SNP Links for Gene (Select 57154) - SNP

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Select item 14915504081.

rs1491550408 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:99100108 (GRCh38)
7:98697731 (GRCh37)
Canonical SPDI:: NC_000007.14:99100107:TA:
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.99100108_99100109del, NC_000007.13:g.98697731_98697732del, NW_017852929.1:g.7737_7738del

Select item 14915210652.

rs1491521065 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:99122340 (GRCh38)
7:98719963 (GRCh37)
Canonical SPDI:: NC_000007.14:99122338:AGA:A
Gene:: SMURF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.99122340_99122341del, NC_000007.13:g.98719963_98719964del, NW_017852929.1:g.29969_29970del, XR_002959088.2:n.21363_21364del

Select item 14914871803.

rs1491487180 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:99118707 (GRCh38)
7:98716331 (GRCh37)
Canonical SPDI:: NC_000007.14:99118707::C
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.99118707_99118708insC, NC_000007.13:g.98716330_98716331insC, NW_017852929.1:g.26336_26337insC

Select item 14914788194.

rs1491478819 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:99110031 (GRCh38)
7:98707655 (GRCh37)
Canonical SPDI:: NC_000007.14:99110031:T:TT
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000192/27 (GnomAD)
T=0.000212/56 (TOPMED)
T=0.000625/4 (1000Genomes)
HGVS:: NC_000007.14:g.99110032dup, NC_000007.13:g.98707655dup, NW_017852929.1:g.17661dup

Select item 14914705085.

rs1491470508 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:99060378 (GRCh38)
7:98658001 (GRCh37)
Canonical SPDI:: NC_000007.14:99060377:CA:
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.99060378_99060379del, NC_000007.13:g.98658001_98658002del

Select item 14914632546.

rs1491463254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAT,ATATATATATATATAAGAT,ATATATATATATATATAAGAT,ATATATATATATATATATAAGAT,ATATATATATATATATATATAAGAT,ATATATATATATATATATATATAAGAT,ATATATATATATATATATATATATAAGAT,ATATATATATATATATATATATATATAAGAT,ATATATATATATATATATATATATGAT,ATATATATATATATATATATATGAT [Show Flanks]
Chromosome:: 7:99063238 (GRCh38)
7:98660862 (GRCh37)
Canonical SPDI:: NC_000007.14:99063238:AT:ATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATATATATAAGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATATATGAT,NC_000007.14:99063238:AT:ATATATATATATATATATATATATGAT
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAGAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.99063240_99063241insAAGAT, NC_000007.14:g.99063239_99063240AT[8]AAGAT[1], NC_000007.14:g.99063239_99063240AT[9]AAGAT[1], NC_000007.14:g.99063239_99063240AT[10]AAGAT[1], NC_000007.14:g.99063239_99063240AT[11]AAGAT[1], NC_000007.14:g.99063239_99063240AT[12]AAGAT[1], NC_000007.14:g.99063239_99063240AT[13]AAGAT[1], NC_000007.14:g.99063239_99063240AT[14]AAGAT[1], NC_000007.14:g.99063239_99063240AT[13]GAT[1], NC_000007.14:g.99063239_99063240AT[12]GAT[1], NC_000007.13:g.98660863_98660864insAAGAT, NC_000007.13:g.98660862_98660863AT[8]AAGAT[1], NC_000007.13:g.98660862_98660863AT[9]AAGAT[1], NC_000007.13:g.98660862_98660863AT[10]AAGAT[1], NC_000007.13:g.98660862_98660863AT[11]AAGAT[1], NC_000007.13:g.98660862_98660863AT[12]AAGAT[1], NC_000007.13:g.98660862_98660863AT[13]AAGAT[1], NC_000007.13:g.98660862_98660863AT[14]AAGAT[1], NC_000007.13:g.98660862_98660863AT[13]GAT[1], NC_000007.13:g.98660862_98660863AT[12]GAT[1]

Select item 14914629467.

rs1491462946 has merged into rs10559622 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:99100121 (GRCh38)
7:98697744 (GRCh37)
Canonical SPDI:: NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99100108:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0707/354 (1000Genomes)
HGVS:: NC_000007.14:g.99100121_99100126del, NC_000007.14:g.99100122_99100126del, NC_000007.14:g.99100123_99100126del, NC_000007.14:g.99100124_99100126del, NC_000007.14:g.99100125_99100126del, NC_000007.14:g.99100126del, NC_000007.14:g.99100126dup, NC_000007.14:g.99100123_99100126dup, NC_000007.14:g.99100113_99100126dup, NC_000007.13:g.98697744_98697749del, NC_000007.13:g.98697745_98697749del, NC_000007.13:g.98697746_98697749del, NC_000007.13:g.98697747_98697749del, NC_000007.13:g.98697748_98697749del, NC_000007.13:g.98697749del, NC_000007.13:g.98697749dup, NC_000007.13:g.98697746_98697749dup, NC_000007.13:g.98697736_98697749dup, NW_017852929.1:g.7750_7755del, NW_017852929.1:g.7751_7755del, NW_017852929.1:g.7752_7755del, NW_017852929.1:g.7753_7755del, NW_017852929.1:g.7754_7755del, NW_017852929.1:g.7755del, NW_017852929.1:g.7755dup, NW_017852929.1:g.7752_7755dup, NW_017852929.1:g.7742_7755dup

Select item 14914382268.

rs1491438226 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC,GCACGTGTGCCC,GTGTGC [Show Flanks]
Chromosome:: 7:99076840 (GRCh38)
7:98674464 (GRCh37)
Canonical SPDI:: NC_000007.14:99076840::GC,NC_000007.14:99076840::GCACGTGTGCCC,NC_000007.14:99076840::GTGTGC
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCACGTGTGCCC=0./0 (ALFA)
GC=0.00003/2 (GnomAD)
HGVS:: NC_000007.14:g.99076840_99076841insGC, NC_000007.14:g.99076840_99076841insGCACGTGTGCCC, NC_000007.14:g.99076840_99076841insGTGTGC, NC_000007.13:g.98674463_98674464insGC, NC_000007.13:g.98674463_98674464insGCACGTGTGCCC, NC_000007.13:g.98674463_98674464insGTGTGC

Select item 14913867389.

rs1491386738 has merged into rs11340949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:99060384 (GRCh38)
7:98658007 (GRCh37)
Canonical SPDI:: NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99060378:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.364816/1827 (1000Genomes)
HGVS:: NC_000007.14:g.99060384_99060397del, NC_000007.14:g.99060385_99060397del, NC_000007.14:g.99060386_99060397del, NC_000007.14:g.99060387_99060397del, NC_000007.14:g.99060388_99060397del, NC_000007.14:g.99060389_99060397del, NC_000007.14:g.99060390_99060397del, NC_000007.14:g.99060391_99060397del, NC_000007.14:g.99060392_99060397del, NC_000007.14:g.99060394_99060397del, NC_000007.14:g.99060395_99060397del, NC_000007.14:g.99060396_99060397del, NC_000007.14:g.99060397del, NC_000007.14:g.99060397dup, NC_000007.14:g.99060396_99060397dup, NC_000007.14:g.99060395_99060397dup, NC_000007.14:g.99060394_99060397dup, NC_000007.14:g.99060393_99060397dup, NC_000007.14:g.99060392_99060397dup, NC_000007.14:g.99060391_99060397dup, NC_000007.14:g.99060390_99060397dup, NC_000007.14:g.99060389_99060397dup, NC_000007.14:g.99060388_99060397dup, NC_000007.14:g.99060387_99060397dup, NC_000007.14:g.99060386_99060397dup, NC_000007.14:g.99060384_99060397dup, NC_000007.13:g.98658007_98658020del, NC_000007.13:g.98658008_98658020del, NC_000007.13:g.98658009_98658020del, NC_000007.13:g.98658010_98658020del, NC_000007.13:g.98658011_98658020del, NC_000007.13:g.98658012_98658020del, NC_000007.13:g.98658013_98658020del, NC_000007.13:g.98658014_98658020del, NC_000007.13:g.98658015_98658020del, NC_000007.13:g.98658017_98658020del, NC_000007.13:g.98658018_98658020del, NC_000007.13:g.98658019_98658020del, NC_000007.13:g.98658020del, NC_000007.13:g.98658020dup, NC_000007.13:g.98658019_98658020dup, NC_000007.13:g.98658018_98658020dup, NC_000007.13:g.98658017_98658020dup, NC_000007.13:g.98658016_98658020dup, NC_000007.13:g.98658015_98658020dup, NC_000007.13:g.98658014_98658020dup, NC_000007.13:g.98658013_98658020dup, NC_000007.13:g.98658012_98658020dup, NC_000007.13:g.98658011_98658020dup, NC_000007.13:g.98658010_98658020dup, NC_000007.13:g.98658009_98658020dup, NC_000007.13:g.98658007_98658020dup

Select item 149138350810.

rs1491383508 has merged into rs200219353 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:99057598 (GRCh38)
7:98655221 (GRCh37)
Canonical SPDI:: NC_000007.14:99057591:TTTTTTTT:TTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99057591:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.01268/7 (NorthernSweden)
T=0.01952/125 (1000Genomes)
HGVS:: NC_000007.14:g.99057598_99057599del, NC_000007.14:g.99057599del, NC_000007.14:g.99057599dup, NC_000007.14:g.99057598_99057599dup, NC_000007.14:g.99057597_99057599dup, NC_000007.14:g.99057596_99057599dup, NC_000007.14:g.99057595_99057599dup, NC_000007.14:g.99057593_99057599dup, NC_000007.14:g.99057599_99057600insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.99057599_99057600insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98655221_98655222del, NC_000007.13:g.98655222del, NC_000007.13:g.98655222dup, NC_000007.13:g.98655221_98655222dup, NC_000007.13:g.98655220_98655222dup, NC_000007.13:g.98655219_98655222dup, NC_000007.13:g.98655218_98655222dup, NC_000007.13:g.98655216_98655222dup, NC_000007.13:g.98655222_98655223insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98655222_98655223insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149138239311.

rs1491382393 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:99095075 (GRCh38)
7:98692698 (GRCh37)
Canonical SPDI:: NC_000007.14:99095072:TTTT:TT
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99095075_99095076del, NC_000007.13:g.98692698_98692699del, NW_017852929.1:g.2704_2705del

Select item 149135887612.

rs1491358876 has merged into rs34359173 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:99145650 (GRCh38)
7:98743273 (GRCh37)
Canonical SPDI:: NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:99145634:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SMURF1 (Varview), KPNA7 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.1105/139 (1000Genomes)
HGVS:: NC_000007.14:g.99145636GT[7], NC_000007.14:g.99145636GT[8], NC_000007.14:g.99145636GT[9], NC_000007.14:g.99145636GT[10], NC_000007.14:g.99145636GT[11], NC_000007.14:g.99145636GT[12], NC_000007.14:g.99145636GT[14], NC_000007.14:g.99145636GT[15], NC_000007.14:g.99145636GT[16], NC_000007.14:g.99145636GT[17], NC_000007.14:g.99145636GT[18], NC_000007.14:g.99145636GT[19], NC_000007.14:g.99145636GT[20], NC_000007.14:g.99145636GT[21], NC_000007.14:g.99145636GT[22], NC_000007.13:g.98743259GT[7], NC_000007.13:g.98743259GT[8], NC_000007.13:g.98743259GT[9], NC_000007.13:g.98743259GT[10], NC_000007.13:g.98743259GT[11], NC_000007.13:g.98743259GT[12], NC_000007.13:g.98743259GT[14], NC_000007.13:g.98743259GT[15], NC_000007.13:g.98743259GT[16], NC_000007.13:g.98743259GT[17], NC_000007.13:g.98743259GT[18], NC_000007.13:g.98743259GT[19], NC_000007.13:g.98743259GT[20], NC_000007.13:g.98743259GT[21], NC_000007.13:g.98743259GT[22], NG_051213.1:g.78758CA[7], NG_051213.1:g.78758CA[8], NG_051213.1:g.78758CA[9], NG_051213.1:g.78758CA[10], NG_051213.1:g.78758CA[11], NG_051213.1:g.78758CA[12], NG_051213.1:g.78758CA[14], NG_051213.1:g.78758CA[15], NG_051213.1:g.78758CA[16], NG_051213.1:g.78758CA[17], NG_051213.1:g.78758CA[18], NG_051213.1:g.78758CA[19], NG_051213.1:g.78758CA[20], NG_051213.1:g.78758CA[21], NG_051213.1:g.78758CA[22], NW_017852929.1:g.53265GT[7], NW_017852929.1:g.53265GT[8], NW_017852929.1:g.53265GT[9], NW_017852929.1:g.53265GT[10], NW_017852929.1:g.53265GT[11], NW_017852929.1:g.53265GT[12], NW_017852929.1:g.53265GT[14], NW_017852929.1:g.53265GT[15], NW_017852929.1:g.53265GT[16], NW_017852929.1:g.53265GT[17], NW_017852929.1:g.53265GT[18], NW_017852929.1:g.53265GT[19], NW_017852929.1:g.53265GT[20], NW_017852929.1:g.53265GT[21], NW_017852929.1:g.53265GT[22]

Select item 149134793213.

rs1491347932 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:99122339 (GRCh38)
7:98719963 (GRCh37)
Canonical SPDI:: NC_000007.14:99122339:G:GG
Gene:: SMURF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99122340dup, NC_000007.13:g.98719963dup, NW_017852929.1:g.29969dup, XR_002959088.2:n.21363dup

Select item 149130431214.

rs1491304312 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTA [Show Flanks]
Chromosome:: 7:99095073 (GRCh38)
7:98692697 (GRCh37)
Canonical SPDI:: NC_000007.14:99095073:TTTA:TTTACTTTA
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTACTTTA=0./0 (ALFA)
TTTAC=0.000007/1 (GnomAD)
TTTAC=0.000008/2 (TOPMED)
TTTAC=0.000354/6 (TOMMO)
HGVS:: NC_000007.14:g.99095077_99095078insCTTTA, NC_000007.13:g.98692700_98692701insCTTTA, NW_017852929.1:g.2706_2707insCTTTA

Select item 149128313415.

rs1491283134 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:99118708 (GRCh38)
7:98716331 (GRCh37)
Canonical SPDI:: NC_000007.14:99118706:AGA:A
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.99118708_99118709del, NC_000007.13:g.98716331_98716332del, NW_017852929.1:g.26337_26338del

Select item 149122462816.

rs1491224628 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:99140281 (GRCh38)
7:98737904 (GRCh37)
Canonical SPDI:: NC_000007.14:99140280:CT:
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001855/22 (ALFA)
-=0.003851/393 (GnomAD)
HGVS:: NC_000007.14:g.99140281_99140282del, NC_000007.13:g.98737904_98737905del, NW_017852929.1:g.47910_47911del, XR_002959088.2:n.3421_3422del

Select item 149121165117.

rs1491211651 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:99113837 (GRCh38)
7:98711460 (GRCh37)
Canonical SPDI:: NC_000007.14:99113836:TA:
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00363/43 (ALFA)
HGVS:: NC_000007.14:g.99113837_99113838del, NC_000007.13:g.98711460_98711461del, NW_017852929.1:g.21466_21467del

Select item 149118568618.

rs1491185686 has merged into rs34106810 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:99039205 (GRCh38)
7:98636828 (GRCh37)
Canonical SPDI:: NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:99039193:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.99039205_99039220del, NC_000007.14:g.99039206_99039220del, NC_000007.14:g.99039207_99039220del, NC_000007.14:g.99039208_99039220del, NC_000007.14:g.99039209_99039220del, NC_000007.14:g.99039210_99039220del, NC_000007.14:g.99039211_99039220del, NC_000007.14:g.99039212_99039220del, NC_000007.14:g.99039213_99039220del, NC_000007.14:g.99039214_99039220del, NC_000007.14:g.99039215_99039220del, NC_000007.14:g.99039216_99039220del, NC_000007.14:g.99039217_99039220del, NC_000007.14:g.99039218_99039220del, NC_000007.14:g.99039219_99039220del, NC_000007.14:g.99039220del, NC_000007.14:g.99039220dup, NC_000007.14:g.99039219_99039220dup, NC_000007.14:g.99039218_99039220dup, NC_000007.14:g.99039217_99039220dup, NC_000007.14:g.99039216_99039220dup, NC_000007.14:g.99039215_99039220dup, NC_000007.13:g.98636828_98636843del, NC_000007.13:g.98636829_98636843del, NC_000007.13:g.98636830_98636843del, NC_000007.13:g.98636831_98636843del, NC_000007.13:g.98636832_98636843del, NC_000007.13:g.98636833_98636843del, NC_000007.13:g.98636834_98636843del, NC_000007.13:g.98636835_98636843del, NC_000007.13:g.98636836_98636843del, NC_000007.13:g.98636837_98636843del, NC_000007.13:g.98636838_98636843del, NC_000007.13:g.98636839_98636843del, NC_000007.13:g.98636840_98636843del, NC_000007.13:g.98636841_98636843del, NC_000007.13:g.98636842_98636843del, NC_000007.13:g.98636843del, NC_000007.13:g.98636843dup, NC_000007.13:g.98636842_98636843dup, NC_000007.13:g.98636841_98636843dup, NC_000007.13:g.98636840_98636843dup, NC_000007.13:g.98636839_98636843dup, NC_000007.13:g.98636838_98636843dup

Select item 149116729419.

rs1491167294 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAAAAA,TA,TAA [Show Flanks]
Chromosome:: 7:99113837 (GRCh38)
7:98711461 (GRCh37)
Canonical SPDI:: NC_000007.14:99113837::CAAAAAA,NC_000007.14:99113837::TA,NC_000007.14:99113837::TAA
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAA=0./0 (ALFA)
CAAAAAA=0.00003/1 (GnomAD)
HGVS:: NC_000007.14:g.99113837_99113838insCAAAAAA, NC_000007.14:g.99113837_99113838insTA, NC_000007.14:g.99113837_99113838insTAA, NC_000007.13:g.98711460_98711461insCAAAAAA, NC_000007.13:g.98711460_98711461insTA, NC_000007.13:g.98711460_98711461insTAA, NW_017852929.1:g.21466_21467insCAAAAAA, NW_017852929.1:g.21466_21467insTA, NW_017852929.1:g.21466_21467insTAA

Select item 149116588820.

rs1491165888 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 7:99059876 (GRCh38)
7:98657500 (GRCh37)
Canonical SPDI:: NC_000007.14:99059876:T:TAAT
Gene:: SMURF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAT=0./0 (ALFA)
TAA=0.000004/1 (TOPMED)
TAA=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99059877_99059878insAAT, NC_000007.13:g.98657500_98657501insAAT

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