SNP Links for Gene (Select 27254) - SNP

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Select item 14914693611.

rs1491469361 has merged into rs1344008586 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACACA,CACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 22:41561043 (GRCh38)
22:41957047 (GRCh37)
Canonical SPDI:: NC_000022.11:41561036:CACACACA:CACACA,NC_000022.11:41561036:CACACACA:CACACACACA,NC_000022.11:41561036:CACACACA:CACACACACACACA,NC_000022.11:41561036:CACACACA:CACACACACACACACACA,NC_000022.11:41561036:CACACACA:CACACACACACACACACACACACACACACACA
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000022.11:g.41561037CA[3], NC_000022.11:g.41561037CA[5], NC_000022.11:g.41561037CA[7], NC_000022.11:g.41561037CA[9], NC_000022.11:g.41561037CA[16], NC_000022.10:g.41957041CA[3], NC_000022.10:g.41957041CA[5], NC_000022.10:g.41957041CA[7], NC_000022.10:g.41957041CA[9], NC_000022.10:g.41957041CA[16], NM_014460.4:c.-270CA[3], NM_014460.4:c.-270CA[5], NM_014460.4:c.-270CA[7], NM_014460.4:c.-270CA[9], NM_014460.4:c.-270CA[16], NM_014460.3:c.-270CA[3], NM_014460.3:c.-270CA[5], NM_014460.3:c.-270CA[7], NM_014460.3:c.-270CA[9], NM_014460.3:c.-270CA[16]

Select item 14914215982.

rs1491421598 has merged into rs1287804483 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACACACA>-,GACACACAGACACACA [Show Flanks]
Chromosome:: 22:41561045 (GRCh38)
22:41957049 (GRCh37)
Canonical SPDI:: NC_000022.11:41561037:ACACACAGACACACA:ACACACA,NC_000022.11:41561037:ACACACAGACACACA:ACACACAGACACACAGACACACA
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACAGACACACAGACACACA=0./0 (ALFA)
HGVS:: NC_000022.11:g.41561045_41561052del, NC_000022.11:g.41561045_41561052dup, NC_000022.10:g.41957049_41957056del, NC_000022.10:g.41957049_41957056dup, NM_014460.4:c.-262_-255del, NM_014460.4:c.-262_-255dup, NM_014460.3:c.-262_-255del, NM_014460.3:c.-262_-255dup

Select item 14913647343.

rs1491364734 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:41570821 (GRCh38)
22:41966825 (GRCh37)
Canonical SPDI:: NC_000022.11:41570820:CA:
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000022.11:g.41570821_41570822del, NC_000022.10:g.41966825_41966826del

Select item 14913148724.

rs1491314872 has merged into rs57009120 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 22:41564098 (GRCh38)
22:41960102 (GRCh37)
Canonical SPDI:: NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41564087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.19625/115 (NorthernSweden)
-=0.19694/759 (ALSPAC)
-=0.19822/735 (TWINSUK)
-=0.27177/1361 (1000Genomes)
HGVS:: NC_000022.11:g.41564098_41564102del, NC_000022.11:g.41564099_41564102del, NC_000022.11:g.41564100_41564102del, NC_000022.11:g.41564101_41564102del, NC_000022.11:g.41564102del, NC_000022.11:g.41564102dup, NC_000022.11:g.41564101_41564102dup, NC_000022.10:g.41960102_41960106del, NC_000022.10:g.41960103_41960106del, NC_000022.10:g.41960104_41960106del, NC_000022.10:g.41960105_41960106del, NC_000022.10:g.41960106del, NC_000022.10:g.41960106dup, NC_000022.10:g.41960105_41960106dup

Select item 14911559455.

rs1491155945 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:41564087 (GRCh38)
22:41960091 (GRCh37)
Canonical SPDI:: NC_000022.11:41564086:TA:
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41564087_41564088del, NC_000022.10:g.41960091_41960092del

Select item 14909363116.

rs1490936311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:41568926 (GRCh38)
22:41964930 (GRCh37)
Canonical SPDI:: NC_000022.11:41568925:G:C
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41568926G>C, NC_000022.10:g.41964930G>C

Select item 14907157327.

rs1490715732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41561902 (GRCh38)
22:41957906 (GRCh37)
Canonical SPDI:: NC_000022.11:41561901:C:G
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000022.11:g.41561902C>G, NC_000022.10:g.41957906C>G

Select item 14906898148.

rs1490689814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41562878 (GRCh38)
22:41958882 (GRCh37)
Canonical SPDI:: NC_000022.11:41562877:C:G
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41562878C>G, NC_000022.10:g.41958882C>G

Select item 14906876639.

rs1490687663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41575702 (GRCh38)
22:41971706 (GRCh37)
Canonical SPDI:: NC_000022.11:41575701:C:T
Gene:: CSDC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41575702C>T, NC_000022.10:g.41971706C>T, NM_014460.4:c.*807C>T, NM_014460.3:c.*807C>T

Select item 149020029710.

rs1490200297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41574289 (GRCh38)
22:41970293 (GRCh37)
Canonical SPDI:: NC_000022.11:41574288:G:A
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41574289G>A, NC_000022.10:g.41970293G>A

Select item 149018823011.

rs1490188230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41564039 (GRCh38)
22:41960043 (GRCh37)
Canonical SPDI:: NC_000022.11:41564038:G:A
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.41564039G>A, NC_000022.10:g.41960043G>A

Select item 149018517412.

rs1490185174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41565847 (GRCh38)
22:41961851 (GRCh37)
Canonical SPDI:: NC_000022.11:41565846:G:A
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41565847G>A, NC_000022.10:g.41961851G>A, NG_075138.1:g.323G>A

Select item 148999001613.

rs1489990016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41566876 (GRCh38)
22:41962880 (GRCh37)
Canonical SPDI:: NC_000022.11:41566875:A:G
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00051/6 (ALFA)
HGVS:: NC_000022.11:g.41566876A>G, NC_000022.10:g.41962880A>G

Select item 148967850914.

rs1489678509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41561103 (GRCh38)
22:41957107 (GRCh37)
Canonical SPDI:: NC_000022.11:41561102:C:T
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,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_000022.11:g.41561103C>T, NC_000022.10:g.41957107C>T, NM_014460.4:c.-204C>T, NM_014460.3:c.-204C>T

Select item 148962411915.

rs1489624119 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 22:41573879 (GRCh38)
22:41969884 (GRCh37)
Canonical SPDI:: NC_000022.11:41573879:TAT:TATAT
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41573881_41573882dup, NC_000022.10:g.41969885_41969886dup

Select item 148950463516.

rs1489504635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:41572868 (GRCh38)
22:41968872 (GRCh37)
Canonical SPDI:: NC_000022.11:41572867:G:A,NC_000022.11:41572867:G:C
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.41572868G>A, NC_000022.11:g.41572868G>C, NC_000022.10:g.41968872G>A, NC_000022.10:g.41968872G>C

Select item 148943548317.

rs1489435483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:41560606 (GRCh38)
22:41956610 (GRCh37)
Canonical SPDI:: NC_000022.11:41560605:G:A,NC_000022.11:41560605:G:C
Gene:: CSDC2 (Varview), LOC105373044 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41560606G>A, NC_000022.11:g.41560606G>C, NC_000022.10:g.41956610G>A, NC_000022.10:g.41956610G>C

Select item 148915132818.

rs1489151328 has merged into rs1242446514 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 22:41567476 (GRCh38)
22:41963480 (GRCh37)
Canonical SPDI:: NC_000022.11:41567475:TTTT:TTT,NC_000022.11:41567475:TTTT:TTTTT
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.41567479del, NC_000022.11:g.41567479dup, NC_000022.10:g.41963483del, NC_000022.10:g.41963483dup

Select item 148896707919.

rs1488967079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41563895 (GRCh38)
22:41959899 (GRCh37)
Canonical SPDI:: NC_000022.11:41563894:C:T
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.41563895C>T, NC_000022.10:g.41959899C>T

Select item 148894616020.

rs1488946160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:41563288 (GRCh38)
22:41959292 (GRCh37)
Canonical SPDI:: NC_000022.11:41563287:G:A,NC_000022.11:41563287:G:C
Gene:: CSDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41563288G>A, NC_000022.11:g.41563288G>C, NC_000022.10:g.41959292G>A, NC_000022.10:g.41959292G>C

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