SNP Links for Gene (Select 442903) - SNP

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Select item 14914438171.

rs1491443817 has merged into rs35321521 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAACAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95307709 (GRCh38)
12:95701485 (GRCh37)
Canonical SPDI:: NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95307700:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAACAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000012.12:g.95307709_95307723del, NC_000012.12:g.95307710_95307723del, NC_000012.12:g.95307711_95307723del, NC_000012.12:g.95307712_95307723del, NC_000012.12:g.95307713_95307723del, NC_000012.12:g.95307714_95307723del, NC_000012.12:g.95307715_95307723del, NC_000012.12:g.95307716_95307723del, NC_000012.12:g.95307717_95307723del, NC_000012.12:g.95307718_95307723del, NC_000012.12:g.95307719_95307723del, NC_000012.12:g.95307720_95307723del, NC_000012.12:g.95307721_95307723del, NC_000012.12:g.95307722_95307723del, NC_000012.12:g.95307723del, NC_000012.12:g.95307723dup, NC_000012.12:g.95307722_95307723dup, NC_000012.12:g.95307721_95307723dup, NC_000012.12:g.95307720_95307723dup, NC_000012.12:g.95307719_95307723dup, NC_000012.12:g.95307716_95307723dup, NC_000012.12:g.95307715_95307723dup, NC_000012.12:g.95307723_95307724insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95307723_95307724insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95307723_95307724insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95307701_95307723A[27]GAAAAAACAAATAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.95701485_95701499del, NC_000012.11:g.95701486_95701499del, NC_000012.11:g.95701487_95701499del, NC_000012.11:g.95701488_95701499del, NC_000012.11:g.95701489_95701499del, NC_000012.11:g.95701490_95701499del, NC_000012.11:g.95701491_95701499del, NC_000012.11:g.95701492_95701499del, NC_000012.11:g.95701493_95701499del, NC_000012.11:g.95701494_95701499del, NC_000012.11:g.95701495_95701499del, NC_000012.11:g.95701496_95701499del, NC_000012.11:g.95701497_95701499del, NC_000012.11:g.95701498_95701499del, NC_000012.11:g.95701499del, NC_000012.11:g.95701499dup, NC_000012.11:g.95701498_95701499dup, NC_000012.11:g.95701497_95701499dup, NC_000012.11:g.95701496_95701499dup, NC_000012.11:g.95701495_95701499dup, NC_000012.11:g.95701492_95701499dup, NC_000012.11:g.95701491_95701499dup, NC_000012.11:g.95701499_95701500insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95701499_95701500insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95701499_95701500insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95701477_95701499A[27]GAAAAAACAAATAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914403662.

rs1491440366 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95307700 (GRCh38)
12:95701476 (GRCh37)
Canonical SPDI:: NC_000012.12:95307699:CA:
Gene:: MIR331 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000012.12:g.95307700_95307701del, NC_000012.11:g.95701476_95701477del

Select item 14864065323.

rs1486406532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95307886 (GRCh38)
12:95701662 (GRCh37)
Canonical SPDI:: NC_000012.12:95307885:A:G
Gene:: MIR331 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.95307886A>G, NC_000012.11:g.95701662A>G

Select item 14857912084.

rs1485791208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:95308256 (GRCh38)
12:95702032 (GRCh37)
Canonical SPDI:: NC_000012.12:95308255:A:C
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.95308256A>C, NC_000012.11:g.95702032A>C

Select item 14855975385.

rs1485597538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:95306847 (GRCh38)
12:95700623 (GRCh37)
Canonical SPDI:: NC_000012.12:95306846:C:A
Gene:: MIR331 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.06092/178 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.95306847C>A, NC_000012.11:g.95700623C>A

Select item 14855096676.

rs1485509667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95306527 (GRCh38)
12:95700303 (GRCh37)
Canonical SPDI:: NC_000012.12:95306526:G:A
Gene:: MIR331 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.95306527G>A, NC_000012.11:g.95700303G>A

Select item 14847961067.

rs1484796106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:95307035 (GRCh38)
12:95700811 (GRCh37)
Canonical SPDI:: NC_000012.12:95307034:C:G,NC_000012.12:95307034:C:T
Gene:: MIR331 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95307035C>G, NC_000012.12:g.95307035C>T, NC_000012.11:g.95700811C>G, NC_000012.11:g.95700811C>T

Select item 14821396518.

rs1482139651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95306573 (GRCh38)
12:95700349 (GRCh37)
Canonical SPDI:: NC_000012.12:95306572:G:A
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.95306573G>A, NC_000012.11:g.95700349G>A

Select item 14803682439.

rs1480368243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95307001 (GRCh38)
12:95700777 (GRCh37)
Canonical SPDI:: NC_000012.12:95307000:A:G
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.95307001A>G, NC_000012.11:g.95700777A>G

Select item 148000079710.

rs1480000797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:95307172 (GRCh38)
12:95700948 (GRCh37)
Canonical SPDI:: NC_000012.12:95307171:C:A
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95307172C>A, NC_000012.11:g.95700948C>A

Select item 147609548911.

rs1476095489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95307136 (GRCh38)
12:95700912 (GRCh37)
Canonical SPDI:: NC_000012.12:95307135:C:T
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95307136C>T, NC_000012.11:g.95700912C>T

Select item 147576583512.

rs1475765835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:95308028 (GRCh38)
12:95701804 (GRCh37)
Canonical SPDI:: NC_000012.12:95308027:A:C,NC_000012.12:95308027:A:G
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.95308028A>C, NC_000012.12:g.95308028A>G, NC_000012.11:g.95701804A>C, NC_000012.11:g.95701804A>G

Select item 147499564913.

rs1474995649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:95307637 (GRCh38)
12:95701413 (GRCh37)
Canonical SPDI:: NC_000012.12:95307636:T:C,NC_000012.12:95307636:T:G
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
G=0.007096/13 (Korea1K)
HGVS:: NC_000012.12:g.95307637T>C, NC_000012.12:g.95307637T>G, NC_000012.11:g.95701413T>C, NC_000012.11:g.95701413T>G

Select item 147340959114.

rs1473409591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:95306505 (GRCh38)
12:95700281 (GRCh37)
Canonical SPDI:: NC_000012.12:95306504:A:C
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95306505A>C, NC_000012.11:g.95700281A>C

Select item 147263336215.

rs1472633362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:95308324 (GRCh38)
12:95702100 (GRCh37)
Canonical SPDI:: NC_000012.12:95308323:C:A,NC_000012.12:95308323:C:T
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95308324C>A, NC_000012.12:g.95308324C>T, NC_000012.11:g.95702100C>A, NC_000012.11:g.95702100C>T

Select item 147172805616.

rs1471728056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:95306656 (GRCh38)
12:95700432 (GRCh37)
Canonical SPDI:: NC_000012.12:95306655:C:A,NC_000012.12:95306655:C:T
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95306656C>A, NC_000012.12:g.95306656C>T, NC_000012.11:g.95700432C>A, NC_000012.11:g.95700432C>T

Select item 147084740617.

rs1470847406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:95307976 (GRCh38)
12:95701752 (GRCh37)
Canonical SPDI:: NC_000012.12:95307975:G:C
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95307976G>C, NC_000012.11:g.95701752G>C

Select item 146605917818.

rs1466059178 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:95308175 (GRCh38)
12:95701951 (GRCh37)
Canonical SPDI:: NC_000012.12:95308174:AAA:AA
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000012.12:g.95308177del, NC_000012.11:g.95701953del

Select item 146422332619.

rs1464223326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95307632 (GRCh38)
12:95701408 (GRCh37)
Canonical SPDI:: NC_000012.12:95307631:G:A
Gene:: MIR331 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000061/1 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.95307632G>A, NC_000012.11:g.95701408G>A

Select item 146389190220.

rs1463891902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95308721 (GRCh38)
12:95702497 (GRCh37)
Canonical SPDI:: NC_000012.12:95308720:A:G
Gene:: MIR331 (Varview), MIR3685 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.95308721A>G, NC_000012.11:g.95702497A>G

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