SNP Links for Gene (Select 643680) - SNP

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Select item 14915186731.

rs1491518673 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:60238435 (GRCh38)
11:60005909 (GRCh37)
Canonical SPDI:: NC_000011.10:60238435:T:TT
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60238436dup, NC_000011.9:g.60005909dup

Select item 14915065252.

rs1491506525 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACATATATATG,CATATATATATATG,CATATATATATG [Show Flanks]
Chromosome:: 11:60206475 (GRCh38)
11:59973949 (GRCh37)
Canonical SPDI:: NC_000011.10:60206475::CACATATATATG,NC_000011.10:60206475::CATATATATATATG,NC_000011.10:60206475::CATATATATATG
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACATATATATG=0./0 (ALFA)
CATATATATATG=0.00007/1 (TOMMO)
HGVS:: NC_000011.10:g.60206475_60206476insCACATATATATG, NC_000011.10:g.60206475_60206476insCATATATATATATG, NC_000011.10:g.60206475_60206476insCATATATATATG, NC_000011.9:g.59973948_59973949insCACATATATATG, NC_000011.9:g.59973948_59973949insCATATATATATATG, NC_000011.9:g.59973948_59973949insCATATATATATG

Select item 14914563523.

rs1491456352 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:60200923 (GRCh38)
11:59968397 (GRCh37)
Canonical SPDI:: NC_000011.10:60200923:CCCC:CCCCC
Gene:: MS4A4E (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.00008/1 (ALFA)
C=0.00112/2 (Korea1K)
C=0.00244/41 (TOMMO)
HGVS:: NC_000011.10:g.60200927dup, NC_000011.9:g.59968400dup, NM_001393391.1:c.*619dup

Select item 14913929994.

rs1491392999 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:60234882 (GRCh38)
11:60002355 (GRCh37)
Canonical SPDI:: NC_000011.10:60234881:TA:
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000084/10 (GnomAD)
HGVS:: NC_000011.10:g.60234882_60234883del, NC_000011.9:g.60002355_60002356del

Select item 14913911205.

rs1491391120 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTAT [Show Flanks]
Chromosome:: 11:60203053 (GRCh38)
11:59970527 (GRCh37)
Canonical SPDI:: NC_000011.10:60203053:T:TTTTAT
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTAT=0./0 (ALFA)
TTTTA=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60203054T[4]AT[1], NC_000011.9:g.59970527T[4]AT[1]

Select item 14913867826.

rs1491386782 has merged into rs1306216297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 11:60206485 (GRCh38)
11:59973958 (GRCh37)
Canonical SPDI:: NC_000011.10:60206474:ATATATATATATAT:ATATATATAT,NC_000011.10:60206474:ATATATATATATAT:ATATATATATAT,NC_000011.10:60206474:ATATATATATATAT:ATATATATATATATAT,NC_000011.10:60206474:ATATATATATATAT:ATATATATATATATATAT,NC_000011.10:60206474:ATATATATATATAT:ATATATATATATATATATAT,NC_000011.10:60206474:ATATATATATATAT:ATATATATATATATATATATAT
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
-=0.33103/192 (NorthernSweden)
-=0.35391/625 (Korea1K)
HGVS:: NC_000011.10:g.60206475AT[5], NC_000011.10:g.60206475AT[6], NC_000011.10:g.60206475AT[8], NC_000011.10:g.60206475AT[9], NC_000011.10:g.60206475AT[10], NC_000011.10:g.60206475AT[11], NC_000011.9:g.59973948AT[5], NC_000011.9:g.59973948AT[6], NC_000011.9:g.59973948AT[8], NC_000011.9:g.59973948AT[9], NC_000011.9:g.59973948AT[10], NC_000011.9:g.59973948AT[11]

Select item 14911632577.

rs1491163257 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 11:60206500 (GRCh38)
11:59973973 (GRCh37)
Canonical SPDI:: NC_000011.10:60206499:CG:
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00194/23 (ALFA)
-=0.00068/44 (GnomAD)
-=0.0034/54 (TOMMO)
HGVS:: NC_000011.10:g.60206500_60206501del, NC_000011.9:g.59973973_59973974del

Select item 14911220228.

rs1491122022 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:60200923 (GRCh38)
11:59968396 (GRCh37)
Canonical SPDI:: NC_000011.10:60200922:AC:
Gene:: MS4A4E (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60200923_60200924del, NC_000011.9:g.59968396_59968397del, NM_001393391.1:c.*619_*620del

Select item 14911019459.

rs1491101945 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACACACACACACAC [Show Flanks]
Chromosome:: 11:60232285 (GRCh38)
11:59999759 (GRCh37)
Canonical SPDI:: NC_000011.10:60232285:CACACACACACACACACAC:CACACACACACACACACACGCACACACACACACACACAC
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACACACACACGCACACACACACACACACAC=0./0 (ALFA)
CACACACACACACACACACG=0.00009/1 (GnomAD)
HGVS:: NC_000011.10:g.60232286_60232304CA[9]CGCACACACACACACACACAC[1], NC_000011.9:g.59999759_59999777CA[9]CGCACACACACACACACACAC[1]

Select item 149109628610.

rs1491096286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:60238437 (GRCh38)
11:60005910 (GRCh37)
Canonical SPDI:: NC_000011.10:60238434:ATAT:AT
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60238435AT[1], NC_000011.9:g.60005908AT[1]

Select item 149108370211.

rs1491083702 has merged into rs10696106 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 11:60206526 (GRCh38)
11:59973999 (GRCh37)
Canonical SPDI:: NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACA,NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACACA,NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACACACACACA,NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:60206512:ACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000011.10:g.60206514CA[6], NC_000011.10:g.60206514CA[7], NC_000011.10:g.60206514CA[9], NC_000011.10:g.60206514CA[10], NC_000011.10:g.60206514CA[11], NC_000011.10:g.60206514CA[12], NC_000011.9:g.59973987CA[6], NC_000011.9:g.59973987CA[7], NC_000011.9:g.59973987CA[9], NC_000011.9:g.59973987CA[10], NC_000011.9:g.59973987CA[11], NC_000011.9:g.59973987CA[12]

Select item 149095655812.

rs1490956558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60237546 (GRCh38)
11:60005019 (GRCh37)
Canonical SPDI:: NC_000011.10:60237545:A:G
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60237546A>G, NC_000011.9:g.60005019A>G

Select item 149086405113.

rs1490864051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60238028 (GRCh38)
11:60005501 (GRCh37)
Canonical SPDI:: NC_000011.10:60238027:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000072/10 (GnomAD)
HGVS:: NC_000011.10:g.60238028C>T, NC_000011.9:g.60005501C>T

Select item 149082343514.

rs1490823435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60206522 (GRCh38)
11:59973995 (GRCh37)
Canonical SPDI:: NC_000011.10:60206521:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.60206522C>T, NC_000011.9:g.59973995C>T

Select item 149082013015.

rs1490820130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60200896 (GRCh38)
11:59968369 (GRCh37)
Canonical SPDI:: NC_000011.10:60200895:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000058/8 (GnomAD)
T=0.000344/1 (KOREAN)
T=0.000549/1 (Korea1K)
HGVS:: NC_000011.10:g.60200896C>T, NC_000011.9:g.59968369C>T, NM_001393391.1:c.*647G>A

Select item 149068208416.

rs1490682084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:60229443 (GRCh38)
11:59996916 (GRCh37)
Canonical SPDI:: NC_000011.10:60229442:C:A
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.60229443C>A, NC_000011.9:g.59996916C>A

Select item 149067071517.

rs1490670715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:60218762 (GRCh38)
11:59986235 (GRCh37)
Canonical SPDI:: NC_000011.10:60218761:G:C
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60218762G>C, NC_000011.9:g.59986235G>C

Select item 149061919018.

rs1490619190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60213987 (GRCh38)
11:59981460 (GRCh37)
Canonical SPDI:: NC_000011.10:60213986:C:T
Gene:: MS4A4E (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_000011.10:g.60213987C>T, NC_000011.9:g.59981460C>T

Select item 149057107219.

rs1490571072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60200801 (GRCh38)
11:59968274 (GRCh37)
Canonical SPDI:: NC_000011.10:60200800:T:C
Gene:: MS4A4E (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60200801T>C, NC_000011.9:g.59968274T>C, NM_001393391.1:c.*742A>G

Select item 149053333320.

rs1490533333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60216752 (GRCh38)
11:59984225 (GRCh37)
Canonical SPDI:: NC_000011.10:60216751:G:A
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000128/18 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.60216752G>A, NC_000011.9:g.59984225G>A

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