SNP Links for Gene (Select 947) - SNP

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Select item 14914040611.

rs1491404061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:207894824 (GRCh38)
1:208068170 (GRCh37)
Canonical SPDI:: NC_000001.11:207894824:G:GG
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.207894825dup, NC_000001.10:g.208068170dup

Select item 14913475952.

rs1491347595 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:207894826 (GRCh38)
1:208068171 (GRCh37)
Canonical SPDI:: NC_000001.11:207894823:AGAG:AG
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.207894824AG[1], NC_000001.10:g.208068169AG[1]

Select item 14912200183.

rs1491220018 has merged into rs3043874 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:207889766 (GRCh38)
1:208063111 (GRCh37)
Canonical SPDI:: NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:207889755:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.1559/400 (1000Genomes)
-=0.4045/1500 (TWINSUK)
-=0.4242/1635 (ALSPAC)
HGVS:: NC_000001.11:g.207889766_207889767del, NC_000001.11:g.207889767del, NC_000001.11:g.207889767dup, NC_000001.11:g.207889766_207889767dup, NC_000001.11:g.207889765_207889767dup, NC_000001.11:g.207889764_207889767dup, NC_000001.10:g.208063111_208063112del, NC_000001.10:g.208063112del, NC_000001.10:g.208063112dup, NC_000001.10:g.208063111_208063112dup, NC_000001.10:g.208063110_208063112dup, NC_000001.10:g.208063109_208063112dup

Select item 14909789194.

rs1490978919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207888443 (GRCh38)
1:208061788 (GRCh37)
Canonical SPDI:: NC_000001.11:207888442:A:G
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207888443A>G, NC_000001.10:g.208061788A>G

Select item 14908727915.

rs1490872791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207887295 (GRCh38)
1:208060640 (GRCh37)
Canonical SPDI:: NC_000001.11:207887294:C:T
Gene:: CD34 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207887295C>T, NC_000001.10:g.208060640C>T, NM_001773.3:c.*809G>A, NM_001773.2:c.*809G>A, NM_001025109.2:c.*443G>A, NM_001025109.1:c.*443G>A

Select item 14904007736.

rs1490400773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:207897085 (GRCh38)
1:208070430 (GRCh37)
Canonical SPDI:: NC_000001.11:207897084:T:G
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207897085T>G, NC_000001.10:g.208070430T>G

Select item 14903868757.

rs1490386875 has merged into rs60024563 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT [Show Flanks]
Chromosome:: 1:207898055 (GRCh38)
1:208071400 (GRCh37)
Canonical SPDI:: NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000001.11:207898031:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTTATTTATTT=0./0 (ALFA)
TTTATTTA=0.2945/1475 (1000Genomes)
HGVS:: NC_000001.11:g.207898035ATTT[5], NC_000001.11:g.207898035ATTT[6], NC_000001.11:g.207898035ATTT[7], NC_000001.11:g.207898035ATTT[8], NC_000001.11:g.207898035ATTT[10], NC_000001.11:g.207898035ATTT[11], NC_000001.11:g.207898035ATTT[12], NC_000001.11:g.207898035ATTT[13], NC_000001.11:g.207898035ATTT[14], NC_000001.11:g.207898035ATTT[15], NC_000001.10:g.208071380ATTT[5], NC_000001.10:g.208071380ATTT[6], NC_000001.10:g.208071380ATTT[7], NC_000001.10:g.208071380ATTT[8], NC_000001.10:g.208071380ATTT[10], NC_000001.10:g.208071380ATTT[11], NC_000001.10:g.208071380ATTT[12], NC_000001.10:g.208071380ATTT[13], NC_000001.10:g.208071380ATTT[14], NC_000001.10:g.208071380ATTT[15]

Select item 14902107508.

rs1490210750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:207908625 (GRCh38)
1:208081970 (GRCh37)
Canonical SPDI:: NC_000001.11:207908624:C:A,NC_000001.11:207908624:C:G
Gene:: CD34 (Varview), LOC107985253 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207908625C>A, NC_000001.11:g.207908625C>G, NC_000001.10:g.208081970C>A, NC_000001.10:g.208081970C>G

Select item 14899104449.

rs1489910444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207897599 (GRCh38)
1:208070944 (GRCh37)
Canonical SPDI:: NC_000001.11:207897598:A:G
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207897599A>G, NC_000001.10:g.208070944A>G

Select item 148985850210.

rs1489858502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:207889976 (GRCh38)
1:208063321 (GRCh37)
Canonical SPDI:: NC_000001.11:207889975:G:C
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.207889976G>C, NC_000001.10:g.208063321G>C

Select item 148978868111.

rs1489788681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:207891286 (GRCh38)
1:208064631 (GRCh37)
Canonical SPDI:: NC_000001.11:207891285:T:A,NC_000001.11:207891285:T:C
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000106/2 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.207891286T>A, NC_000001.11:g.207891286T>C, NC_000001.10:g.208064631T>A, NC_000001.10:g.208064631T>C

Select item 148971950712.

rs1489719507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:207904947 (GRCh38)
1:208078292 (GRCh37)
Canonical SPDI:: NC_000001.11:207904946:A:T
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207904947A>T, NC_000001.10:g.208078292A>T

Select item 148959058313.

rs1489590583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207889123 (GRCh38)
1:208062468 (GRCh37)
Canonical SPDI:: NC_000001.11:207889122:G:A
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207889123G>A, NC_000001.10:g.208062468G>A

Select item 148954920714.

rs1489549207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207888235 (GRCh38)
1:208061580 (GRCh37)
Canonical SPDI:: NC_000001.11:207888234:G:A
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.207888235G>A, NC_000001.10:g.208061580G>A

Select item 148935032015.

rs1489350320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:207899594 (GRCh38)
1:208072939 (GRCh37)
Canonical SPDI:: NC_000001.11:207899593:T:A
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207899594T>A, NC_000001.10:g.208072939T>A

Select item 148916799916.

rs1489167999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207892140 (GRCh38)
1:208065485 (GRCh37)
Canonical SPDI:: NC_000001.11:207892139:A:G
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.207892140A>G, NC_000001.10:g.208065485A>G

Select item 148874404617.

rs1488744046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207891711 (GRCh38)
1:208065056 (GRCh37)
Canonical SPDI:: NC_000001.11:207891710:G:A
Gene:: CD34 (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_000001.11:g.207891711G>A, NC_000001.10:g.208065056G>A

Select item 148866192218.

rs1488661922 [Homo sapiens]

Variant type:: DEL
Alleles:: TCC>- [Show Flanks]
Chromosome:: 1:207889748 (GRCh38)
1:208063093 (GRCh37)
Canonical SPDI:: NC_000001.11:207889747:TCC:
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207889748_207889750del, NC_000001.10:g.208063093_208063095del

Select item 148844767419.

rs1488447674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207908017 (GRCh38)
1:208081362 (GRCh37)
Canonical SPDI:: NC_000001.11:207908016:C:T
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207908017C>T, NC_000001.10:g.208081362C>T

Select item 148800396820.

rs1488003968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:207901245 (GRCh38)
1:208074590 (GRCh37)
Canonical SPDI:: NC_000001.11:207901244:G:A,NC_000001.11:207901244:G:C
Gene:: CD34 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207901245G>A, NC_000001.11:g.207901245G>C, NC_000001.10:g.208074590G>A, NC_000001.10:g.208074590G>C

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