SNP Links for Gene (Select 26502) - SNP

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Select item 14912630771.

rs1491263077 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:82485431 (GRCh38)
17:80443307 (GRCh37)
Canonical SPDI:: NC_000017.11:82485430:AG:
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.82485431_82485432del, NC_000017.10:g.80443307_80443308del

Select item 14910355172.

rs1491035517 has merged into rs35163925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:82480940 (GRCh38)
17:80438816 (GRCh37)
Canonical SPDI:: NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:82480930:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NARF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00011/29 (TOPMED)
-=0.396366/1985 (1000Genomes)
HGVS:: NC_000017.11:g.82480940_82480949del, NC_000017.11:g.82480941_82480949del, NC_000017.11:g.82480942_82480949del, NC_000017.11:g.82480943_82480949del, NC_000017.11:g.82480944_82480949del, NC_000017.11:g.82480945_82480949del, NC_000017.11:g.82480946_82480949del, NC_000017.11:g.82480947_82480949del, NC_000017.11:g.82480948_82480949del, NC_000017.11:g.82480949del, NC_000017.11:g.82480949dup, NC_000017.11:g.82480948_82480949dup, NC_000017.11:g.82480947_82480949dup, NC_000017.10:g.80438816_80438825del, NC_000017.10:g.80438817_80438825del, NC_000017.10:g.80438818_80438825del, NC_000017.10:g.80438819_80438825del, NC_000017.10:g.80438820_80438825del, NC_000017.10:g.80438821_80438825del, NC_000017.10:g.80438822_80438825del, NC_000017.10:g.80438823_80438825del, NC_000017.10:g.80438824_80438825del, NC_000017.10:g.80438825del, NC_000017.10:g.80438825dup, NC_000017.10:g.80438824_80438825dup, NC_000017.10:g.80438823_80438825dup

Select item 14909874653.

rs1490987465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82486438 (GRCh38)
17:80444314 (GRCh37)
Canonical SPDI:: NC_000017.11:82486437:G:A
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82486438G>A, NC_000017.10:g.80444314G>A

Select item 14909149664.

rs1490914966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAAAAA>- [Show Flanks]
Chromosome:: 17:82457026 (GRCh38)
17:80414902 (GRCh37)
Canonical SPDI:: NC_000017.11:82457013:AAAAACAAAAAAACAAAAAA:AAAAACAAAAAA
Gene:: NARF (Varview), NARF-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAACAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.82457018ACAAAAAA[1], NC_000017.10:g.80414894ACAAAAAA[1]

Select item 14909144695.

rs1490914469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82482965 (GRCh38)
17:80440841 (GRCh37)
Canonical SPDI:: NC_000017.11:82482964:T:C
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.82482965T>C, NC_000017.10:g.80440841T>C

Select item 14908451186.

rs1490845118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82469434 (GRCh38)
17:80427310 (GRCh37)
Canonical SPDI:: NC_000017.11:82469433:G:A,NC_000017.11:82469433:G:C
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82469434G>A, NC_000017.11:g.82469434G>C, NC_000017.10:g.80427310G>A, NC_000017.10:g.80427310G>C

Select item 14908205517.

rs1490820551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:82476329 (GRCh38)
17:80434205 (GRCh37)
Canonical SPDI:: NC_000017.11:82476328:A:T
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000017.11:g.82476329A>T, NC_000017.10:g.80434205A>T

Select item 14906795678.

rs1490679567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:82466612 (GRCh38)
17:80424488 (GRCh37)
Canonical SPDI:: NC_000017.11:82466611:C:G
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.82466612C>G, NC_000017.10:g.80424488C>G

Select item 14906298799.

rs1490629879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82464253 (GRCh38)
17:80422129 (GRCh37)
Canonical SPDI:: NC_000017.11:82464252:T:C
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.82464253T>C, NC_000017.10:g.80422129T>C

Select item 149060687310.

rs1490606873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82475809 (GRCh38)
17:80433685 (GRCh37)
Canonical SPDI:: NC_000017.11:82475808:C:T
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82475809C>T, NC_000017.10:g.80433685C>T

Select item 149046642911.

rs1490466429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:82463089 (GRCh38)
17:80420965 (GRCh37)
Canonical SPDI:: NC_000017.11:82463088:A:T
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82463089A>T, NC_000017.10:g.80420965A>T

Select item 149033969912.

rs1490339699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:82475827 (GRCh38)
17:80433703 (GRCh37)
Canonical SPDI:: NC_000017.11:82475826:A:C
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.82475827A>C, NC_000017.10:g.80433703A>C

Select item 149031457913.

rs1490314579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82482153 (GRCh38)
17:80440029 (GRCh37)
Canonical SPDI:: NC_000017.11:82482152:C:T
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82482153C>T, NC_000017.10:g.80440029C>T

Select item 149022393014.

rs1490223930 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:82489198 (GRCh38)
17:80447074 (GRCh37)
Canonical SPDI:: NC_000017.11:82489197:GGG:GG
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.82489200del, NC_000017.10:g.80447076del, XM_005256340.5:c.*1043del, XM_006722278.5:c.*1043del, XM_006722278.4:c.*1043del, XM_006722278.3:c.*1043del, NM_012336.4:c.*1043del, XM_011523541.3:c.*1043del, NM_001038618.3:c.*1043del, NM_001083608.2:c.*1043del, XM_047435747.1:c.*1043del

Select item 149018802915.

rs1490188029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82488379 (GRCh38)
17:80446255 (GRCh37)
Canonical SPDI:: NC_000017.11:82488378:T:C
Gene:: NARF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_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_000017.11:g.82488379T>C, NC_000017.10:g.80446255T>C, XM_005256340.5:c.*222T>C, XM_006722278.5:c.*222T>C, XM_006722278.4:c.*222T>C, XM_006722278.3:c.*222T>C, NM_012336.4:c.*222T>C, XM_011523541.3:c.*222T>C, NM_001038618.3:c.*222T>C, NM_001083608.2:c.*222T>C, XM_047435747.1:c.*222T>C

Select item 149001280016.

rs1490012800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:82465571 (GRCh38)
17:80423447 (GRCh37)
Canonical SPDI:: NC_000017.11:82465570:T:G
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000069/1 (ALFA)
G=0.000049/13 (TOPMED)
G=0.000086/12 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000017.11:g.82465571T>G, NC_000017.10:g.80423447T>G

Select item 148997589917.

rs1489975899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82462671 (GRCh38)
17:80420547 (GRCh37)
Canonical SPDI:: NC_000017.11:82462670:G:A,NC_000017.11:82462670:G:C
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000017.11:g.82462671G>A, NC_000017.11:g.82462671G>C, NC_000017.10:g.80420547G>A, NC_000017.10:g.80420547G>C

Select item 148973328018.

rs1489733280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82456673 (GRCh38)
17:80414549 (GRCh37)
Canonical SPDI:: NC_000017.11:82456672:G:A
Gene:: NARF (Varview), NARF-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82456673G>A, NC_000017.10:g.80414549G>A

Select item 148972946219.

rs1489729462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:82458913 (GRCh38)
17:80416789 (GRCh37)
Canonical SPDI:: NC_000017.11:82458912:G:A,NC_000017.11:82458912:G:T
Gene:: NARF (Varview), NARF-AS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.82458913G>A, NC_000017.11:g.82458913G>T, NC_000017.10:g.80416789G>A, NC_000017.10:g.80416789G>T, XM_011523541.3:c.-361G>A, XM_011523541.3:c.-361G>T, XM_011523541.2:c.-361G>A, XM_011523541.2:c.-361G>T, XM_011523541.1:c.-361G>A, XM_011523541.1:c.-361G>T

Select item 148969357620.

rs1489693576 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTGTAGGCATGCACCACTGAA>- [Show Flanks]
Chromosome:: 17:82468499 (GRCh38)
17:80426375 (GRCh37)
Canonical SPDI:: NC_000017.11:82468497:AACTGTAGGCATGCACCACTGAA:A
Gene:: NARF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82468499_82468520del, NC_000017.10:g.80426375_80426396del

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