SNP Links for Gene (Select 9976) - SNP

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Select item 14914757701.

rs1491475770 has merged into rs56774558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:9865189 (GRCh38)
12:10017788 (GRCh37)
Canonical SPDI:: NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9865180:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAA=0.3524/1765 (1000Genomes)
HGVS:: NC_000012.12:g.9865189_9865201del, NC_000012.12:g.9865193_9865201del, NC_000012.12:g.9865194_9865201del, NC_000012.12:g.9865195_9865201del, NC_000012.12:g.9865196_9865201del, NC_000012.12:g.9865197_9865201del, NC_000012.12:g.9865198_9865201del, NC_000012.12:g.9865199_9865201del, NC_000012.12:g.9865200_9865201del, NC_000012.12:g.9865201del, NC_000012.12:g.9865201dup, NC_000012.12:g.9865200_9865201dup, NC_000012.12:g.9865199_9865201dup, NC_000012.12:g.9865198_9865201dup, NC_000012.12:g.9865197_9865201dup, NC_000012.12:g.9865195_9865201dup, NC_000012.12:g.9865194_9865201dup, NC_000012.12:g.9865188_9865201dup, NC_000012.12:g.9865187_9865201dup, NC_000012.12:g.9865186_9865201dup, NC_000012.12:g.9865182_9865201dup, NC_000012.11:g.10017788_10017800del, NC_000012.11:g.10017792_10017800del, NC_000012.11:g.10017793_10017800del, NC_000012.11:g.10017794_10017800del, NC_000012.11:g.10017795_10017800del, NC_000012.11:g.10017796_10017800del, NC_000012.11:g.10017797_10017800del, NC_000012.11:g.10017798_10017800del, NC_000012.11:g.10017799_10017800del, NC_000012.11:g.10017800del, NC_000012.11:g.10017800dup, NC_000012.11:g.10017799_10017800dup, NC_000012.11:g.10017798_10017800dup, NC_000012.11:g.10017797_10017800dup, NC_000012.11:g.10017796_10017800dup, NC_000012.11:g.10017794_10017800dup, NC_000012.11:g.10017793_10017800dup, NC_000012.11:g.10017787_10017800dup, NC_000012.11:g.10017786_10017800dup, NC_000012.11:g.10017785_10017800dup, NC_000012.11:g.10017781_10017800dup

Select item 14913658752.

rs1491365875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:9869860 (GRCh38)
12:10022459 (GRCh37)
Canonical SPDI:: NC_000012.12:9869858:AAA:A
Gene:: CLEC2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00523/62 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000012.12:g.9869860_9869861del, NC_000012.11:g.10022459_10022460del

Select item 14913523403.

rs1491352340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 12:9853070 (GRCh38)
12:10005670 (GRCh37)
Canonical SPDI:: NC_000012.12:9853070:AAGAA:AAGAAGAA
Gene:: CLEC2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: AAG=0.00021/3 (TOMMO)
AAG=0.00036/1 (GnomAD)
HGVS:: NC_000012.12:g.9853073_9853075dup, NC_000012.11:g.10005672_10005674dup, NM_005127.3:c.*227_*229dup, NM_005127.2:c.*227_*229dup

Select item 14912223914.

rs1491222391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:9865180 (GRCh38)
12:10017779 (GRCh37)
Canonical SPDI:: NC_000012.12:9865179:CA:
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0032/38 (ALFA)
HGVS:: NC_000012.12:g.9865180_9865181del, NC_000012.11:g.10017779_10017780del

Select item 14911978225.

rs1491197822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:9853083 (GRCh38)
12:10005682 (GRCh37)
Canonical SPDI:: NC_000012.12:9853081:AAA:A
Gene:: CLEC2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.9853083_9853084del, NC_000012.11:g.10005682_10005683del, NM_005127.3:c.*217_*218del, NM_005127.2:c.*217_*218del

Select item 14911962996.

rs1491196299 has merged into rs5796370 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 12:9871365 (GRCh38)
12:10023964 (GRCh37)
Canonical SPDI:: NC_000012.12:9871364:TTTTTTTT:TTTTTTT,NC_000012.12:9871364:TTTTTTTT:TTTTTTTTT,NC_000012.12:9871364:TTTTTTTT:TTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.0587/549 (ALFA)
-=0.2624/1050 (1000Genomes)
HGVS:: NC_000012.12:g.9871372del, NC_000012.12:g.9871372dup, NC_000012.12:g.9871371_9871372dup, NC_000012.11:g.10023971del, NC_000012.11:g.10023971dup, NC_000012.11:g.10023970_10023971dup

Select item 14910757497.

rs1491075749 has merged into rs34581887 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 12:9864174 (GRCh38)
12:10016773 (GRCh37)
Canonical SPDI:: NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9864163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.4637/2322 (1000Genomes)
HGVS:: NC_000012.12:g.9864174_9864177del, NC_000012.12:g.9864176_9864177del, NC_000012.12:g.9864177del, NC_000012.12:g.9864177dup, NC_000012.12:g.9864176_9864177dup, NC_000012.12:g.9864175_9864177dup, NC_000012.11:g.10016773_10016776del, NC_000012.11:g.10016775_10016776del, NC_000012.11:g.10016776del, NC_000012.11:g.10016776dup, NC_000012.11:g.10016775_10016776dup, NC_000012.11:g.10016774_10016776dup

Select item 14908257818.

rs1490825781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:9860556 (GRCh38)
12:10013155 (GRCh37)
Canonical SPDI:: NC_000012.12:9860555:T:G
Gene:: CLEC2B (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_000012.12:g.9860556T>G, NC_000012.11:g.10013155T>G

Select item 14906651869.

rs1490665186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:9861295 (GRCh38)
12:10013894 (GRCh37)
Canonical SPDI:: NC_000012.12:9861294:T:A
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9861295T>A, NC_000012.11:g.10013894T>A

Select item 149043135710.

rs1490431357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9856000 (GRCh38)
12:10008599 (GRCh37)
Canonical SPDI:: NC_000012.12:9855999:G:A
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.9856000G>A, NC_000012.11:g.10008599G>A

Select item 149013442311.

rs1490134423 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:9852764 (GRCh38)
12:10005363 (GRCh37)
Canonical SPDI:: NC_000012.12:9852762:TTT:T
Gene:: CLEC2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9852764_9852765del, NC_000012.11:g.10005363_10005364del, NM_005127.3:c.*536_*537del, NM_005127.2:c.*536_*537del

Select item 148996452512.

rs1489964525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9869264 (GRCh38)
12:10021863 (GRCh37)
Canonical SPDI:: NC_000012.12:9869263:G:A
Gene:: CLEC2B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.9869264G>A, NC_000012.11:g.10021863G>A, NM_005127.3:c.-62C>T, NM_005127.2:c.-62C>T

Select item 148987821213.

rs1489878212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:9853874 (GRCh38)
12:10006473 (GRCh37)
Canonical SPDI:: NC_000012.12:9853873:C:A
Gene:: CLEC2B (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_000012.12:g.9853874C>A, NC_000012.11:g.10006473C>A

Select item 148948759714.

rs1489487597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:9867002 (GRCh38)
12:10019601 (GRCh37)
Canonical SPDI:: NC_000012.12:9867001:C:A,NC_000012.12:9867001:C:T
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.9867002C>A, NC_000012.12:g.9867002C>T, NC_000012.11:g.10019601C>A, NC_000012.11:g.10019601C>T

Select item 148935198115.

rs1489351981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9858455 (GRCh38)
12:10011054 (GRCh37)
Canonical SPDI:: NC_000012.12:9858454:T:C
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.9858455T>C, NC_000012.11:g.10011054T>C

Select item 148925752316.

rs1489257523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9863133 (GRCh38)
12:10015732 (GRCh37)
Canonical SPDI:: NC_000012.12:9863132:C:T
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.9863133C>T, NC_000012.11:g.10015732C>T

Select item 148898837017.

rs1488988370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:9853403 (GRCh38)
12:10006002 (GRCh37)
Canonical SPDI:: NC_000012.12:9853402:C:G
Gene:: CLEC2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.9853403C>G, NC_000012.11:g.10006002C>G, NM_005127.3:c.347G>C, NM_005127.2:c.347G>C, NP_005118.2:p.Gly116Ala

Select item 148897626518.

rs1488976265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9869343 (GRCh38)
12:10021942 (GRCh37)
Canonical SPDI:: NC_000012.12:9869342:T:C
Gene:: CLEC2B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.9869343T>C, NC_000012.11:g.10021942T>C, NM_005127.3:c.-141A>G, NM_005127.2:c.-141A>G

Select item 148895370719.

rs1488953707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:9868215 (GRCh38)
12:10020814 (GRCh37)
Canonical SPDI:: NC_000012.12:9868214:T:A
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.9868215T>A, NC_000012.11:g.10020814T>A

Select item 148893862620.

rs1488938626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9863470 (GRCh38)
12:10016069 (GRCh37)
Canonical SPDI:: NC_000012.12:9863469:T:C
Gene:: CLEC2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.9863470T>C, NC_000012.11:g.10016069T>C

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