6], NG_012102.1:g.13881TA[8], NG_012102.1:g.13881TA[9]

Select item 14914731975.

rs1491473197 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:16193537 (GRCh38)
8:16051046 (GRCh37)
Canonical SPDI:: NC_000008.11:16193536:CA:
Gene:: MSR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00064/18 (TOMMO)
HGVS:: NC_000008.11:g.16193537_16193538del, NC_000008.10:g.16051046_16051047del, NG_012102.1:g.4254_4255del

Select item 14914630766.

rs1491463076 has merged into rs1187854639 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:16193547 (GRCh38)
8:16051056 (GRCh37)
Canonical SPDI:: NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:16193537:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.16193547_16193558del, NC_000008.11:g.16193548_16193558del, NC_000008.11:g.16193549_16193558del, NC_000008.11:g.16193550_16193558del, NC_000008.11:g.16193556_16193558del, NC_000008.11:g.16193557_16193558del, NC_000008.11:g.16193558del, NC_000008.11:g.16193558dup, NC_000008.11:g.16193557_16193558dup, NC_000008.11:g.16193556_16193558dup, NC_000008.11:g.16193555_16193558dup, NC_000008.11:g.16193554_16193558dup, NC_000008.11:g.16193553_16193558dup, NC_000008.11:g.16193552_16193558dup, NC_000008.10:g.16051056_16051067del, NC_000008.10:g.16051057_16051067del, NC_000008.10:g.16051058_16051067del, NC_000008.10:g.16051059_16051067del, NC_000008.10:g.16051065_16051067del, NC_000008.10:g.16051066_16051067del, NC_000008.10:g.16051067del, NC_000008.10:g.16051067dup, NC_000008.10:g.16051066_16051067dup, NC_000008.10:g.16051065_16051067dup, NC_000008.10:g.16051064_16051067dup, NC_000008.10:g.16051063_16051067dup, NC_000008.10:g.16051062_16051067dup, NC_000008.10:g.16051061_16051067dup, NG_012102.1:g.4243_4254del, NG_012102.1:g.4244_4254del, NG_012102.1:g.4245_4254del, NG_012102.1:g.4246_4254del, NG_012102.1:g.4252_4254del, NG_012102.1:g.4253_4254del, NG_012102.1:g.4254del, NG_012102.1:g.4254dup, NG_012102.1:g.4253_4254dup, NG_012102.1:g.4252_4254dup, NG_012102.1:g.4251_4254dup, NG_012102.1:g.4250_4254dup, NG_012102.1:g.4249_4254dup, NG_012102.1:g.4248_4254dup

Select item 14914543057.

rs1491454305 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:16158951 (GRCh38)
8:16016460 (GRCh37)
Canonical SPDI:: NC_000008.11:16158950:TC:
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.16158951_16158952del, NC_000008.10:g.16016460_16016461del, NG_012102.1:g.38840_38841del

Select item 14914471468.

rs1491447146 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTATATATATTTTATATATATAAAATCTTATTTTATATAT>-,TTTTATATATATTTTATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATAT [Show Flanks]
Chromosome:: 8:16189360 (GRCh38)
8:16046869 (GRCh37)
Canonical SPDI:: NC_000008.11:16189331:TATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATAT:TATATATATAAAATCTTATTTTATATAT,NC_000008.11:16189331:TATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATAT:TATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATAT
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATATTTTTATATATATTTTATATATATAAAATCTTATTTTATATAT=0.0031/14 (ALFA)
TATATATATAAAATCTTATTTTATATATTTTTATATATATTT=0.01/6 (NorthernSweden)
HGVS:: NC_000008.11:g.16189360_16189401del, NC_000008.11:g.16189360_16189401dup, NC_000008.10:g.16046869_16046910del, NC_000008.10:g.16046869_16046910dup, NG_012102.1:g.8419_8460del, NG_012102.1:g.8419_8460dup

Select item 14914380059.

rs1491438005 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC [Show Flanks]
Chromosome:: 8:16166936 (GRCh38)
8:16024446 (GRCh37)
Canonical SPDI:: NC_000008.11:16166936::GC
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
HGVS:: NC_000008.11:g.16166936_16166937insGC, NC_000008.10:g.16024445_16024446insGC, NG_012102.1:g.30855_30856insGC

Select item 149140367110.

rs1491403671 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:16112943 (GRCh38)
8:15970452 (GRCh37)
Canonical SPDI:: NC_000008.11:16112942:GT:
Gene:: MSR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01156/187 (ALFA)
-=0.021312/2317 (GnomAD)
-=0.144315/2395 (TOMMO)
HGVS:: NC_000008.11:g.16112943_16112944del, NC_000008.10:g.15970452_15970453del, NG_012102.1:g.84848_84849del

Select item 149136836411.

rs1491368364 has merged into rs1441561280 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT [Show Flanks]
Chromosome:: 8:16189404 (GRCh38)
8:16046913 (GRCh37)
Canonical SPDI:: NC_000008.11:16189402:TTTT:T,NC_000008.11:16189402:TTTT:TT,NC_000008.11:16189402:TTTT:TTT
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.16189404_16189406del, NC_000008.11:g.16189405_16189406del, NC_000008.11:g.16189406del, NC_000008.10:g.16046913_16046915del, NC_000008.10:g.16046914_16046915del, NC_000008.10:g.16046915del, NG_012102.1:g.8387_8389del, NG_012102.1:g.8388_8389del, NG_012102.1:g.8389del

Select item 149134064412.

rs1491340644 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAATC [Show Flanks]
Chromosome:: 8:16189403 (GRCh38)
8:16046913 (GRCh37)
Canonical SPDI:: NC_000008.11:16189403::AAAATC
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAATC=0.00143/17 (ALFA)
HGVS:: NC_000008.11:g.16189403_16189404insAAAATC, NC_000008.10:g.16046912_16046913insAAAATC, NG_012102.1:g.8388_8389insGATTTT

Select item 149130843113.

rs1491308431 has merged into rs1298640256 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 8:16189340 (GRCh38)
8:16046849 (GRCh37)
Canonical SPDI:: NC_000008.11:16189330:ATATATATATA:ATATATATA,NC_000008.11:16189330:ATATATATATA:ATATATATATATA,NC_000008.11:16189330:ATATATATATA:ATATATATATATATA
Gene:: MSR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
-=0.00494/82 (TOMMO)
-=0.0056/9 (Korea1K)
HGVS:: NC_000008.11:g.16189332TA[4], NC_000008.11:g.16189332TA[6], NC_000008.11:g.16189332TA[7], NC_000008.10:g.16046841TA[4], NC_000008.10:g.16046841TA[6], NC_000008.10:g.16046841TA[7], NG_012102.1:g.8452AT[4], NG_012102.1:g.8452AT[6], NG_012102.1:g.8452AT[7]

Select item 149129586714.

rs1491295867 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTGTTTTTTTTTTTTT,GTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:16131440 (GRCh38)
8:15988950 (GRCh37)
Canonical SPDI:: NC_000008.11:16131440:GTTTTTTTTTTTTT:GTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTT,NC_000008.11:16131440:GTTTTTTTTTTTTT:GTTTTTTTTTTTTTGTTTTTTTTTTTTT
Gene:: MSR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTTTTTTTTTTTGTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.16131454_16131455insGTTTTTTGTTTTTTTTTTTTT, NC_000008.11:g.16131441_16131454dup, NC_000008.10:g.15988963_15988964insGTTTTTTGTTTTTTTTTTTTT, NC_000008.10:g.15988950_15988963dup, NG_012102.1:g.66338_66351A[13]CAAAAAA[2]A[7]C[1], NG_012102.1:g.66338_66351dup

Select item 149128819315.

rs1491288193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:16131465 (GRCh38)
8:15988975 (GRCh37)
Canonical SPDI:: NC_000008.11:16131465:G:GG
Gene:: MSR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000008.11:g.16131466dup, NC_000008.10:g.15988975dup, NG_012102.1:g.66326dup

Select item 149128789716.

rs1491287897 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:16166936 (GRCh38)
8:16024445 (GRCh37)
Canonical SPDI:: NC_000008.11:16166935:TA:
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.16166936_16166937del, NC_000008.10:g.16024445_16024446del, NG_012102.1:g.30855_30856del

Select item 149128227817.

rs1491282278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:16158951 (GRCh38)
8:16016461 (GRCh37)
Canonical SPDI:: NC_000008.11:16158951:C:CC
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.16158952dup, NC_000008.10:g.16016461dup, NG_012102.1:g.38840dup

Select item 149127233018.

rs1491272330 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:16123523 (GRCh38)
8:15981032 (GRCh37)
Canonical SPDI:: NC_000008.11:16123522:CT:
Gene:: MSR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.16123523_16123524del, NC_000008.10:g.15981032_15981033del, NG_012102.1:g.74268_74269del

Select item 149122812919.

rs1491228129 has merged into rs11300796 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 8:16170355 (GRCh38)
8:16027864 (GRCh37)
Canonical SPDI:: NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:16170347:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.071/130 (Korea1K)
A=0.3545/212 (NorthernSweden)
A=0.3916/1961 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000008.11:g.16170355_16170360del, NC_000008.11:g.16170358_16170360del, NC_000008.11:g.16170359_16170360del, NC_000008.11:g.16170360del, NC_000008.11:g.16170360dup, NC_000008.11:g.16170359_16170360dup, NC_000008.11:g.16170358_16170360dup, NC_000008.11:g.16170357_16170360dup, NC_000008.10:g.16027864_16027869del, NC_000008.10:g.16027867_16027869del, NC_000008.10:g.16027868_16027869del, NC_000008.10:g.16027869del, NC_000008.10:g.16027869dup, NC_000008.10:g.16027868_16027869dup, NC_000008.10:g.16027867_16027869dup, NC_000008.10:g.16027866_16027869dup, NG_012102.1:g.27439_27444del, NG_012102.1:g.27442_27444del, NG_012102.1:g.27443_27444del, NG_012102.1:g.27444del, NG_012102.1:g.27444dup, NG_012102.1:g.27443_27444dup, NG_012102.1:g.27442_27444dup, NG_012102.1:g.27441_27444dup

Select item 149120418220.

rs1491204182 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:16189275 (GRCh38)
8:16046785 (GRCh37)
Canonical SPDI:: NC_000008.11:16189275::T
Gene:: MSR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000873/110 (GnomAD)
HGVS:: NC_000008.11:g.16189275_16189276insT, NC_000008.10:g.16046784_16046785insT, NG_012102.1:g.8516_8517insA

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