SNP Links for Gene (Select 57648) - SNP

Links from Gene

Items: 1 to 20 of 8613

<< First< Prev

Page of 431

Next >Last >>

Select item 14915461581.

rs1491546158 has merged into rs55782274 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32745567 (GRCh38)
1:33211168 (GRCh37)
Canonical SPDI:: NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32745557:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.32745567_32745578del, NC_000001.11:g.32745571_32745578del, NC_000001.11:g.32745574_32745578del, NC_000001.11:g.32745575_32745578del, NC_000001.11:g.32745576_32745578del, NC_000001.11:g.32745577_32745578del, NC_000001.11:g.32745578del, NC_000001.11:g.32745578dup, NC_000001.11:g.32745577_32745578dup, NC_000001.11:g.32745576_32745578dup, NC_000001.11:g.32745566_32745578dup, NC_000001.10:g.33211168_33211179del, NC_000001.10:g.33211172_33211179del, NC_000001.10:g.33211175_33211179del, NC_000001.10:g.33211176_33211179del, NC_000001.10:g.33211177_33211179del, NC_000001.10:g.33211178_33211179del, NC_000001.10:g.33211179del, NC_000001.10:g.33211179dup, NC_000001.10:g.33211178_33211179dup, NC_000001.10:g.33211177_33211179dup, NC_000001.10:g.33211167_33211179dup

Select item 14914760182.

rs1491476018 has merged into rs370412815 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:32760597 (GRCh38)
1:33226198 (GRCh37)
Canonical SPDI:: NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:32760588:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA1522 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.143606/38011 (TOPMED)
-=0.145168/727 (1000Genomes)
HGVS:: NC_000001.11:g.32760597_32760604del, NC_000001.11:g.32760599_32760604del, NC_000001.11:g.32760600_32760604del, NC_000001.11:g.32760601_32760604del, NC_000001.11:g.32760602_32760604del, NC_000001.11:g.32760603_32760604del, NC_000001.11:g.32760604del, NC_000001.11:g.32760604dup, NC_000001.11:g.32760603_32760604dup, NC_000001.11:g.32760602_32760604dup, NC_000001.11:g.32760601_32760604dup, NC_000001.11:g.32760600_32760604dup, NC_000001.10:g.33226198_33226205del, NC_000001.10:g.33226200_33226205del, NC_000001.10:g.33226201_33226205del, NC_000001.10:g.33226202_33226205del, NC_000001.10:g.33226203_33226205del, NC_000001.10:g.33226204_33226205del, NC_000001.10:g.33226205del, NC_000001.10:g.33226205dup, NC_000001.10:g.33226204_33226205dup, NC_000001.10:g.33226203_33226205dup, NC_000001.10:g.33226202_33226205dup, NC_000001.10:g.33226201_33226205dup

Select item 14913204823.

rs1491320482 has merged into rs4011938 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCC>-,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:32756474 (GRCh38)
1:33222075 (GRCh37)
Canonical SPDI:: NC_000001.11:32756470:CCCCCCCCCCCC:CCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:32756470:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: KIAA1522 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
CCCCC=0.45/18 (GENOME_DK)
HGVS:: NC_000001.11:g.32756474_32756482del, NC_000001.11:g.32756479_32756482del, NC_000001.11:g.32756481_32756482del, NC_000001.11:g.32756482del, NC_000001.11:g.32756482dup, NC_000001.11:g.32756481_32756482dup, NC_000001.11:g.32756480_32756482dup, NC_000001.11:g.32756479_32756482dup, NC_000001.11:g.32756478_32756482dup, NC_000001.11:g.32756477_32756482dup, NC_000001.11:g.32756474_32756482dup, NC_000001.11:g.32756473_32756482dup, NC_000001.11:g.32756472_32756482dup, NC_000001.11:g.32756471_32756482dup, NC_000001.11:g.32756482_32756483insCCCCCCCCCCCCC, NC_000001.11:g.32756482_32756483insCCCCCCCCCCCCCC, NC_000001.10:g.33222075_33222083del, NC_000001.10:g.33222080_33222083del, NC_000001.10:g.33222082_33222083del, NC_000001.10:g.33222083del, NC_000001.10:g.33222083dup, NC_000001.10:g.33222082_33222083dup, NC_000001.10:g.33222081_33222083dup, NC_000001.10:g.33222080_33222083dup, NC_000001.10:g.33222079_33222083dup, NC_000001.10:g.33222078_33222083dup, NC_000001.10:g.33222075_33222083dup, NC_000001.10:g.33222074_33222083dup, NC_000001.10:g.33222073_33222083dup, NC_000001.10:g.33222072_33222083dup, NC_000001.10:g.33222083_33222084insCCCCCCCCCCCCC, NC_000001.10:g.33222083_33222084insCCCCCCCCCCCCCC

Select item 14912687964.

rs1491268796 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 1:32752972 (GRCh38)
1:33218574 (GRCh37)
Canonical SPDI:: NC_000001.11:32752972::C,NC_000001.11:32752972::T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00078/5 (1000Genomes)
HGVS:: NC_000001.11:g.32752972_32752973insC, NC_000001.11:g.32752972_32752973insT, NC_000001.10:g.33218573_33218574insC, NC_000001.10:g.33218573_33218574insT

Select item 14912542715.

rs1491254271 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:32752972 (GRCh38)
1:33218573 (GRCh37)
Canonical SPDI:: NC_000001.11:32752971:GG:
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/2 (TOMMO)
HGVS:: NC_000001.11:g.32752972_32752973del, NC_000001.10:g.33218573_33218574del

Select item 14912038856.

rs1491203885 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:32745557 (GRCh38)
1:33211158 (GRCh37)
Canonical SPDI:: NC_000001.11:32745556:CA:
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.32745557_32745558del, NC_000001.10:g.33211158_33211159del

Select item 14911230787.

rs1491123078 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:32760589 (GRCh38)
1:33226191 (GRCh37)
Canonical SPDI:: NC_000001.11:32760589::G
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00388/46 (ALFA)
G=0.00032/5 (TOMMO)
G=0.0011/2 (Korea1K)
G=0.00602/425 (GnomAD)
HGVS:: NC_000001.11:g.32760589_32760590insG, NC_000001.10:g.33226190_33226191insG

Select item 14909819368.

rs1490981936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32744148 (GRCh38)
1:33209749 (GRCh37)
Canonical SPDI:: NC_000001.11:32744147:G:A
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_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)
HGVS:: NC_000001.11:g.32744148G>A, NC_000001.10:g.33209749G>A

Select item 14909543439.

rs1490954343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:32757448 (GRCh38)
1:33223049 (GRCh37)
Canonical SPDI:: NC_000001.11:32757447:G:T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32757448G>T, NC_000001.10:g.33223049G>T

Select item 149090012410.

rs1490900124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32772948 (GRCh38)
1:33238549 (GRCh37)
Canonical SPDI:: NC_000001.11:32772947:G:A
Gene:: KIAA1522 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.32772948G>A, NC_000001.10:g.33238549G>A, NG_076288.1:g.41G>A, NM_020888.3:c.*61G>A, NM_020888.2:c.*61G>A, NM_001198972.2:c.*61G>A, NM_001198972.1:c.*61G>A, NM_001198973.2:c.*61G>A, NM_001198973.1:c.*61G>A, NM_001369553.1:c.*61G>A

Select item 149086988411.

rs1490869884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:32741048 (GRCh38)
1:33206649 (GRCh37)
Canonical SPDI:: NC_000001.11:32741047:T:G
Gene:: KIAA1522 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32741048T>G, NC_000001.10:g.33206649T>G

Select item 149086439612.

rs1490864396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32773938 (GRCh38)
1:33239539 (GRCh37)
Canonical SPDI:: NC_000001.11:32773937:G:A
Gene:: KIAA1522 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.32773938G>A, NC_000001.10:g.33239539G>A, NG_008408.1:g.49095C>T, NM_020888.3:c.*1051G>A, NM_020888.2:c.*1051G>A, NM_001198972.2:c.*1051G>A, NM_001198972.1:c.*1051G>A, NM_001198973.2:c.*1051G>A, NM_001198973.1:c.*1051G>A, NM_001369553.1:c.*1051G>A

Select item 149084332713.

rs1490843327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:32742918 (GRCh38)
1:33208519 (GRCh37)
Canonical SPDI:: NC_000001.11:32742917:T:G
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32742918T>G, NC_000001.10:g.33208519T>G

Select item 149082958114.

rs1490829581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32759042 (GRCh38)
1:33224643 (GRCh37)
Canonical SPDI:: NC_000001.11:32759041:G:A
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_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)
HGVS:: NC_000001.11:g.32759042G>A, NC_000001.10:g.33224643G>A

Select item 149079005615.

rs1490790056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32766414 (GRCh38)
1:33232015 (GRCh37)
Canonical SPDI:: NC_000001.11:32766413:C:T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32766414C>T, NC_000001.10:g.33232015C>T

Select item 149068580616.

rs1490685806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:32742988 (GRCh38)
1:33208589 (GRCh37)
Canonical SPDI:: NC_000001.11:32742987:C:A,NC_000001.11:32742987:C:T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32742988C>A, NC_000001.11:g.32742988C>T, NC_000001.10:g.33208589C>A, NC_000001.10:g.33208589C>T

Select item 149064603217.

rs1490646032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32766978 (GRCh38)
1:33232579 (GRCh37)
Canonical SPDI:: NC_000001.11:32766977:C:T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32766978C>T, NC_000001.10:g.33232579C>T

Select item 149046608518.

rs1490466085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32746255 (GRCh38)
1:33211856 (GRCh37)
Canonical SPDI:: NC_000001.11:32746254:G:A
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00068/11 (TOMMO)
A=0.03012/88 (KOREAN)
HGVS:: NC_000001.11:g.32746255G>A, NC_000001.10:g.33211856G>A

Select item 149046486419.

rs1490464864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:32765763 (GRCh38)
1:33231364 (GRCh37)
Canonical SPDI:: NC_000001.11:32765762:C:G,NC_000001.11:32765762:C:T
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.32765763C>G, NC_000001.11:g.32765763C>T, NC_000001.10:g.33231364C>G, NC_000001.10:g.33231364C>T, NM_001198972.2:c.-7C>G, NM_001198972.2:c.-7C>T, NM_001198972.1:c.-7C>G, NM_001198972.1:c.-7C>T, NM_001198973.2:c.-7C>G, NM_001198973.2:c.-7C>T, NM_001198973.1:c.-7C>G, NM_001198973.1:c.-7C>T

Select item 149039834920.

rs1490398349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:32751484 (GRCh38)
1:33217085 (GRCh37)
Canonical SPDI:: NC_000001.11:32751483:C:G
Gene:: KIAA1522 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.32751484C>G, NC_000001.10:g.33217085C>G

<< First< Prev

Page of 431

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 8613

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity