SNP Links for Gene (Select 1207) - SNP

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Select item 14915517721.

rs1491551772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:77625714 (GRCh38)
11:77336760 (GRCh37)
Canonical SPDI:: NC_000011.10:77625714:A:AA
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77625715dup, NC_000011.9:g.77336760dup

Select item 14914168682.

rs1491416868 has merged into rs59446017 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:77638850 (GRCh38)
11:77349895 (GRCh37)
Canonical SPDI:: NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:77638839:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLNS1A (Varview), LOC107984369 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1079/416 (ALSPAC)
-=0.2879/1442 (1000Genomes)
HGVS:: NC_000011.10:g.77638850_77638855del, NC_000011.10:g.77638852_77638855del, NC_000011.10:g.77638853_77638855del, NC_000011.10:g.77638854_77638855del, NC_000011.10:g.77638855del, NC_000011.10:g.77638855dup, NC_000011.10:g.77638854_77638855dup, NC_000011.10:g.77638848_77638855dup, NC_000011.9:g.77349895_77349900del, NC_000011.9:g.77349897_77349900del, NC_000011.9:g.77349898_77349900del, NC_000011.9:g.77349899_77349900del, NC_000011.9:g.77349900del, NC_000011.9:g.77349900dup, NC_000011.9:g.77349899_77349900dup, NC_000011.9:g.77349893_77349900dup

Select item 14912550603.

rs1491255060 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:77638839 (GRCh38)
11:77349884 (GRCh37)
Canonical SPDI:: NC_000011.10:77638838:CA:
Gene:: CLNS1A (Varview), LOC107984369 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.77638839_77638840del, NC_000011.9:g.77349884_77349885del

Select item 14910223874.

rs1491022387 has merged into rs11407487 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:77639777 (GRCh38)
11:77350822 (GRCh37)
Canonical SPDI:: NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:77639766:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLNS1A (Varview), LOC107984369 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.77639777_77639793del, NC_000011.10:g.77639778_77639793del, NC_000011.10:g.77639779_77639793del, NC_000011.10:g.77639780_77639793del, NC_000011.10:g.77639781_77639793del, NC_000011.10:g.77639782_77639793del, NC_000011.10:g.77639783_77639793del, NC_000011.10:g.77639784_77639793del, NC_000011.10:g.77639785_77639793del, NC_000011.10:g.77639786_77639793del, NC_000011.10:g.77639787_77639793del, NC_000011.10:g.77639788_77639793del, NC_000011.10:g.77639789_77639793del, NC_000011.10:g.77639790_77639793del, NC_000011.10:g.77639791_77639793del, NC_000011.10:g.77639792_77639793del, NC_000011.10:g.77639793del, NC_000011.10:g.77639793dup, NC_000011.10:g.77639792_77639793dup, NC_000011.10:g.77639791_77639793dup, NC_000011.10:g.77639790_77639793dup, NC_000011.10:g.77639789_77639793dup, NC_000011.10:g.77639788_77639793dup, NC_000011.10:g.77639787_77639793dup, NC_000011.10:g.77639786_77639793dup, NC_000011.10:g.77639785_77639793dup, NC_000011.10:g.77639784_77639793dup, NC_000011.10:g.77639783_77639793dup, NC_000011.10:g.77639782_77639793dup, NC_000011.10:g.77639781_77639793dup, NC_000011.10:g.77639780_77639793dup, NC_000011.10:g.77639779_77639793dup, NC_000011.10:g.77639778_77639793dup, NC_000011.10:g.77639775_77639793dup, NC_000011.10:g.77639774_77639793dup, NC_000011.10:g.77639773_77639793dup, NC_000011.9:g.77350822_77350838del, NC_000011.9:g.77350823_77350838del, NC_000011.9:g.77350824_77350838del, NC_000011.9:g.77350825_77350838del, NC_000011.9:g.77350826_77350838del, NC_000011.9:g.77350827_77350838del, NC_000011.9:g.77350828_77350838del, NC_000011.9:g.77350829_77350838del, NC_000011.9:g.77350830_77350838del, NC_000011.9:g.77350831_77350838del, NC_000011.9:g.77350832_77350838del, NC_000011.9:g.77350833_77350838del, NC_000011.9:g.77350834_77350838del, NC_000011.9:g.77350835_77350838del, NC_000011.9:g.77350836_77350838del, NC_000011.9:g.77350837_77350838del, NC_000011.9:g.77350838del, NC_000011.9:g.77350838dup, NC_000011.9:g.77350837_77350838dup, NC_000011.9:g.77350836_77350838dup, NC_000011.9:g.77350835_77350838dup, NC_000011.9:g.77350834_77350838dup, NC_000011.9:g.77350833_77350838dup, NC_000011.9:g.77350832_77350838dup, NC_000011.9:g.77350831_77350838dup, NC_000011.9:g.77350830_77350838dup, NC_000011.9:g.77350829_77350838dup, NC_000011.9:g.77350828_77350838dup, NC_000011.9:g.77350827_77350838dup, NC_000011.9:g.77350826_77350838dup, NC_000011.9:g.77350825_77350838dup, NC_000011.9:g.77350824_77350838dup, NC_000011.9:g.77350823_77350838dup, NC_000011.9:g.77350820_77350838dup, NC_000011.9:g.77350819_77350838dup, NC_000011.9:g.77350818_77350838dup

Select item 14909506435.

rs1490950643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77623111 (GRCh38)
11:77334156 (GRCh37)
Canonical SPDI:: NC_000011.10:77623110:A:G
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77623111A>G, NC_000011.9:g.77334156A>G

Select item 14908178346.

rs1490817834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:77618499 (GRCh38)
11:77329544 (GRCh37)
Canonical SPDI:: NC_000011.10:77618498:T:G
Gene:: CLNS1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77618499T>G, NC_000011.9:g.77329544T>G

Select item 14904591887.

rs1490459188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:77624456 (GRCh38)
11:77335501 (GRCh37)
Canonical SPDI:: NC_000011.10:77624455:T:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.77624456T>A, NC_000011.9:g.77335501T>A

Select item 14904233408.

rs1490423340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:77626636 (GRCh38)
11:77337681 (GRCh37)
Canonical SPDI:: NC_000011.10:77626635:C:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.77626636C>A, NC_000011.9:g.77337681C>A

Select item 14903520089.

rs1490352008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:77626891 (GRCh38)
11:77337936 (GRCh37)
Canonical SPDI:: NC_000011.10:77626890:T:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.77626891T>A, NC_000011.9:g.77337936T>A

Select item 149034390910.

rs1490343909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77620419 (GRCh38)
11:77331464 (GRCh37)
Canonical SPDI:: NC_000011.10:77620418:A:G
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.77620419A>G, NC_000011.9:g.77331464A>G

Select item 149032886911.

rs1490328869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:77619030 (GRCh38)
11:77330075 (GRCh37)
Canonical SPDI:: NC_000011.10:77619029:A:T
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.77619030A>T, NC_000011.9:g.77330075A>T

Select item 148985968812.

rs1489859688 has merged into rs1291155480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 11:77627288 (GRCh38)
11:77338333 (GRCh37)
Canonical SPDI:: NC_000011.10:77627276:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:77627276:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:77627276:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.00167/1 (NorthernSweden)
A=0.00344/22 (1000Genomes)
HGVS:: NC_000011.10:g.77627288_77627289del, NC_000011.10:g.77627289del, NC_000011.10:g.77627289dup, NC_000011.9:g.77338333_77338334del, NC_000011.9:g.77338334del, NC_000011.9:g.77338334dup

Select item 148983528513.

rs1489835285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77619623 (GRCh38)
11:77330668 (GRCh37)
Canonical SPDI:: NC_000011.10:77619622:C:T
Gene:: CLNS1A (Varview)
Functional Consequence:: 3_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_000011.10:g.77619623C>T, NC_000011.9:g.77330668C>T, NM_001293.3:c.*5G>A, NM_001293.2:c.*5G>A, NM_001311200.2:c.*5G>A, NM_001311200.1:c.*5G>A, NM_001311201.2:c.*5G>A, NM_001311201.1:c.*5G>A, NM_001311202.2:c.*5G>A, NM_001311202.1:c.*5G>A, NM_001311199.2:c.*5G>A, NM_001311199.1:c.*5G>A

Select item 148977976714.

rs1489779767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77635399 (GRCh38)
11:77346444 (GRCh37)
Canonical SPDI:: NC_000011.10:77635398:T:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77635399T>C, NC_000011.9:g.77346444T>C

Select item 148971078315.

rs1489710783 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 11:77629395 (GRCh38)
11:77340440 (GRCh37)
Canonical SPDI:: NC_000011.10:77629390:TTTTTTTT:TTTT,NC_000011.10:77629390:TTTTTTTT:TTTTTTT,NC_000011.10:77629390:TTTTTTTT:TTTTTTTTT
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77629395_77629398del, NC_000011.10:g.77629398del, NC_000011.10:g.77629398dup, NC_000011.9:g.77340440_77340443del, NC_000011.9:g.77340443del, NC_000011.9:g.77340443dup

Select item 148943207916.

rs1489432079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77636358 (GRCh38)
11:77347403 (GRCh37)
Canonical SPDI:: NC_000011.10:77636357:G:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77636358G>A, NC_000011.9:g.77347403G>A

Select item 148942419217.

rs1489424192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:77625114 (GRCh38)
11:77336159 (GRCh37)
Canonical SPDI:: NC_000011.10:77625113:A:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77625114A>C, NC_000011.9:g.77336159A>C

Select item 148940142318.

rs1489401423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77629595 (GRCh38)
11:77340640 (GRCh37)
Canonical SPDI:: NC_000011.10:77629594:C:T
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77629595C>T, NC_000011.9:g.77340640C>T

Select item 148938353319.

rs1489383533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:77632378 (GRCh38)
11:77343423 (GRCh37)
Canonical SPDI:: NC_000011.10:77632377:A:G,NC_000011.10:77632377:A:T
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000156/1 (1000Genomes)
G=0.000535/75 (GnomAD)
HGVS:: NC_000011.10:g.77632378A>G, NC_000011.10:g.77632378A>T, NC_000011.9:g.77343423A>G, NC_000011.9:g.77343423A>T

Select item 148927560220.

rs1489275602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77636378 (GRCh38)
11:77347423 (GRCh37)
Canonical SPDI:: NC_000011.10:77636377:A:G
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77636378A>G, NC_000011.9:g.77347423A>G

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