SNP Links for Gene (Select 9107) - SNP

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Select item 14915770991.

rs1491577099 has merged into rs57589187 [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,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:25278722 (GRCh38)
13:25852860 (GRCh37)
Canonical SPDI:: NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:25278709:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTMR6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000013.11:g.25278722_25278735del, NC_000013.11:g.25278723_25278735del, NC_000013.11:g.25278724_25278735del, NC_000013.11:g.25278725_25278735del, NC_000013.11:g.25278726_25278735del, NC_000013.11:g.25278727_25278735del, NC_000013.11:g.25278728_25278735del, NC_000013.11:g.25278729_25278735del, NC_000013.11:g.25278730_25278735del, NC_000013.11:g.25278731_25278735del, NC_000013.11:g.25278732_25278735del, NC_000013.11:g.25278733_25278735del, NC_000013.11:g.25278734_25278735del, NC_000013.11:g.25278735del, NC_000013.11:g.25278735dup, NC_000013.11:g.25278734_25278735dup, NC_000013.11:g.25278733_25278735dup, NC_000013.11:g.25278732_25278735dup, NC_000013.11:g.25278731_25278735dup, NC_000013.11:g.25278730_25278735dup, NC_000013.10:g.25852860_25852873del, NC_000013.10:g.25852861_25852873del, NC_000013.10:g.25852862_25852873del, NC_000013.10:g.25852863_25852873del, NC_000013.10:g.25852864_25852873del, NC_000013.10:g.25852865_25852873del, NC_000013.10:g.25852866_25852873del, NC_000013.10:g.25852867_25852873del, NC_000013.10:g.25852868_25852873del, NC_000013.10:g.25852869_25852873del, NC_000013.10:g.25852870_25852873del, NC_000013.10:g.25852871_25852873del, NC_000013.10:g.25852872_25852873del, NC_000013.10:g.25852873del, NC_000013.10:g.25852873dup, NC_000013.10:g.25852872_25852873dup, NC_000013.10:g.25852871_25852873dup, NC_000013.10:g.25852870_25852873dup, NC_000013.10:g.25852869_25852873dup, NC_000013.10:g.25852868_25852873dup

Select item 14914835132.

rs1491483513 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAAA [Show Flanks]
Chromosome:: 13:25288866 (GRCh38)
13:25863005 (GRCh37)
Canonical SPDI:: NC_000013.11:25288866:AAAA:AAAATAAAA
Gene:: MTMR6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAATAAAA=0.00135/16 (ALFA)
AAAAT=0.03725/130 (GnomAD)
HGVS:: NC_000013.11:g.25288867_25288870A[4]TAAAA[1], NC_000013.10:g.25863005_25863008A[4]TAAAA[1]

Select item 14913791463.

rs1491379146 [Homo sapiens]

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

Select item 14913733164.

rs1491373316 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:25260171 (GRCh38)
13:25834309 (GRCh37)
Canonical SPDI:: NC_000013.11:25260169:TCT:T
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25260171_25260172del, NC_000013.10:g.25834309_25834310del

Select item 14913565865.

rs1491356586 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:25285402 (GRCh38)
13:25859540 (GRCh37)
Canonical SPDI:: NC_000013.11:25285401:CA:
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000048/6 (GnomAD)
HGVS:: NC_000013.11:g.25285402_25285403del, NC_000013.10:g.25859540_25859541del

Select item 14913097576.

rs1491309757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:25260170 (GRCh38)
13:25834309 (GRCh37)
Canonical SPDI:: NC_000013.11:25260170:C:CC
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25260171dup, NC_000013.10:g.25834309dup

Select item 14912060107.

rs1491206010 has merged into rs1350534484 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 13:25285403 (GRCh38)
13:25859541 (GRCh37)
Canonical SPDI:: NC_000013.11:25285402:AA:A,NC_000013.11:25285402:AA:AAA
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.25285404del, NC_000013.11:g.25285404dup, NC_000013.10:g.25859542del, NC_000013.10:g.25859542dup

Select item 14911997488.

rs1491199748 has merged into rs1269684944 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:25288873 (GRCh38)
13:25863011 (GRCh37)
Canonical SPDI:: NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:25288865:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: MTMR6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00237/23 (TOMMO)
HGVS:: NC_000013.11:g.25288873_25288878del, NC_000013.11:g.25288874_25288878del, NC_000013.11:g.25288875_25288878del, NC_000013.11:g.25288876_25288878del, NC_000013.11:g.25288877_25288878del, NC_000013.11:g.25288878del, NC_000013.11:g.25288878dup, NC_000013.11:g.25288877_25288878dup, NC_000013.11:g.25288876_25288878dup, NC_000013.11:g.25288875_25288878dup, NC_000013.11:g.25288874_25288878dup, NC_000013.11:g.25288873_25288878dup, NC_000013.10:g.25863011_25863016del, NC_000013.10:g.25863012_25863016del, NC_000013.10:g.25863013_25863016del, NC_000013.10:g.25863014_25863016del, NC_000013.10:g.25863015_25863016del, NC_000013.10:g.25863016del, NC_000013.10:g.25863016dup, NC_000013.10:g.25863015_25863016dup, NC_000013.10:g.25863014_25863016dup, NC_000013.10:g.25863013_25863016dup, NC_000013.10:g.25863012_25863016dup, NC_000013.10:g.25863011_25863016dup

Select item 14911573359.

rs1491157335 has merged into rs1555250640 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 13:25274943 (GRCh38)
13:25849081 (GRCh37)
Canonical SPDI:: NC_000013.11:25274939:ACACACACACACACACACACA:ACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:25274939:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000426/12 (TOMMO)
-=0.008753/16 (Korea1K)
HGVS:: NC_000013.11:g.25274941CA[1], NC_000013.11:g.25274941CA[7], NC_000013.11:g.25274941CA[8], NC_000013.11:g.25274941CA[9], NC_000013.11:g.25274941CA[11], NC_000013.11:g.25274941CA[12], NC_000013.11:g.25274941CA[13], NC_000013.11:g.25274941CA[14], NC_000013.11:g.25274941CA[15], NC_000013.11:g.25274941CA[20], NC_000013.11:g.25274941CA[24], NC_000013.10:g.25849079CA[1], NC_000013.10:g.25849079CA[7], NC_000013.10:g.25849079CA[8], NC_000013.10:g.25849079CA[9], NC_000013.10:g.25849079CA[11], NC_000013.10:g.25849079CA[12], NC_000013.10:g.25849079CA[13], NC_000013.10:g.25849079CA[14], NC_000013.10:g.25849079CA[15], NC_000013.10:g.25849079CA[20], NC_000013.10:g.25849079CA[24]

Select item 149112481710.

rs1491124817 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:25278709 (GRCh38)
13:25852847 (GRCh37)
Canonical SPDI:: NC_000013.11:25278708:CA:
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00261/31 (ALFA)
-=0.00059/1 (Korea1K)
-=0.00105/29 (TOMMO)
HGVS:: NC_000013.11:g.25278709_25278710del, NC_000013.10:g.25852847_25852848del

Select item 149110602011.

rs1491106020 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAAG,AAAAAAAAAAAAAAG,AAAAAAAAAAAAAG,AAAAAAAAAAAAG,AAAAAAAAAAAG,AAAAAAAAAAG,AAAAAAAAAG,AAAAAAAAG,AAAAAAAG,AAAAAAG,AAAAAG,AAAAG,AAAG,AAG,AG [Show Flanks]
Chromosome:: 13:25264775 (GRCh38)
13:25838914 (GRCh37)
Canonical SPDI:: NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAAG,NC_000013.11:25264775::AAAAAAAAG,NC_000013.11:25264775::AAAAAAAG,NC_000013.11:25264775::AAAAAAG,NC_000013.11:25264775::AAAAAG,NC_000013.11:25264775::AAAAG,NC_000013.11:25264775::AAAG,NC_000013.11:25264775::AAG,NC_000013.11:25264775::AG
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAG=0./0 (ALFA)
HGVS:: NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAAG, NC_000013.11:g.25264775_25264776insAAAAAG, NC_000013.11:g.25264775_25264776insAAAAG, NC_000013.11:g.25264775_25264776insAAAG, NC_000013.11:g.25264775_25264776insAAG, NC_000013.11:g.25264775_25264776insAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAAG, NC_000013.10:g.25838913_25838914insAAAAAG, NC_000013.10:g.25838913_25838914insAAAAG, NC_000013.10:g.25838913_25838914insAAAG, NC_000013.10:g.25838913_25838914insAAG, NC_000013.10:g.25838913_25838914insAG

Select item 149109169412.

rs1491091694 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:25286652 (GRCh38)
13:25860791 (GRCh37)
Canonical SPDI:: NC_000013.11:25286652::G
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25286652_25286653insG, NC_000013.10:g.25860790_25860791insG

Select item 149108988013.

rs1491089880 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATG [Show Flanks]
Chromosome:: 13:25288922 (GRCh38)
13:25863061 (GRCh37)
Canonical SPDI:: NC_000013.11:25288922::TATATATG
Gene:: MTMR6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: TATATATG=0.00019/5 (GnomAD)
HGVS:: NC_000013.11:g.25288922_25288923insTATATATG, NC_000013.10:g.25863060_25863061insTATATATG

Select item 149105515114.

rs1491055151 has merged into rs5802321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 13:25251014 (GRCh38)
13:25825152 (GRCh37)
Canonical SPDI:: NC_000013.11:25251009:TTTTTTTTTT:TTTT,NC_000013.11:25251009:TTTTTTTTTT:TTTTTTTT,NC_000013.11:25251009:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:25251009:TTTTTTTTTT:TTTTTTTTTTT
Gene:: MTMR6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (TWINSUK)
T=0.00004/1 (TOMMO)
T=0.00401/4 (GoNL)
T=0.08052/403 (1000Genomes)
HGVS:: NC_000013.11:g.25251014_25251019del, NC_000013.11:g.25251018_25251019del, NC_000013.11:g.25251019del, NC_000013.11:g.25251019dup, NC_000013.10:g.25825152_25825157del, NC_000013.10:g.25825156_25825157del, NC_000013.10:g.25825157del, NC_000013.10:g.25825157dup

Select item 149095517015.

rs1490955170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:25266206 (GRCh38)
13:25840344 (GRCh37)
Canonical SPDI:: NC_000013.11:25266205:C:T
Gene:: MTMR6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_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_000013.11:g.25266206C>T, NC_000013.10:g.25840344C>T, NM_004685.5:c.385G>A, NM_004685.4:c.385G>A, NM_004685.3:c.385G>A, XM_011535307.2:c.385G>A, XM_011535307.1:c.385G>A, NM_001385230.1:c.385G>A, NM_001385231.1:c.331G>A, NM_001385232.1:c.385G>A, NR_169592.1:n.626G>A, NM_001385236.1:c.385G>A, NM_001385233.1:c.385G>A, NM_001385234.1:c.385G>A, NM_001385235.1:c.385G>A, NM_001385237.1:c.385G>A, NM_001385238.1:c.-24G>A, XM_047430766.1:c.385G>A, NP_004676.3:p.Asp129Asn, XP_011533609.1:p.Asp129Asn, NP_001372159.1:p.Asp129Asn, NP_001372160.1:p.Asp111Asn, NP_001372161.1:p.Asp129Asn, NP_001372165.1:p.Asp129Asn, NP_001372162.1:p.Asp129Asn, NP_001372163.1:p.Asp129Asn, NP_001372164.1:p.Asp129Asn, NP_001372166.1:p.Asp129Asn, XP_047286722.1:p.Asp129Asn

Select item 149090288916.

rs1490902889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:25265154 (GRCh38)
13:25839292 (GRCh37)
Canonical SPDI:: NC_000013.11:25265153:T:A
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000083/22 (TOPMED)
HGVS:: NC_000013.11:g.25265154T>A, NC_000013.10:g.25839292T>A

Select item 149078812217.

rs1490788122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:25289498 (GRCh38)
13:25863636 (GRCh37)
Canonical SPDI:: NC_000013.11:25289497:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.25289498T>G, NC_000013.10:g.25863636T>G

Select item 149078402518.

rs1490784025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:25265281 (GRCh38)
13:25839419 (GRCh37)
Canonical SPDI:: NC_000013.11:25265280:A:T
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000013.11:g.25265281A>T, NC_000013.10:g.25839419A>T

Select item 149069158319.

rs1490691583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:25273636 (GRCh38)
13:25847774 (GRCh37)
Canonical SPDI:: NC_000013.11:25273635:C:T
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.25273636C>T, NC_000013.10:g.25847774C>T

Select item 149061168920.

rs1490611689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:25266433 (GRCh38)
13:25840571 (GRCh37)
Canonical SPDI:: NC_000013.11:25266432:T:C
Gene:: MTMR6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.25266433T>C, NC_000013.10:g.25840571T>C

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