SNP Links for Nucleotide (Select 209977011) - SNP

Links from Nucleotide

Items: 1 to 20 of 3396

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Select item 14905796541.

rs1490579654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154617162 (GRCh38)
4:155538314 (GRCh37)
Canonical SPDI:: NC_000004.12:154617161:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.154617162T>C, NC_000004.11:g.155538314T>C, NG_008834.1:g.589A>G

Select item 14905282782.

rs1490528278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:154614670 (GRCh38)
4:155535822 (GRCh37)
Canonical SPDI:: NC_000004.12:154614669:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154614670G>T, NC_000004.11:g.155535822G>T, NG_008834.1:g.3081C>A

Select item 14903492233.

rs1490349223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:154609074 (GRCh38)
4:155530226 (GRCh37)
Canonical SPDI:: NC_000004.12:154609073:G:A,NC_000004.12:154609073:G:C
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154609074G>A, NC_000004.12:g.154609074G>C, NC_000004.11:g.155530226G>A, NC_000004.11:g.155530226G>C, NG_008834.1:g.8677C>T, NG_008834.1:g.8677C>G

Select item 14902480344.

rs1490248034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:154611160 (GRCh38)
4:155532312 (GRCh37)
Canonical SPDI:: NC_000004.12:154611159:G:A
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.154611160G>A, NC_000004.11:g.155532312G>A, NG_008834.1:g.6591C>T

Select item 14898591945.

rs1489859194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:154610260 (GRCh38)
4:155531412 (GRCh37)
Canonical SPDI:: NC_000004.12:154610259:A:G,NC_000004.12:154610259:A:T
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.154610260A>G, NC_000004.12:g.154610260A>T, NC_000004.11:g.155531412A>G, NC_000004.11:g.155531412A>T, NG_008834.1:g.7491T>C, NG_008834.1:g.7491T>A

Select item 14898102376.

rs1489810237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154609444 (GRCh38)
4:155530596 (GRCh37)
Canonical SPDI:: NC_000004.12:154609443:C:T
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.154609444C>T, NC_000004.11:g.155530596C>T, NG_008834.1:g.8307G>A

Select item 14891755207.

rs1489175520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:154608568 (GRCh38)
4:155529720 (GRCh37)
Canonical SPDI:: NC_000004.12:154608567:G:A
Gene:: FGG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154608568G>A, NC_000004.11:g.155529720G>A, NG_008834.1:g.9183C>T, NM_000509.6:c.749C>T, NM_000509.5:c.749C>T, NM_000509.4:c.749C>T, NM_021870.3:c.749C>T, NM_021870.2:c.749C>T, NP_000500.2:p.Thr250Ile, NP_068656.2:p.Thr250Ile

Select item 14891317748.

rs1489131774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154610103 (GRCh38)
4:155531255 (GRCh37)
Canonical SPDI:: NC_000004.12:154610102:T:C
Gene:: FGG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154610103T>C, NC_000004.11:g.155531255T>C, NG_008834.1:g.7648A>G, NM_000509.6:c.496A>G, NM_000509.5:c.496A>G, NM_000509.4:c.496A>G, NM_021870.3:c.496A>G, NM_021870.2:c.496A>G, NP_000500.2:p.Lys166Glu, NP_068656.2:p.Lys166Glu

Select item 14888496169.

rs1488849616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154609038 (GRCh38)
4:155530190 (GRCh37)
Canonical SPDI:: NC_000004.12:154609037:C:T
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.154609038C>T, NC_000004.11:g.155530190C>T, NG_008834.1:g.8713G>A

Select item 148761796110.

rs1487617961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:154606346 (GRCh38)
4:155527498 (GRCh37)
Canonical SPDI:: NC_000004.12:154606345:C:G
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000004.12:g.154606346C>G, NC_000004.11:g.155527498C>G, NG_008834.1:g.11405G>C

Select item 148754683111.

rs1487546831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154617654 (GRCh38)
4:155538806 (GRCh37)
Canonical SPDI:: NC_000004.12:154617653:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.154617654A>G, NC_000004.11:g.155538806A>G, NG_008834.1:g.97T>C

Select item 148743077112.

rs1487430771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:154607427 (GRCh38)
4:155528579 (GRCh37)
Canonical SPDI:: NC_000004.12:154607426:C:G,NC_000004.12:154607426:C:T
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.154607427C>G, NC_000004.12:g.154607427C>T, NC_000004.11:g.155528579C>G, NC_000004.11:g.155528579C>T, NG_008834.1:g.10324G>C, NG_008834.1:g.10324G>A

Select item 148736350913.

rs1487363509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154609306 (GRCh38)
4:155530458 (GRCh37)
Canonical SPDI:: NC_000004.12:154609305:T:C
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154609306T>C, NC_000004.11:g.155530458T>C, NG_008834.1:g.8445A>G

Select item 148717329114.

rs1487173291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154602755 (GRCh38)
4:155523907 (GRCh37)
Canonical SPDI:: NC_000004.12:154602754:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154602755C>T, NC_000004.11:g.155523907C>T, NG_008834.1:g.14996G>A

Select item 148710186915.

rs1487101869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154603640 (GRCh38)
4:155524792 (GRCh37)
Canonical SPDI:: NC_000004.12:154603639:A:G
Gene:: FGG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.154603640A>G, NC_000004.11:g.155524792A>G, NG_008834.1:g.14111T>C

Select item 148661485916.

rs1486614859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:154617237 (GRCh38)
4:155538389 (GRCh37)
Canonical SPDI:: NC_000004.12:154617236:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.154617237G>A, NC_000004.11:g.155538389G>A, NG_008834.1:g.514C>T

Select item 148638160117.

rs1486381601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154616385 (GRCh38)
4:155537537 (GRCh37)
Canonical SPDI:: NC_000004.12:154616384:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00111/2 (Korea1K)
HGVS:: NC_000004.12:g.154616385C>T, NC_000004.11:g.155537537C>T, NG_008834.1:g.1366G>A

Select item 148608323818.

rs1486083238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:154615590 (GRCh38)
4:155536742 (GRCh37)
Canonical SPDI:: NC_000004.12:154615589:T:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.154615590T>A, NC_000004.11:g.155536742T>A, NG_008834.1:g.2161A>T

Select item 148595727919.

rs1485957279 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:154606116 (GRCh38)
4:155527269 (GRCh37)
Canonical SPDI:: NC_000004.12:154606116:AA:AAA
Gene:: FGG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.154606118dup, NC_000004.11:g.155527270dup, NG_008834.1:g.11634dup

Select item 148566186220.

rs1485661862 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:154616188 (GRCh38)
4:155537340 (GRCh37)
Canonical SPDI:: NC_000004.12:154616187:AT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.154616188_154616189del, NC_000004.11:g.155537340_155537341del, NG_008834.1:g.1562_1563del

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