SNP Links for Gene (Select 8512) - SNP

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Select item 14908291041.

rs1490829104 [Homo sapiens]

Variant type:: DEL
Alleles:: TGATCTAACTCTCA>- [Show Flanks]
Chromosome:: 10:79920128 (GRCh38)
10:81679884 (GRCh37)
Canonical SPDI:: NC_000010.11:79920127:TGATCTAACTCTCA:
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.79920128_79920141del, NC_000010.10:g.81679884_81679897del

Select item 14908032102.

rs1490803210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:79918962 (GRCh38)
10:81678718 (GRCh37)
Canonical SPDI:: NC_000010.11:79918961:A:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000142/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000010.11:g.79918962A>T, NC_000010.10:g.81678718A>T

Select item 14906405333.

rs1490640533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79919521 (GRCh38)
10:81679277 (GRCh37)
Canonical SPDI:: NC_000010.11:79919520:A:G
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79919521A>G, NC_000010.10:g.81679277A>G

Select item 14902803714.

rs1490280371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79919662 (GRCh38)
10:81679418 (GRCh37)
Canonical SPDI:: NC_000010.11:79919661:T:C
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79919662T>C, NC_000010.10:g.81679418T>C

Select item 14893133155.

rs1489313315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:79918192 (GRCh38)
10:81677948 (GRCh37)
Canonical SPDI:: NC_000010.11:79918191:A:G,NC_000010.11:79918191:A:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79918192A>G, NC_000010.11:g.79918192A>T, NC_000010.10:g.81677948A>G, NC_000010.10:g.81677948A>T

Select item 14889325716.

rs1488932571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79922528 (GRCh38)
10:81682284 (GRCh37)
Canonical SPDI:: NC_000010.11:79922527:A:G
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79922528A>G, NC_000010.10:g.81682284A>G

Select item 14872158637.

rs1487215863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79922695 (GRCh38)
10:81682451 (GRCh37)
Canonical SPDI:: NC_000010.11:79922694:A:G
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.79922695A>G, NC_000010.10:g.81682451A>G, NR_002724.2:n.1000A>G

Select item 14864774178.

rs1486477417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79923186 (GRCh38)
10:81682942 (GRCh37)
Canonical SPDI:: NC_000010.11:79923185:G:A
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79923186G>A, NC_000010.10:g.81682942G>A

Select item 14860566029.

rs1486056602 [Homo sapiens]

Variant type:: DEL
Alleles:: GACCTTATG>- [Show Flanks]
Chromosome:: 10:79919085 (GRCh38)
10:81678841 (GRCh37)
Canonical SPDI:: NC_000010.11:79919084:GACCTTATG:
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79919085_79919093del, NC_000010.10:g.81678841_81678849del

Select item 148582583510.

rs1485825835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79922309 (GRCh38)
10:81682065 (GRCh37)
Canonical SPDI:: NC_000010.11:79922308:C:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.79922309C>T, NC_000010.10:g.81682065C>T

Select item 148540811411.

rs1485408114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:79918202 (GRCh38)
10:81677958 (GRCh37)
Canonical SPDI:: NC_000010.11:79918201:G:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.79918202G>T, NC_000010.10:g.81677958G>T

Select item 148499249812.

rs1484992498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79922386 (GRCh38)
10:81682142 (GRCh37)
Canonical SPDI:: NC_000010.11:79922385:G:A
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79922386G>A, NC_000010.10:g.81682142G>A

Select item 148492143313.

rs1484921433 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:79923431 (GRCh38)
10:81683187 (GRCh37)
Canonical SPDI:: NC_000010.11:79923430:G:
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79923431del, NC_000010.10:g.81683187del

Select item 148481001814.

rs1484810018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79923285 (GRCh38)
10:81683041 (GRCh37)
Canonical SPDI:: NC_000010.11:79923284:G:A
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.79923285G>A, NC_000010.10:g.81683041G>A

Select item 148423377015.

rs1484233770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79920444 (GRCh38)
10:81680200 (GRCh37)
Canonical SPDI:: NC_000010.11:79920443:C:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.79920444C>T, NC_000010.10:g.81680200C>T, NR_002724.2:n.267C>T

Select item 148378414016.

rs1483784140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79920067 (GRCh38)
10:81679823 (GRCh37)
Canonical SPDI:: NC_000010.11:79920066:G:A
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.79920067G>A, NC_000010.10:g.81679823G>A

Select item 148377695117.

rs1483776951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79922461 (GRCh38)
10:81682217 (GRCh37)
Canonical SPDI:: NC_000010.11:79922460:T:C
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.79922461T>C, NC_000010.10:g.81682217T>C

Select item 148278117118.

rs1482781171 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148252650919.

rs1482526509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79921433 (GRCh38)
10:81681189 (GRCh37)
Canonical SPDI:: NC_000010.11:79921432:G:A
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79921433G>A, NC_000010.10:g.81681189G>A

Select item 148175138120.

rs1481751381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79923472 (GRCh38)
10:81683228 (GRCh37)
Canonical SPDI:: NC_000010.11:79923471:C:T
Gene:: MBL1P (Varview), BMS1P21 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000010.11:g.79923472C>T, NC_000010.10:g.81683228C>T

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