SNP Links for Gene (Select 255231) - SNP

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Select item 14915617321.

rs1491561732 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:84992760 (GRCh38)
1:85458443 (GRCh37)
Canonical SPDI:: NC_000001.11:84992759:CC:
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0955/368 (ALSPAC)
-=0.0992/368 (TWINSUK)
HGVS:: NC_000001.11:g.84992760_84992761del, NC_000001.10:g.85458443_85458444del

Select item 14915335302.

rs1491533530 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:84987594 (GRCh38)
1:85453277 (GRCh37)
Canonical SPDI:: NC_000001.11:84987592:TGT:T
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.84987594_84987595del, NC_000001.10:g.85453277_85453278del

Select item 14914865603.

rs1491486560 has merged into rs138750958 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:84953561 (GRCh38)
1:85419244 (GRCh37)
Canonical SPDI:: NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84953550:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0804/310 (ALSPAC)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.84953561_84953568del, NC_000001.11:g.84953564_84953568del, NC_000001.11:g.84953565_84953568del, NC_000001.11:g.84953566_84953568del, NC_000001.11:g.84953567_84953568del, NC_000001.11:g.84953568del, NC_000001.11:g.84953568dup, NC_000001.11:g.84953567_84953568dup, NC_000001.11:g.84953565_84953568dup, NC_000001.11:g.84953564_84953568dup, NC_000001.11:g.84953563_84953568dup, NC_000001.11:g.84953562_84953568dup, NC_000001.10:g.85419244_85419251del, NC_000001.10:g.85419247_85419251del, NC_000001.10:g.85419248_85419251del, NC_000001.10:g.85419249_85419251del, NC_000001.10:g.85419250_85419251del, NC_000001.10:g.85419251del, NC_000001.10:g.85419251dup, NC_000001.10:g.85419250_85419251dup, NC_000001.10:g.85419248_85419251dup, NC_000001.10:g.85419247_85419251dup, NC_000001.10:g.85419246_85419251dup, NC_000001.10:g.85419245_85419251dup

Select item 14914264764.

rs1491426476 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAC,TACC,TACCTATATACG,TACCTATATT [Show Flanks]
Chromosome:: 1:84987498 (GRCh38)
1:85453182 (GRCh37)
Canonical SPDI:: NC_000001.11:84987498::TAC,NC_000001.11:84987498::TACC,NC_000001.11:84987498::TACCTATATACG,NC_000001.11:84987498::TACCTATATT
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACC=0./0 (ALFA)
HGVS:: NC_000001.11:g.84987498_84987499insTAC, NC_000001.11:g.84987498_84987499insTACC, NC_000001.11:g.84987498_84987499insTACCTATATACG, NC_000001.11:g.84987498_84987499insTACCTATATT, NC_000001.10:g.85453181_85453182insTAC, NC_000001.10:g.85453181_85453182insTACC, NC_000001.10:g.85453181_85453182insTACCTATATACG, NC_000001.10:g.85453181_85453182insTACCTATATT

Select item 14914052915.

rs1491405291 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:84987471 (GRCh38)
1:85453154 (GRCh37)
Canonical SPDI:: NC_000001.11:84987469:AGA:A
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
-=0.00002/2 (GnomAD)
-=0.00007/2 (TOMMO)
HGVS:: NC_000001.11:g.84987471_84987472del, NC_000001.10:g.85453154_85453155del

Select item 14913968936.

rs1491396893 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TC [Show Flanks]
Chromosome:: 1:84987576 (GRCh38)
1:85453260 (GRCh37)
Canonical SPDI:: NC_000001.11:84987576::T,NC_000001.11:84987576::TC
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
T=0.00051/41 (GnomAD)
T=0.00099/14 (TOMMO)
HGVS:: NC_000001.11:g.84987576_84987577insT, NC_000001.11:g.84987576_84987577insTC, NC_000001.10:g.85453259_85453260insT, NC_000001.10:g.85453259_85453260insTC

Select item 14913676797.

rs1491367679 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:84987455 (GRCh38)
1:85453138 (GRCh37)
Canonical SPDI:: NC_000001.11:84987453:ACA:A
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000043/5 (GnomAD)
-=0.000072/2 (TOMMO)
HGVS:: NC_000001.11:g.84987455_84987456del, NC_000001.10:g.85453138_85453139del

Select item 14913462898.

rs1491346289 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:84987593 (GRCh38)
1:85453277 (GRCh37)
Canonical SPDI:: NC_000001.11:84987593::AG
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000001.11:g.84987593_84987594insAG, NC_000001.10:g.85453276_85453277insAG

Select item 14912148069.

rs1491214806 [Homo sapiens]

Variant type:: INS
Alleles:: ->TACATATATACATATAT,TACATATATACATATATACATATAT,TAT [Show Flanks]
Chromosome:: 1:84987470 (GRCh38)
1:85453154 (GRCh37)
Canonical SPDI:: NC_000001.11:84987470::TACATATATACATATAT,NC_000001.11:84987470::TACATATATACATATATACATATAT,NC_000001.11:84987470::TAT
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TAT=0./0 (GnomAD)
TACATATATACATATAT=0.00133/2 (Korea1K)
HGVS:: NC_000001.11:g.84987470_84987471insTACATATATACATATAT, NC_000001.11:g.84987470_84987471insTACATATATACATATATACATATAT, NC_000001.11:g.84987470_84987471insTAT, NC_000001.10:g.85453153_85453154insTACATATATACATATAT, NC_000001.10:g.85453153_85453154insTACATATATACATATATACATATAT, NC_000001.10:g.85453153_85453154insTAT

Select item 149116756310.

rs1491167563 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAGATATATT [Show Flanks]
Chromosome:: 1:84987454 (GRCh38)
1:85453138 (GRCh37)
Canonical SPDI:: NC_000001.11:84987454::TAGATATATT
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TAGATATATT=0.000043/5 (GnomAD)
HGVS:: NC_000001.11:g.84987454_84987455insTAGATATATT, NC_000001.10:g.85453137_85453138insTAGATATATT

Select item 149114730111.

rs1491147301 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:84987577 (GRCh38)
1:85453260 (GRCh37)
Canonical SPDI:: NC_000001.11:84987575:ACA:A
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00006/5 (GnomAD)
-=0.00007/2 (TOMMO)
HGVS:: NC_000001.11:g.84987577_84987578del, NC_000001.10:g.85453260_85453261del

Select item 149106856112.

rs1491068561 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:84987560 (GRCh38)
1:85453243 (GRCh37)
Canonical SPDI:: NC_000001.11:84987558:TGT:T
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.84987560_84987561del, NC_000001.10:g.85453243_85453244del

Select item 149104883913.

rs1491048839 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:84987553 (GRCh38)
1:85453236 (GRCh37)
Canonical SPDI:: NC_000001.11:84987551:ACA:A
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.84987553_84987554del, NC_000001.10:g.85453236_85453237del

Select item 149101022514.

rs1491010225 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAC,AC [Show Flanks]
Chromosome:: 1:84956163 (GRCh38)
1:85421847 (GRCh37)
Canonical SPDI:: NC_000001.11:84956163::AAC,NC_000001.11:84956163::AC
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
HGVS:: NC_000001.11:g.84956163_84956164insAAC, NC_000001.11:g.84956163_84956164insAC, NC_000001.10:g.85421846_85421847insAAC, NC_000001.10:g.85421846_85421847insAC

Select item 149096688415.

rs1490966884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:84978980 (GRCh38)
1:85444663 (GRCh37)
Canonical SPDI:: NC_000001.11:84978979:A:C
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84978980A>C, NC_000001.10:g.85444663A>C

Select item 149092811316.

rs1490928113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 1:84993681 (GRCh38)
1:85459365 (GRCh37)
Canonical SPDI:: NC_000001.11:84993681:CTGC:CTGCTGC
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTGCTGC=0.000084/1 (ALFA)
CTG=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.84993683_84993685dup, NC_000001.10:g.85459366_85459368dup

Select item 149090290317.

rs1490902903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:84949978 (GRCh38)
1:85415661 (GRCh37)
Canonical SPDI:: NC_000001.11:84949977:T:C,NC_000001.11:84949977:T:G
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.84949978T>C, NC_000001.11:g.84949978T>G, NC_000001.10:g.85415661T>C, NC_000001.10:g.85415661T>G

Select item 149089181018.

rs1490891810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:84993647 (GRCh38)
1:85459330 (GRCh37)
Canonical SPDI:: NC_000001.11:84993646:G:A,NC_000001.11:84993646:G:C,NC_000001.11:84993646:G:T
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.84993647G>A, NC_000001.11:g.84993647G>C, NC_000001.11:g.84993647G>T, NC_000001.10:g.85459330G>A, NC_000001.10:g.85459330G>C, NC_000001.10:g.85459330G>T

Select item 149082169319.

rs1490821693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:84987456 (GRCh38)
1:85453139 (GRCh37)
Canonical SPDI:: NC_000001.11:84987455:A:G
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.84987456A>G, NC_000001.10:g.85453139A>G

Select item 149081471120.

rs1490814711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:84966465 (GRCh38)
1:85432148 (GRCh37)
Canonical SPDI:: NC_000001.11:84966464:C:A,NC_000001.11:84966464:C:T
Gene:: MCOLN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000129/2 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000446/2 (Estonian)
A=0.000535/75 (GnomAD)
HGVS:: NC_000001.11:g.84966465C>A, NC_000001.11:g.84966465C>T, NC_000001.10:g.85432148C>A, NC_000001.10:g.85432148C>T

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