SNP Links for Gene (Select 100287366) - SNP

Links from Gene

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Select item 14915589831.

rs1491558983 has merged into rs10630490 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:108143811 (GRCh38)
6:108465015 (GRCh37)
Canonical SPDI:: NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:108143802:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.1334/668 (1000Genomes)
HGVS:: NC_000006.12:g.108143811_108143818del, NC_000006.12:g.108143813_108143818del, NC_000006.12:g.108143814_108143818del, NC_000006.12:g.108143816_108143818del, NC_000006.12:g.108143817_108143818del, NC_000006.12:g.108143818del, NC_000006.12:g.108143818dup, NC_000006.12:g.108143817_108143818dup, NC_000006.12:g.108143816_108143818dup, NC_000006.12:g.108143815_108143818dup, NC_000006.12:g.108143809_108143818dup, NC_000006.11:g.108465015_108465022del, NC_000006.11:g.108465017_108465022del, NC_000006.11:g.108465018_108465022del, NC_000006.11:g.108465020_108465022del, NC_000006.11:g.108465021_108465022del, NC_000006.11:g.108465022del, NC_000006.11:g.108465022dup, NC_000006.11:g.108465021_108465022dup, NC_000006.11:g.108465020_108465022dup, NC_000006.11:g.108465019_108465022dup, NC_000006.11:g.108465013_108465022dup

Select item 14915373272.

rs1491537327 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:108143177 (GRCh38)
6:108464381 (GRCh37)
Canonical SPDI:: NC_000006.12:108143176:CT:
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.108143177_108143178del, NC_000006.11:g.108464381_108464382del

Select item 14915058183.

rs1491505818 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 6:108140105 (GRCh38)
6:108461310 (GRCh37)
Canonical SPDI:: NC_000006.12:108140105:AAATAAA:AAATAAATAAA
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAA=0./0 (ALFA)
AAAT=0.0003/7 (GnomAD)
AAAT=0.00124/21 (TOMMO)
AAAT=0.00167/3 (Korea1K)
HGVS:: NC_000006.12:g.108140109_108140112dup, NC_000006.11:g.108461313_108461316dup

Select item 14914380524.

rs1491438052 has merged into rs754502744 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AACAAAA [Show Flanks]
Chromosome:: 6:108140112 (GRCh38)
6:108461316 (GRCh37)
Canonical SPDI:: NC_000006.12:108140109:AAAA:AA,NC_000006.12:108140109:AAAA:AAA,NC_000006.12:108140109:AAAA:AAAACAAAA
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000126/6 (GnomAD)
-=0.002222/4 (Korea1K)
CAAAA=0.040992/152 (TWINSUK)
AAAAC=0.052932/204 (ALSPAC)
HGVS:: NC_000006.12:g.108140112_108140113del, NC_000006.12:g.108140113del, NC_000006.12:g.108140110_108140113A[4]CAAAA[1], NC_000006.11:g.108461316_108461317del, NC_000006.11:g.108461317del, NC_000006.11:g.108461314_108461317A[4]CAAAA[1]

Select item 14914252705.

rs1491425270 has merged into rs1434972562 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 6:108143595 (GRCh38)
6:108464799 (GRCh37)
Canonical SPDI:: NC_000006.12:108143593:GGG:G,NC_000006.12:108143593:GGG:GGGGG
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00109/7 (1000Genomes)
HGVS:: NC_000006.12:g.108143595_108143596del, NC_000006.12:g.108143595_108143596dup, NC_000006.11:g.108464799_108464800del, NC_000006.11:g.108464799_108464800dup

Select item 14914098176.

rs1491409817 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:108143594 (GRCh38)
6:108464799 (GRCh37)
Canonical SPDI:: NC_000006.12:108143594::T
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00143/160 (GnomAD)
HGVS:: NC_000006.12:g.108143594_108143595insT, NC_000006.11:g.108464798_108464799insT

Select item 14913910927.

rs1491391092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:108140107 (GRCh38)
6:108461311 (GRCh37)
Canonical SPDI:: NC_000006.12:108140104:AAAA:AA
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.108140107_108140108del, NC_000006.11:g.108461311_108461312del

Select item 14913582588.

rs1491358258 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:108152719 (GRCh38)
6:108473923 (GRCh37)
Canonical SPDI:: NC_000006.12:108152718:CT:
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00118/14 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000006.12:g.108152719_108152720del, NC_000006.11:g.108473923_108473924del

Select item 14913504529.

rs1491350452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 6:108140145 (GRCh38)
6:108461350 (GRCh37)
Canonical SPDI:: NC_000006.12:108140145:AA:AATAA
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AATAA=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.108140147_108140148insTAA, NC_000006.11:g.108461351_108461352insTAA

Select item 149126799710.

rs1491267997 has merged into rs11299327 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 6:108143188 (GRCh38)
6:108464392 (GRCh37)
Canonical SPDI:: NC_000006.12:108143177:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:108143177:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:108143177:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3457/345 (GoNL)
-=0.35/14 (GENOME_DK)
-=0.3733/224 (NorthernSweden)
-=0.4447/2227 (1000Genomes)
HGVS:: NC_000006.12:g.108143188_108143189del, NC_000006.12:g.108143189del, NC_000006.12:g.108143189dup, NC_000006.11:g.108464392_108464393del, NC_000006.11:g.108464393del, NC_000006.11:g.108464393dup

Select item 149123747711.

rs1491237477 has merged into rs144213771 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:108146714 (GRCh38)
6:108467918 (GRCh37)
Canonical SPDI:: NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:108146700:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.3113/1559 (1000Genomes)
TG=0.3283/197 (NorthernSweden)
TG=0.35/14 (GENOME_DK)
HGVS:: NC_000006.12:g.108146702GT[6], NC_000006.12:g.108146702GT[7], NC_000006.12:g.108146702GT[8], NC_000006.12:g.108146702GT[10], NC_000006.12:g.108146702GT[11], NC_000006.12:g.108146702GT[12], NC_000006.11:g.108467906GT[6], NC_000006.11:g.108467906GT[7], NC_000006.11:g.108467906GT[8], NC_000006.11:g.108467906GT[10], NC_000006.11:g.108467906GT[11], NC_000006.11:g.108467906GT[12]

Select item 149119767312.

rs1491197673 has merged into rs1260783451 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAAAAA [Show Flanks]
Chromosome:: 6:108140116 (GRCh38)
6:108461320 (GRCh37)
Canonical SPDI:: NC_000006.12:108140114:AAAA:A,NC_000006.12:108140114:AAAA:AA,NC_000006.12:108140114:AAAA:AAA,NC_000006.12:108140114:AAAA:AAAAAAAA
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.108140116_108140118del, NC_000006.12:g.108140117_108140118del, NC_000006.12:g.108140118del, NC_000006.12:g.108140115_108140118dup, NC_000006.11:g.108461320_108461322del, NC_000006.11:g.108461321_108461322del, NC_000006.11:g.108461322del, NC_000006.11:g.108461319_108461322dup

Select item 149118602913.

rs1491186029 has merged into rs33972971 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:108142333 (GRCh38)
6:108463537 (GRCh37)
Canonical SPDI:: NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:108142323:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2193/845 (ALSPAC)
-=0.2694/1349 (1000Genomes)
HGVS:: NC_000006.12:g.108142333_108142346del, NC_000006.12:g.108142334_108142346del, NC_000006.12:g.108142335_108142346del, NC_000006.12:g.108142336_108142346del, NC_000006.12:g.108142337_108142346del, NC_000006.12:g.108142338_108142346del, NC_000006.12:g.108142339_108142346del, NC_000006.12:g.108142340_108142346del, NC_000006.12:g.108142341_108142346del, NC_000006.12:g.108142342_108142346del, NC_000006.12:g.108142343_108142346del, NC_000006.12:g.108142344_108142346del, NC_000006.12:g.108142345_108142346del, NC_000006.12:g.108142346del, NC_000006.12:g.108142346dup, NC_000006.12:g.108142345_108142346dup, NC_000006.12:g.108142344_108142346dup, NC_000006.12:g.108142343_108142346dup, NC_000006.12:g.108142342_108142346dup, NC_000006.12:g.108142338_108142346dup, NC_000006.12:g.108142333_108142346dup, NC_000006.12:g.108142330_108142346dup, NC_000006.12:g.108142327_108142346dup, NC_000006.12:g.108142346_108142347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.108463537_108463550del, NC_000006.11:g.108463538_108463550del, NC_000006.11:g.108463539_108463550del, NC_000006.11:g.108463540_108463550del, NC_000006.11:g.108463541_108463550del, NC_000006.11:g.108463542_108463550del, NC_000006.11:g.108463543_108463550del, NC_000006.11:g.108463544_108463550del, NC_000006.11:g.108463545_108463550del, NC_000006.11:g.108463546_108463550del, NC_000006.11:g.108463547_108463550del, NC_000006.11:g.108463548_108463550del, NC_000006.11:g.108463549_108463550del, NC_000006.11:g.108463550del, NC_000006.11:g.108463550dup, NC_000006.11:g.108463549_108463550dup, NC_000006.11:g.108463548_108463550dup, NC_000006.11:g.108463547_108463550dup, NC_000006.11:g.108463546_108463550dup, NC_000006.11:g.108463542_108463550dup, NC_000006.11:g.108463537_108463550dup, NC_000006.11:g.108463534_108463550dup, NC_000006.11:g.108463531_108463550dup, NC_000006.11:g.108463550_108463551insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149118499514.

rs1491184995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 6:108140110 (GRCh38)
6:108461315 (GRCh37)
Canonical SPDI:: NC_000006.12:108140110:AAATAAA:AAATAAATAAA
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAATAAA=0./0 (ALFA)
AAAT=0.00006/3 (GnomAD)
HGVS:: NC_000006.12:g.108140114_108140117dup, NC_000006.11:g.108461318_108461321dup

Select item 149117724415.

rs1491177244 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 6:108140147 (GRCh38)
6:108461351 (GRCh37)
Canonical SPDI:: NC_000006.12:108140144:AAAA:AA,NC_000006.12:108140144:AAAA:AAA
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108140147_108140148del, NC_000006.12:g.108140148del, NC_000006.11:g.108461351_108461352del, NC_000006.11:g.108461352del

Select item 149116991716.

rs1491169917 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:108142323 (GRCh38)
6:108463527 (GRCh37)
Canonical SPDI:: NC_000006.12:108142322:GA:
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.108142323_108142324del, NC_000006.11:g.108463527_108463528del

Select item 149103263217.

rs1491032632 has merged into rs34030464 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:108153869 (GRCh38)
6:108475073 (GRCh37)
Canonical SPDI:: NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:108153857:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2009/894 (1000Genomes)
HGVS:: NC_000006.12:g.108153869_108153871del, NC_000006.12:g.108153870_108153871del, NC_000006.12:g.108153871del, NC_000006.12:g.108153871dup, NC_000006.12:g.108153870_108153871dup, NC_000006.12:g.108153869_108153871dup, NC_000006.12:g.108153863_108153871dup, NC_000006.11:g.108475073_108475075del, NC_000006.11:g.108475074_108475075del, NC_000006.11:g.108475075del, NC_000006.11:g.108475075dup, NC_000006.11:g.108475074_108475075dup, NC_000006.11:g.108475073_108475075dup, NC_000006.11:g.108475067_108475075dup

Select item 149094928218.

rs1490949282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108147632 (GRCh38)
6:108468836 (GRCh37)
Canonical SPDI:: NC_000006.12:108147631:G:A
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.108147632G>A, NC_000006.11:g.108468836G>A

Select item 149091297919.

rs1490912979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108146727 (GRCh38)
6:108467931 (GRCh37)
Canonical SPDI:: NC_000006.12:108146726:T:C
Gene:: OSTM1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.108146727T>C, NC_000006.11:g.108467931T>C

Select item 149087779020.

rs1490877790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108123408 (GRCh38)
6:108444612 (GRCh37)
Canonical SPDI:: NC_000006.12:108123407:C:T
Gene:: OSTM1-AS1 (Varview), LOC124901368 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108123408C>T, NC_000006.11:g.108444612C>T

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