SNP Links for Gene (Select 389383) - SNP

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Select item 14915169991.

rs1491516999 has merged into rs150177330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 6:35777645 (GRCh38)
6:35745422 (GRCh37)
Canonical SPDI:: NC_000006.12:35777636:AAAAAAAAAA:AAAAAAAA,NC_000006.12:35777636:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:35777636:AAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:35777636:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00117/20 (TOMMO)
-=0.00328/6 (Korea1K)
-=0.00424/19 (Estonian)
-=0.01303/13 (GoNL)
-=0.01667/10 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000006.12:g.35777645_35777646del, NC_000006.12:g.35777646del, NC_000006.12:g.35777646dup, NC_000006.12:g.35777645_35777646dup, NC_000006.11:g.35745422_35745423del, NC_000006.11:g.35745423del, NC_000006.11:g.35745423dup, NC_000006.11:g.35745422_35745423dup

Select item 14915104372.

rs1491510437 [Homo sapiens]

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

Select item 14914698823.

rs1491469882 has merged into rs71540120 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:35775027 (GRCh38)
6:35742804 (GRCh37)
Canonical SPDI:: NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35775015:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000006.12:g.35775027_35775047del, NC_000006.12:g.35775029_35775047del, NC_000006.12:g.35775030_35775047del, NC_000006.12:g.35775031_35775047del, NC_000006.12:g.35775032_35775047del, NC_000006.12:g.35775033_35775047del, NC_000006.12:g.35775034_35775047del, NC_000006.12:g.35775035_35775047del, NC_000006.12:g.35775036_35775047del, NC_000006.12:g.35775037_35775047del, NC_000006.12:g.35775038_35775047del, NC_000006.12:g.35775039_35775047del, NC_000006.12:g.35775040_35775047del, NC_000006.12:g.35775041_35775047del, NC_000006.12:g.35775042_35775047del, NC_000006.12:g.35775043_35775047del, NC_000006.12:g.35775044_35775047del, NC_000006.12:g.35775045_35775047del, NC_000006.12:g.35775046_35775047del, NC_000006.12:g.35775047del, NC_000006.12:g.35775047dup, NC_000006.12:g.35775046_35775047dup, NC_000006.12:g.35775045_35775047dup, NC_000006.12:g.35775044_35775047dup, NC_000006.12:g.35775043_35775047dup, NC_000006.12:g.35775042_35775047dup, NC_000006.12:g.35775041_35775047dup, NC_000006.12:g.35775040_35775047dup, NC_000006.12:g.35775039_35775047dup, NC_000006.12:g.35775038_35775047dup, NC_000006.12:g.35775037_35775047dup, NC_000006.12:g.35775036_35775047dup, NC_000006.12:g.35775035_35775047dup, NC_000006.12:g.35775034_35775047dup, NC_000006.12:g.35775033_35775047dup, NC_000006.12:g.35775032_35775047dup, NC_000006.12:g.35775031_35775047dup, NC_000006.12:g.35775030_35775047dup, NC_000006.12:g.35775029_35775047dup, NC_000006.12:g.35775028_35775047dup, NC_000006.12:g.35775027_35775047dup, NC_000006.12:g.35775026_35775047dup, NC_000006.12:g.35775025_35775047dup, NC_000006.11:g.35742804_35742824del, NC_000006.11:g.35742806_35742824del, NC_000006.11:g.35742807_35742824del, NC_000006.11:g.35742808_35742824del, NC_000006.11:g.35742809_35742824del, NC_000006.11:g.35742810_35742824del, NC_000006.11:g.35742811_35742824del, NC_000006.11:g.35742812_35742824del, NC_000006.11:g.35742813_35742824del, NC_000006.11:g.35742814_35742824del, NC_000006.11:g.35742815_35742824del, NC_000006.11:g.35742816_35742824del, NC_000006.11:g.35742817_35742824del, NC_000006.11:g.35742818_35742824del, NC_000006.11:g.35742819_35742824del, NC_000006.11:g.35742820_35742824del, NC_000006.11:g.35742821_35742824del, NC_000006.11:g.35742822_35742824del, NC_000006.11:g.35742823_35742824del, NC_000006.11:g.35742824del, NC_000006.11:g.35742824dup, NC_000006.11:g.35742823_35742824dup, NC_000006.11:g.35742822_35742824dup, NC_000006.11:g.35742821_35742824dup, NC_000006.11:g.35742820_35742824dup, NC_000006.11:g.35742819_35742824dup, NC_000006.11:g.35742818_35742824dup, NC_000006.11:g.35742817_35742824dup, NC_000006.11:g.35742816_35742824dup, NC_000006.11:g.35742815_35742824dup, NC_000006.11:g.35742814_35742824dup, NC_000006.11:g.35742813_35742824dup, NC_000006.11:g.35742812_35742824dup, NC_000006.11:g.35742811_35742824dup, NC_000006.11:g.35742810_35742824dup, NC_000006.11:g.35742809_35742824dup, NC_000006.11:g.35742808_35742824dup, NC_000006.11:g.35742807_35742824dup, NC_000006.11:g.35742806_35742824dup, NC_000006.11:g.35742805_35742824dup, NC_000006.11:g.35742804_35742824dup, NC_000006.11:g.35742803_35742824dup, NC_000006.11:g.35742802_35742824dup

Select item 14913838924.

rs1491383892 has merged into rs142852953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 6:35774701 (GRCh38)
6:35742478 (GRCh37)
Canonical SPDI:: NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35774687:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLPSL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4143/2075 (1000Genomes)
HGVS:: NC_000006.12:g.35774701_35774704del, NC_000006.12:g.35774702_35774704del, NC_000006.12:g.35774703_35774704del, NC_000006.12:g.35774704del, NC_000006.12:g.35774704dup, NC_000006.12:g.35774703_35774704dup, NC_000006.12:g.35774702_35774704dup, NC_000006.12:g.35774701_35774704dup, NC_000006.12:g.35774700_35774704dup, NC_000006.12:g.35774699_35774704dup, NC_000006.12:g.35774698_35774704dup, NC_000006.11:g.35742478_35742481del, NC_000006.11:g.35742479_35742481del, NC_000006.11:g.35742480_35742481del, NC_000006.11:g.35742481del, NC_000006.11:g.35742481dup, NC_000006.11:g.35742480_35742481dup, NC_000006.11:g.35742479_35742481dup, NC_000006.11:g.35742478_35742481dup, NC_000006.11:g.35742477_35742481dup, NC_000006.11:g.35742476_35742481dup, NC_000006.11:g.35742475_35742481dup

Select item 14904507115.

rs1490450711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35774948 (GRCh38)
6:35742725 (GRCh37)
Canonical SPDI:: NC_000006.12:35774947:G:A
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000015/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.35774948G>A, NC_000006.11:g.35742725G>A

Select item 14901317376.

rs1490131737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35778835 (GRCh38)
6:35746612 (GRCh37)
Canonical SPDI:: NC_000006.12:35778834:C:T
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000064/9 (GnomAD)
HGVS:: NC_000006.12:g.35778835C>T, NC_000006.11:g.35746612C>T

Select item 14880735107.

rs1488073510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:35779009 (GRCh38)
6:35746786 (GRCh37)
Canonical SPDI:: NC_000006.12:35779008:T:A
Gene:: CLPSL2 (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.35779009T>A, NC_000006.11:g.35746786T>A

Select item 14879011078.

rs1487901107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:35776490 (GRCh38)
6:35744267 (GRCh37)
Canonical SPDI:: NC_000006.12:35776489:C:G,NC_000006.12:35776489:C:T
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.35776490C>G, NC_000006.12:g.35776490C>T, NC_000006.11:g.35744267C>G, NC_000006.11:g.35744267C>T

Select item 14878383869.

rs1487838386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35775491 (GRCh38)
6:35743268 (GRCh37)
Canonical SPDI:: NC_000006.12:35775490:A:G
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000006.12:g.35775491A>G, NC_000006.11:g.35743268A>G

Select item 148757026010.

rs1487570260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35776008 (GRCh38)
6:35743785 (GRCh37)
Canonical SPDI:: NC_000006.12:35776007:A:G
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.35776008A>G, NC_000006.11:g.35743785A>G

Select item 148755337211.

rs1487553372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35775396 (GRCh38)
6:35743173 (GRCh37)
Canonical SPDI:: NC_000006.12:35775395:G:A
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.35775396G>A, NC_000006.11:g.35743173G>A

Select item 148751141812.

rs1487511418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:35775073 (GRCh38)
6:35742850 (GRCh37)
Canonical SPDI:: NC_000006.12:35775072:T:G
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.35775073T>G, NC_000006.11:g.35742850T>G

Select item 148694234413.

rs1486942344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:35775037 (GRCh38)
6:35742814 (GRCh37)
Canonical SPDI:: NC_000006.12:35775036:A:C,NC_000006.12:35775036:A:G
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000486/13 (TOMMO)
HGVS:: NC_000006.12:g.35775037A>C, NC_000006.12:g.35775037A>G, NC_000006.11:g.35742814A>C, NC_000006.11:g.35742814A>G

Select item 148626981514.

rs1486269815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35778758 (GRCh38)
6:35746535 (GRCh37)
Canonical SPDI:: NC_000006.12:35778757:G:A
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.35778758G>A, NC_000006.11:g.35746535G>A

Select item 148626951315.

rs1486269513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35777701 (GRCh38)
6:35745478 (GRCh37)
Canonical SPDI:: NC_000006.12:35777700:A:G
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35777701A>G, NC_000006.11:g.35745478A>G

Select item 148612588616.

rs1486125886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:35776867 (GRCh38)
6:35744644 (GRCh37)
Canonical SPDI:: NC_000006.12:35776866:G:T
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_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_000006.12:g.35776867G>T, NC_000006.11:g.35744644G>T

Select item 148518585517.

rs1485185855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:35776996 (GRCh38)
6:35744773 (GRCh37)
Canonical SPDI:: NC_000006.12:35776995:C:G
Gene:: CLPSL2 (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)
HGVS:: NC_000006.12:g.35776996C>G, NC_000006.11:g.35744773C>G

Select item 148448894218.

rs1484488942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35776482 (GRCh38)
6:35744259 (GRCh37)
Canonical SPDI:: NC_000006.12:35776481:C:T
Gene:: CLPSL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.35776482C>T, NC_000006.11:g.35744259C>T

Select item 148414908319.

rs1484149083 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 6:35777267 (GRCh38)
6:35745044 (GRCh37)
Canonical SPDI:: NC_000006.12:35777260:CTCCTCCTC:CTCCTC
Gene:: CLPSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35777261CTC[2], NC_000006.11:g.35745038CTC[2]

Select item 148380323020.

rs1483803230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:35776661 (GRCh38)
6:35744438 (GRCh37)
Canonical SPDI:: NC_000006.12:35776660:G:T
Gene:: CLPSL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.35776661G>T, NC_000006.11:g.35744438G>T, NM_207409.4:c.43G>T, NM_207409.3:c.43G>T, NM_207409.2:c.43G>T, NR_104467.2:n.64G>T, NR_104467.1:n.68G>T, NM_001286550.2:c.43G>T, NM_001286550.1:c.43G>T, NR_104469.2:n.64G>T, NR_104469.1:n.68G>T, NP_997292.2:p.Ala15Ser, NP_001273479.1:p.Ala15Ser

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