SNP Links for Gene (Select 105373100) - SNP

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Select item 14912235771.

rs1491223577 has merged into rs10691755 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 22:50736127 (GRCh38)
22:51174555 (GRCh37)
Canonical SPDI:: NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:50736116:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: LOC105373100 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3331/1668 (1000Genomes)
HGVS:: NC_000022.11:g.50736127_50736128del, NC_000022.11:g.50736128del, NC_000022.11:g.50736128dup, NC_000022.11:g.50736127_50736128dup, NC_000022.11:g.50736126_50736128dup, NC_000022.11:g.50736124_50736128dup, NC_000022.11:g.50736123_50736128dup, NC_000022.10:g.51174555_51174556del, NC_000022.10:g.51174556del, NC_000022.10:g.51174556dup, NC_000022.10:g.51174555_51174556dup, NC_000022.10:g.51174554_51174556dup, NC_000022.10:g.51174552_51174556dup, NC_000022.10:g.51174551_51174556dup, NW_015148969.2:g.72247_72248del, NW_015148969.2:g.72248del, NW_015148969.2:g.72248dup, NW_015148969.2:g.72247_72248dup, NW_015148969.2:g.72246_72248dup, NW_015148969.2:g.72244_72248dup, NW_015148969.2:g.72243_72248dup, NR_134637.1:n.1767_1768del, NR_134637.1:n.1768del, NR_134637.1:n.1768dup, NR_134637.1:n.1767_1768dup, NR_134637.1:n.1766_1768dup, NR_134637.1:n.1764_1768dup, NR_134637.1:n.1763_1768dup

Select item 14906979072.

rs1490697907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50738555 (GRCh38)
22:51176983 (GRCh37)
Canonical SPDI:: NC_000022.11:50738554:T:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000022.11:g.50738555T>C, NC_000022.10:g.51176983T>C, NW_015148969.2:g.74675T>C

Select item 14905365563.

rs1490536556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50738134 (GRCh38)
22:51176562 (GRCh37)
Canonical SPDI:: NC_000022.11:50738133:C:T
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50738134C>T, NC_000022.10:g.51176562C>T, NW_015148969.2:g.74254C>T, NR_134637.1:n.36G>A

Select item 14903256524.

rs1490325652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50736180 (GRCh38)
22:51174608 (GRCh37)
Canonical SPDI:: NC_000022.11:50736179:C:T
Gene:: LOC105373100 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.50736180C>T, NC_000022.10:g.51174608C>T, NW_015148969.2:g.72300C>T, NR_134637.1:n.1705G>A

Select item 14902082435.

rs1490208243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50738986 (GRCh38)
22:51177414 (GRCh37)
Canonical SPDI:: NC_000022.11:50738985:A:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,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_000022.11:g.50738986A>C, NC_000022.10:g.51177414A>C, NW_015148969.2:g.75106A>C

Select item 14894135736.

rs1489413573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:50737506 (GRCh38)
22:51175934 (GRCh37)
Canonical SPDI:: NC_000022.11:50737505:T:G
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_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_000022.11:g.50737506T>G, NC_000022.10:g.51175934T>G, NW_015148969.2:g.73626T>G, NR_134637.1:n.664A>C

Select item 14890587737.

rs1489058773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50739399 (GRCh38)
22:51177827 (GRCh37)
Canonical SPDI:: NC_000022.11:50739398:G:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50739399G>C, NC_000022.10:g.51177827G>C, NW_015148969.2:g.75519G>C, NM_001097.3:c.206G>C, NM_001097.2:c.206G>C, NP_001088.2:p.Arg69Thr

Select item 14884685228.

rs1488468522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50738500 (GRCh38)
22:51176928 (GRCh37)
Canonical SPDI:: NC_000022.11:50738499:A:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50738500A>C, NC_000022.10:g.51176928A>C, NW_015148969.2:g.74620A>C

Select item 14872636499.

rs1487263649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50736578 (GRCh38)
22:51175006 (GRCh37)
Canonical SPDI:: NC_000022.11:50736577:T:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_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_000022.11:g.50736578T>C, NC_000022.10:g.51175006T>C, NW_015148969.2:g.72698T>C, NR_134637.1:n.1307A>G

Select item 148715582510.

rs1487155825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50739486 (GRCh38)
22:51177914 (GRCh37)
Canonical SPDI:: NC_000022.11:50739485:G:A
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50739486G>A, NC_000022.10:g.51177914G>A, NW_015148969.2:g.75606G>A

Select item 148377254611.

rs1483772546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:50739806 (GRCh38)
22:51178235 (GRCh37)
Canonical SPDI:: NC_000022.11:50739806:AAAAA:AAAAAA
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50739811dup, NC_000022.10:g.51178239dup, NW_015148969.2:g.75931dup, NM_001097.3:c.399dup, NM_001097.2:c.399dup, NP_001088.2:p.Tyr134fs

Select item 148242056012.

rs1482420560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50737259 (GRCh38)
22:51175687 (GRCh37)
Canonical SPDI:: NC_000022.11:50737258:A:G
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000022.11:g.50737259A>G, NC_000022.10:g.51175687A>G, NW_015148969.2:g.73379A>G

Select item 148200853313.

rs1482008533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50739093 (GRCh38)
22:51177521 (GRCh37)
Canonical SPDI:: NC_000022.11:50739092:G:A
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50739093G>A, NC_000022.10:g.51177521G>A, NW_015148969.2:g.75213G>A

Select item 148136779814.

rs1481367798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50738645 (GRCh38)
22:51177073 (GRCh37)
Canonical SPDI:: NC_000022.11:50738644:C:T
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.50738645C>T, NC_000022.10:g.51177073C>T, NW_015148969.2:g.74765C>T

Select item 148106642215.

rs1481066422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50739353 (GRCh38)
22:51177781 (GRCh37)
Canonical SPDI:: NC_000022.11:50739352:T:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50739353T>C, NC_000022.10:g.51177781T>C, NW_015148969.2:g.75473T>C, NM_001097.3:c.160T>C, NM_001097.2:c.160T>C, NP_001088.2:p.Trp54Arg

Select item 148090808016.

rs1480908080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50738446 (GRCh38)
22:51176874 (GRCh37)
Canonical SPDI:: NC_000022.11:50738445:C:T
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.50738446C>T, NC_000022.10:g.51176874C>T, NW_015148969.2:g.74566C>T

Select item 148039666317.

rs1480396663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50740114 (GRCh38)
22:51178542 (GRCh37)
Canonical SPDI:: NC_000022.11:50740113:G:A
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50740114G>A, NC_000022.10:g.51178542G>A, NW_015148969.2:g.76234G>A

Select item 148037544218.

rs1480375442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50735570 (GRCh38)
22:51173998 (GRCh37)
Canonical SPDI:: NC_000022.11:50735569:G:A,NC_000022.11:50735569:G:C
Gene:: LOC105373100 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.50735570G>A, NC_000022.11:g.50735570G>C, NC_000022.10:g.51173998G>A, NC_000022.10:g.51173998G>C, NW_015148969.2:g.71689G>A, NW_015148969.2:g.71689G>C

Select item 147941856519.

rs1479418565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50739820 (GRCh38)
22:51178248 (GRCh37)
Canonical SPDI:: NC_000022.11:50739819:T:C
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50739820T>C, NC_000022.10:g.51178248T>C, NW_015148969.2:g.75940T>C, NM_001097.3:c.408T>C, NM_001097.2:c.408T>C

Select item 147908866320.

rs1479088663 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAGGAGAT>- [Show Flanks]
Chromosome:: 22:50736635 (GRCh38)
22:51175063 (GRCh37)
Canonical SPDI:: NC_000022.11:50736634:GGAGGAGAT:
Gene:: ACR (Varview), LOC105373100 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50736635_50736643del, NC_000022.10:g.51175063_51175071del, NW_015148969.2:g.72755_72763del, NR_134637.1:n.1242_1250del

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