SNP Links for Gene (Select 9522) - SNP

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Select item 14915579611.

rs1491557961 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:78366920 (GRCh38)
5:77662744 (GRCh37)
Canonical SPDI:: NC_000005.10:78366919:CA:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000005.10:g.78366920_78366921del, NC_000005.9:g.77662744_77662745del

Select item 14915045622.

rs1491504562 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAG [Show Flanks]
Chromosome:: 5:78392000 (GRCh38)
5:77687825 (GRCh37)
Canonical SPDI:: NC_000005.10:78392000:GAG:GAGGGAG
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGGGAG=0./0 (ALFA)
HGVS:: NC_000005.10:g.78392003_78392004insGGAG, NC_000005.9:g.77687827_77687828insGGAG

Select item 14914237173.

rs1491423717 has merged into rs34209617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 5:78404127 (GRCh38)
5:77699951 (GRCh37)
Canonical SPDI:: NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:78404115:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1506/754 (1000Genomes)
HGVS:: NC_000005.10:g.78404127_78404133del, NC_000005.10:g.78404128_78404133del, NC_000005.10:g.78404129_78404133del, NC_000005.10:g.78404130_78404133del, NC_000005.10:g.78404131_78404133del, NC_000005.10:g.78404132_78404133del, NC_000005.10:g.78404133del, NC_000005.10:g.78404133dup, NC_000005.10:g.78404132_78404133dup, NC_000005.9:g.77699951_77699957del, NC_000005.9:g.77699952_77699957del, NC_000005.9:g.77699953_77699957del, NC_000005.9:g.77699954_77699957del, NC_000005.9:g.77699955_77699957del, NC_000005.9:g.77699956_77699957del, NC_000005.9:g.77699957del, NC_000005.9:g.77699957dup, NC_000005.9:g.77699956_77699957dup

Select item 14913674824.

rs1491367482 has merged into rs70998000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:78366932 (GRCh38)
5:77662756 (GRCh37)
Canonical SPDI:: NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.017708/4687 (TOPMED)
-=0.082771/319 (ALSPAC)
HGVS:: NC_000005.10:g.78366932_78366937del, NC_000005.10:g.78366933_78366937del, NC_000005.10:g.78366934_78366937del, NC_000005.10:g.78366935_78366937del, NC_000005.10:g.78366936_78366937del, NC_000005.10:g.78366937del, NC_000005.10:g.78366937dup, NC_000005.10:g.78366936_78366937dup, NC_000005.10:g.78366935_78366937dup, NC_000005.10:g.78366934_78366937dup, NC_000005.10:g.78366921_78366937A[20]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.77662756_77662761del, NC_000005.9:g.77662757_77662761del, NC_000005.9:g.77662758_77662761del, NC_000005.9:g.77662759_77662761del, NC_000005.9:g.77662760_77662761del, NC_000005.9:g.77662761del, NC_000005.9:g.77662761dup, NC_000005.9:g.77662760_77662761dup, NC_000005.9:g.77662759_77662761dup, NC_000005.9:g.77662758_77662761dup, NC_000005.9:g.77662745_77662761A[20]CAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913643035.

rs1491364303 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:78407640 (GRCh38)
5:77703464 (GRCh37)
Canonical SPDI:: NC_000005.10:78407639:TC:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00043/7 (ALFA)
HGVS:: NC_000005.10:g.78407640_78407641del, NC_000005.9:g.77703464_77703465del

Select item 14913266976.

rs1491326697 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:78392004 (GRCh38)
5:77687828 (GRCh37)
Canonical SPDI:: NC_000005.10:78391999:AGAGAG:AGAG
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.78392000AG[2], NC_000005.9:g.77687824AG[2]

Select item 14913150827.

rs1491315082 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:78404115 (GRCh38)
5:77699939 (GRCh37)
Canonical SPDI:: NC_000005.10:78404114:CA:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00725/86 (ALFA)
HGVS:: NC_000005.10:g.78404115_78404116del, NC_000005.9:g.77699939_77699940del

Select item 14912986228.

rs1491298622 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 5:78376098 (GRCh38)
5:77671922 (GRCh37)
Canonical SPDI:: NC_000005.10:78376097:GGGGGG:GGGGG,NC_000005.10:78376097:GGGGGG:GGGGGGG
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.78376103del, NC_000005.10:g.78376103dup, NC_000005.9:g.77671927del, NC_000005.9:g.77671927dup

Select item 14912975709.

rs1491297570 has merged into rs1431901569 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 5:78407643 (GRCh38)
5:77703467 (GRCh37)
Canonical SPDI:: NC_000005.10:78407640:CCCC:CC,NC_000005.10:78407640:CCCC:CCC,NC_000005.10:78407640:CCCC:CCCCC,NC_000005.10:78407640:CCCC:CCCCCC
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
-=0.000142/2 (TOMMO)
-=0.003275/6 (Korea1K)
HGVS:: NC_000005.10:g.78407643_78407644del, NC_000005.10:g.78407644del, NC_000005.10:g.78407644dup, NC_000005.10:g.78407643_78407644dup, NC_000005.9:g.77703467_77703468del, NC_000005.9:g.77703468del, NC_000005.9:g.77703468dup, NC_000005.9:g.77703467_77703468dup

Select item 149125452810.

rs1491254528 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:78429345 (GRCh38)
5:77725169 (GRCh37)
Canonical SPDI:: NC_000005.10:78429344:GT:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.78429345_78429346del, NC_000005.9:g.77725169_77725170del

Select item 149122339011.

rs1491223390 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:78473977 (GRCh38)
5:77769800 (GRCh37)
Canonical SPDI:: NC_000005.10:78473976:AG:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.78473977_78473978del, NC_000005.9:g.77769800_77769801del

Select item 149121468812.

rs1491214688 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:78409449 (GRCh38)
5:77705273 (GRCh37)
Canonical SPDI:: NC_000005.10:78409447:CGC:C
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000169/2 (ALFA)
-=0.000124/17 (GnomAD)
HGVS:: NC_000005.10:g.78409449_78409450del, NC_000005.9:g.77705273_77705274del

Select item 149120384513.

rs1491203845 has merged into rs781320541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:78429360 (GRCh38)
5:77725184 (GRCh37)
Canonical SPDI:: NC_000005.10:78429345:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:78429345:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:78429345:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:78429345:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:78429345:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.78429360_78429362del, NC_000005.10:g.78429361_78429362del, NC_000005.10:g.78429362del, NC_000005.10:g.78429362dup, NC_000005.10:g.78429361_78429362dup, NC_000005.9:g.77725184_77725186del, NC_000005.9:g.77725185_77725186del, NC_000005.9:g.77725186del, NC_000005.9:g.77725186dup, NC_000005.9:g.77725185_77725186dup

Select item 149116967914.

rs1491169679 has merged into rs70998000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:78366932 (GRCh38)
5:77662756 (GRCh37)
Canonical SPDI:: NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:78366920:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.017708/4687 (TOPMED)
-=0.082771/319 (ALSPAC)
HGVS:: NC_000005.10:g.78366932_78366937del, NC_000005.10:g.78366933_78366937del, NC_000005.10:g.78366934_78366937del, NC_000005.10:g.78366935_78366937del, NC_000005.10:g.78366936_78366937del, NC_000005.10:g.78366937del, NC_000005.10:g.78366937dup, NC_000005.10:g.78366936_78366937dup, NC_000005.10:g.78366935_78366937dup, NC_000005.10:g.78366934_78366937dup, NC_000005.10:g.78366921_78366937A[20]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.77662756_77662761del, NC_000005.9:g.77662757_77662761del, NC_000005.9:g.77662758_77662761del, NC_000005.9:g.77662759_77662761del, NC_000005.9:g.77662760_77662761del, NC_000005.9:g.77662761del, NC_000005.9:g.77662761dup, NC_000005.9:g.77662760_77662761dup, NC_000005.9:g.77662759_77662761dup, NC_000005.9:g.77662758_77662761dup, NC_000005.9:g.77662745_77662761A[20]CAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149116791515.

rs1491167915 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:78443677 (GRCh38)
5:77739501 (GRCh37)
Canonical SPDI:: NC_000005.10:78443676:TG:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.78443677_78443678del, NC_000005.9:g.77739501_77739502del

Select item 149115782916.

rs1491157829 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:78365472 (GRCh38)
5:77661296 (GRCh37)
Canonical SPDI:: NC_000005.10:78365471:CA:
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00379/45 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000005.10:g.78365472_78365473del, NC_000005.9:g.77661296_77661297del

Select item 149111286217.

rs1491112862 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:78398540 (GRCh38)
5:77694365 (GRCh37)
Canonical SPDI:: NC_000005.10:78398540:A:AA
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00027/14 (GnomAD)
HGVS:: NC_000005.10:g.78398541dup, NC_000005.9:g.77694365dup

Select item 149110971118.

rs1491109711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:78398541 (GRCh38)
5:77694365 (GRCh37)
Canonical SPDI:: NC_000005.10:78398539:TAT:T
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
HGVS:: NC_000005.10:g.78398541_78398542del, NC_000005.9:g.77694365_77694366del

Select item 149108630119.

rs1491086301 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT,GTGTCT [Show Flanks]
Chromosome:: 5:78462227 (GRCh38)
5:77758051 (GRCh37)
Canonical SPDI:: NC_000005.10:78462227:T:TGTCT,NC_000005.10:78462227:T:TGTGTCT
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTCT=0./0 (ALFA)
TGTGTC=0.000007/1 (GnomAD)
TGTGTC=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.78462228_78462229insGTCT, NC_000005.10:g.78462228TG[2]TCT[1], NC_000005.9:g.77758051_77758052insGTCT, NC_000005.9:g.77758051TG[2]TCT[1]

Select item 149099223820.

rs1490992238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:78413500 (GRCh38)
5:77709324 (GRCh37)
Canonical SPDI:: NC_000005.10:78413499:C:T
Gene:: SCAMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.78413500C>T, NC_000005.9:g.77709324C>T

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