SNP Links for Gene (Select 49) - SNP

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Select item 14914699961.

rs1491469996 has merged into rs71318831 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 22:50742557 (GRCh38)
22:51180985 (GRCh37)
Canonical SPDI:: NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50742543:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.4455/2231 (1000Genomes)
HGVS:: NC_000022.11:g.50742557_50742563del, NC_000022.11:g.50742558_50742563del, NC_000022.11:g.50742559_50742563del, NC_000022.11:g.50742560_50742563del, NC_000022.11:g.50742561_50742563del, NC_000022.11:g.50742562_50742563del, NC_000022.11:g.50742563del, NC_000022.11:g.50742563dup, NC_000022.11:g.50742562_50742563dup, NC_000022.11:g.50742561_50742563dup, NC_000022.10:g.51180985_51180991del, NC_000022.10:g.51180986_51180991del, NC_000022.10:g.51180987_51180991del, NC_000022.10:g.51180988_51180991del, NC_000022.10:g.51180989_51180991del, NC_000022.10:g.51180990_51180991del, NC_000022.10:g.51180991del, NC_000022.10:g.51180991dup, NC_000022.10:g.51180990_51180991dup, NC_000022.10:g.51180989_51180991dup, NW_015148969.2:g.78674_78678dup, NW_015148969.2:g.78677_78678del, NW_015148969.2:g.78678del, NW_015148969.2:g.78678dup, NW_015148969.2:g.78677_78678dup, NW_015148969.2:g.78676_78678dup, NW_015148969.2:g.78675_78678dup, NW_015148969.2:g.78673_78678dup, NW_015148969.2:g.78672_78678dup, NW_015148969.2:g.78671_78678dup

Select item 14912775102.

rs1491277510 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:50742543 (GRCh38)
22:51180971 (GRCh37)
Canonical SPDI:: NC_000022.11:50742542:CA:
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000022.11:g.50742543_50742544del, NC_000022.10:g.51180971_51180972del, NW_015148969.2:g.78678dup, NW_015148969.2:g.78663del

Select item 14906979073.

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 14905365564.

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 14904498415.

rs1490449841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:50745514 (GRCh38)
22:51183942 (GRCh37)
Canonical SPDI:: NC_000022.11:50745513:C:A,NC_000022.11:50745513:C:T
Gene:: ACR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000178/25 (GnomAD)
T=0.000227/60 (TOPMED)
HGVS:: NC_000022.11:g.50745514C>A, NC_000022.11:g.50745514C>T, NC_000022.10:g.51183942C>A, NC_000022.10:g.51183942C>T, NW_015148969.2:g.81628C>A, NW_015148969.2:g.81628C>T

Select item 14902082436.

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 14898235287.

rs1489823528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50745505 (GRCh38)
22:51183933 (GRCh37)
Canonical SPDI:: NC_000022.11:50745504:G:T
Gene:: ACR (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000057/15 (TOPMED)
HGVS:: NC_000022.11:g.50745505G>T, NC_000022.10:g.51183933G>T, NW_015148969.2:g.81619G>T

Select item 14894135738.

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 14890587739.

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 148850199710.

rs1488501997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:50742568 (GRCh38)
22:51180996 (GRCh37)
Canonical SPDI:: NC_000022.11:50742567:C:A,NC_000022.11:50742567:C:G
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50742568C>A, NC_000022.11:g.50742568C>G, NC_000022.10:g.51180996C>A, NC_000022.10:g.51180996C>G, NW_015148969.2:g.78683C>A, NW_015148969.2:g.78683C>G

Select item 148849022911.

rs1488490229 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 22:50743317 (GRCh38)
22:51181745 (GRCh37)
Canonical SPDI:: NC_000022.11:50743316:G:
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.50743317del, NC_000022.10:g.51181745del, NW_015148969.2:g.79431del

Select item 148846852212.

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 148805813913.

rs1488058139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:50743272 (GRCh38)
22:51181700 (GRCh37)
Canonical SPDI:: NC_000022.11:50743271:T:A
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.50743272T>A, NC_000022.10:g.51181700T>A, NW_015148969.2:g.79386T>A

Select item 148795357314.

rs1487953573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50743990 (GRCh38)
22:51182418 (GRCh37)
Canonical SPDI:: NC_000022.11:50743989:G:A,NC_000022.11:50743989:G:C
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.50743990G>A, NC_000022.11:g.50743990G>C, NC_000022.10:g.51182418G>A, NC_000022.10:g.51182418G>C, NW_015148969.2:g.80104G>A, NW_015148969.2:g.80104G>C

Select item 148779382515.

rs1487793825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50744397 (GRCh38)
22:51182825 (GRCh37)
Canonical SPDI:: NC_000022.11:50744396:C:T
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.50744397C>T, NC_000022.10:g.51182825C>T, NW_015148969.2:g.80511C>T

Select item 148774466016.

rs1487744660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50740316 (GRCh38)
22:51178744 (GRCh37)
Canonical SPDI:: NC_000022.11:50740315:C:T
Gene:: ACR (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_000022.11:g.50740316C>T, NC_000022.10:g.51178744C>T, NW_015148969.2:g.76436C>T

Select item 148763017917.

rs1487630179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50743516 (GRCh38)
22:51181944 (GRCh37)
Canonical SPDI:: NC_000022.11:50743515:C:A
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.50743516C>A, NC_000022.10:g.51181944C>A, NW_015148969.2:g.79630C>A

Select item 148760586618.

rs1487605866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50743985 (GRCh38)
22:51182413 (GRCh37)
Canonical SPDI:: NC_000022.11:50743984:G:A
Gene:: ACR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50743985G>A, NC_000022.10:g.51182413G>A, NW_015148969.2:g.80099G>A

Select item 148735416619.

rs1487354166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:50744167 (GRCh38)
22:51182595 (GRCh37)
Canonical SPDI:: NC_000022.11:50744166:G:A,NC_000022.11:50744166:G:C,NC_000022.11:50744166:G:T
Gene:: ACR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50744167G>A, NC_000022.11:g.50744167G>C, NC_000022.11:g.50744167G>T, NC_000022.10:g.51182595G>A, NC_000022.10:g.51182595G>C, NC_000022.10:g.51182595G>T, NW_015148969.2:g.80281G>A, NW_015148969.2:g.80281G>C, NW_015148969.2:g.80281G>T, NM_001097.3:c.672G>A, NM_001097.3:c.672G>C, NM_001097.3:c.672G>T, NM_001097.2:c.672G>A, NM_001097.2:c.672G>C, NM_001097.2:c.672G>T

Select item 148726364920.

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

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