SNP Links for Nucleotide (Select 160358379) - SNP

Links from Nucleotide

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Select item 14915813731.

rs1491581373 has merged into rs56408395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:49447653 (GRCh38)
6:49415366 (GRCh37)
Canonical SPDI:: NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:49447638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0.00167/30 (ALFA)
A=0.3/12 (GENOME_DK)
A=0.33238/1281 (ALSPAC)
A=0.34951/1296 (TWINSUK)
HGVS:: NC_000006.12:g.49447653_49447654del, NC_000006.12:g.49447654del, NC_000006.12:g.49447654dup, NC_000006.12:g.49447653_49447654dup, NC_000006.12:g.49447652_49447654dup, NC_000006.12:g.49447651_49447654dup, NC_000006.12:g.49447650_49447654dup, NC_000006.12:g.49447646_49447654dup, NC_000006.11:g.49415366_49415367del, NC_000006.11:g.49415367del, NC_000006.11:g.49415367dup, NC_000006.11:g.49415366_49415367dup, NC_000006.11:g.49415365_49415367dup, NC_000006.11:g.49415364_49415367dup, NC_000006.11:g.49415363_49415367dup, NC_000006.11:g.49415359_49415367dup, NG_007100.1:g.20500_20501del, NG_007100.1:g.20501del, NG_007100.1:g.20501dup, NG_007100.1:g.20500_20501dup, NG_007100.1:g.20499_20501dup, NG_007100.1:g.20498_20501dup, NG_007100.1:g.20497_20501dup, NG_007100.1:g.20493_20501dup

Select item 14914660572.

rs1491466057 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:49430248 (GRCh38)
6:49397962 (GRCh37)
Canonical SPDI:: NC_000006.12:49430248::C
Gene:: MMUT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000035/1 (TOMMO)
C=0.000047/5 (GnomAD)
HGVS:: NC_000006.12:g.49430248_49430249insC, NC_000006.11:g.49397961_49397962insC, NG_007100.1:g.37891_37892insG

Select item 14912813143.

rs1491281314 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:49430249 (GRCh38)
6:49397962 (GRCh37)
Canonical SPDI:: NC_000006.12:49430247:AAA:A
Gene:: MMUT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00048/47 (GnomAD)
HGVS:: NC_000006.12:g.49430249_49430250del, NC_000006.11:g.49397962_49397963del, NG_007100.1:g.37891_37892del

Select item 14909204894.

rs1490920489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49461227 (GRCh38)
6:49428940 (GRCh37)
Canonical SPDI:: NC_000006.12:49461226:G:A
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.49461227G>A, NC_000006.11:g.49428940G>A, NG_007100.1:g.6913C>T

Select item 14908410475.

rs1490841047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49431533 (GRCh38)
6:49399246 (GRCh37)
Canonical SPDI:: NC_000006.12:49431532:T:C
Gene:: MMUT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49431533T>C, NC_000006.11:g.49399246T>C, NG_007100.1:g.36607A>G, NM_000255.4:c.*195A>G, NM_000255.3:c.*195A>G, XM_005249143.4:c.*195A>G, XM_005249143.3:c.*195A>G, XM_005249143.2:c.*195A>G, XM_005249143.1:c.*195A>G

Select item 14908152216.

rs1490815221 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:49443282 (GRCh38)
6:49410995 (GRCh37)
Canonical SPDI:: NC_000006.12:49443281:G:
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49443282del, NC_000006.11:g.49410995del, NG_007100.1:g.24858del

Select item 14906531297.

rs1490653129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:49430153 (GRCh38)
6:49397866 (GRCh37)
Canonical SPDI:: NC_000006.12:49430152:C:G
Gene:: MMUT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49430153C>G, NC_000006.11:g.49397866C>G, NG_007100.1:g.37987G>C

Select item 14906523738.

rs1490652373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49451550 (GRCh38)
6:49419263 (GRCh37)
Canonical SPDI:: NC_000006.12:49451549:A:G
Gene:: MMUT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.49451550A>G, NC_000006.11:g.49419263A>G, NG_007100.1:g.16590T>C, NM_000255.4:c.1248T>C, NM_000255.3:c.1248T>C, XM_005249143.4:c.1248T>C, XM_005249143.3:c.1248T>C, XM_005249143.2:c.1248T>C, XM_005249143.1:c.1248T>C

Select item 14906355559.

rs1490635555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:49452489 (GRCh38)
6:49420202 (GRCh37)
Canonical SPDI:: NC_000006.12:49452488:C:A,NC_000006.12:49452488:C:T
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49452489C>A, NC_000006.12:g.49452489C>T, NC_000006.11:g.49420202C>A, NC_000006.11:g.49420202C>T, NG_007100.1:g.15651G>T, NG_007100.1:g.15651G>A

Select item 149055700910.

rs1490557009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49435654 (GRCh38)
6:49403367 (GRCh37)
Canonical SPDI:: NC_000006.12:49435653:T:G
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.49435654T>G, NC_000006.11:g.49403367T>G, NG_007100.1:g.32486A>C

Select item 149043079211.

rs1490430792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49460613 (GRCh38)
6:49428326 (GRCh37)
Canonical SPDI:: NC_000006.12:49460612:C:A
Gene:: MMUT (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)
HGVS:: NC_000006.12:g.49460613C>A, NC_000006.11:g.49428326C>A, NG_007100.1:g.7527G>T

Select item 149033847912.

rs1490338479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49454239 (GRCh38)
6:49421952 (GRCh37)
Canonical SPDI:: NC_000006.12:49454238:G:A,NC_000006.12:49454238:G:C
Gene:: MMUT (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.49454239G>A, NC_000006.12:g.49454239G>C, NC_000006.11:g.49421952G>A, NC_000006.11:g.49421952G>C, NG_007100.1:g.13901C>T, NG_007100.1:g.13901C>G

Select item 149029981513.

rs1490299815 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:49437616 (GRCh38)
6:49405329 (GRCh37)
Canonical SPDI:: NC_000006.12:49437615:GG:G
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49437617del, NC_000006.11:g.49405330del, NG_007100.1:g.30524del

Select item 149015304314.

rs1490153043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49449273 (GRCh38)
6:49416986 (GRCh37)
Canonical SPDI:: NC_000006.12:49449272:T:C
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49449273T>C, NC_000006.11:g.49416986T>C, NG_007100.1:g.18867A>G

Select item 149014270215.

rs1490142702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:49446978 (GRCh38)
6:49414691 (GRCh37)
Canonical SPDI:: NC_000006.12:49446977:G:A,NC_000006.12:49446977:G:T
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000006.12:g.49446978G>A, NC_000006.12:g.49446978G>T, NC_000006.11:g.49414691G>A, NC_000006.11:g.49414691G>T, NG_007100.1:g.21162C>T, NG_007100.1:g.21162C>A

Select item 149003560916.

rs1490035609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49460518 (GRCh38)
6:49428231 (GRCh37)
Canonical SPDI:: NC_000006.12:49460517:G:A,NC_000006.12:49460517:G:C
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49460518G>A, NC_000006.12:g.49460518G>C, NC_000006.11:g.49428231G>A, NC_000006.11:g.49428231G>C, NG_007100.1:g.7622C>T, NG_007100.1:g.7622C>G

Select item 148967079317.

rs1489670793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49435044 (GRCh38)
6:49402757 (GRCh37)
Canonical SPDI:: NC_000006.12:49435043:C:A
Gene:: MMUT (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)
HGVS:: NC_000006.12:g.49435044C>A, NC_000006.11:g.49402757C>A, NG_007100.1:g.33096G>T

Select item 148956892518.

rs1489568925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:49433797 (GRCh38)
6:49401510 (GRCh37)
Canonical SPDI:: NC_000006.12:49433796:C:A
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.49433797C>A, NC_000006.11:g.49401510C>A, NG_007100.1:g.34343G>T

Select item 148948408819.

rs1489484088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49466021 (GRCh38)
6:49433734 (GRCh37)
Canonical SPDI:: NC_000006.12:49466020:T:G
Gene:: CENPQ (Varview)
Functional Consequence:: intron_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_000006.12:g.49466021T>G, NC_000006.11:g.49433734T>G, NG_007100.1:g.2119A>C

Select item 148945856620.

rs1489458566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49458966 (GRCh38)
6:49426679 (GRCh37)
Canonical SPDI:: NC_000006.12:49458965:T:C
Gene:: MMUT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49458966T>C, NC_000006.11:g.49426679T>C, NG_007100.1:g.9174A>G

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