SNP Links for Nucleotide (Select 193290112) - SNP

Links from Nucleotide

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Select item 14912331491.

rs1491233149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTACCTCCCCTCTCTCTGGGTCTCT [Show Flanks]
Chromosome:: 19:48962914 (GRCh38)
19:49466172 (GRCh37)
Canonical SPDI:: NC_000019.10:48962914:TGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCT:TGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCT
Validated:: by frequency,by cluster
MAF:: TGGGTCTCTGTACCTCCCCTCTCTC=0.000806/108 (GnomAD)
TGGGTCTCTGTACCTCCCCTCTCTC=0.001562/10 (1000Genomes)
HGVS:: NC_000019.10:g.48962924_48962948dup, NC_000019.9:g.49466181_49466205dup, NG_012191.1:g.13065_13089dup, NG_008152.1:g.2616_2640dup

Select item 14904348202.

rs1490434820 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:48967428 (GRCh38)
19:49470685 (GRCh37)
Canonical SPDI:: NC_000019.10:48967427:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.48967428_48967429del, NC_000019.9:g.49470685_49470686del, NG_012923.1:g.30925_30926del, NG_008152.1:g.7120_7121del

Select item 14901094253.

rs1490109425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48966446 (GRCh38)
19:49469703 (GRCh37)
Canonical SPDI:: NC_000019.10:48966445:C:T
Gene:: FTL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.48966446C>T, NC_000019.9:g.49469703C>T, NG_012923.1:g.31908G>A, NG_008152.1:g.6138C>T

Select item 14901053194.

rs1490105319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48968826 (GRCh38)
19:49472083 (GRCh37)
Canonical SPDI:: NC_000019.10:48968825:G:C
Gene:: GYS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48968826G>C, NC_000019.9:g.49472083G>C, NG_012923.1:g.29528C>G, NM_002103.5:c.*462C>G, NM_002103.4:c.*462C>G, NR_027763.2:n.2691C>G, NR_027763.1:n.2735C>G, NM_001161587.2:c.*462C>G, NM_001161587.1:c.*462C>G, NG_008152.1:g.8518G>C

Select item 14896191455.

rs1489619145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48968726 (GRCh38)
19:49471983 (GRCh37)
Canonical SPDI:: NC_000019.10:48968725:G:A
Gene:: GYS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.48968726G>A, NC_000019.9:g.49471983G>A, NG_012923.1:g.29628C>T, NM_002103.5:c.*562C>T, NM_002103.4:c.*562C>T, NR_027763.2:n.2791C>T, NR_027763.1:n.2835C>T, NM_001161587.2:c.*562C>T, NM_001161587.1:c.*562C>T, NG_008152.1:g.8418G>A

Select item 14895862426.

rs1489586242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48966633 (GRCh38)
19:49469890 (GRCh37)
Canonical SPDI:: NC_000019.10:48966632:C:A
Gene:: FTL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48966633C>A, NC_000019.9:g.49469890C>A, NG_012923.1:g.31721G>T, NG_008152.1:g.6325C>A, NM_000146.4:c.426C>A, NM_000146.3:c.426C>A

Select item 14895234717.

rs1489523471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48960535 (GRCh38)
19:49463792 (GRCh37)
Canonical SPDI:: NC_000019.10:48960534:G:T
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48960535G>T, NC_000019.9:g.49463792G>T, NG_012191.1:g.10676G>T, NG_008152.1:g.227G>T

Select item 14894798948.

rs1489479894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:48965468 (GRCh38)
19:49468725 (GRCh37)
Canonical SPDI:: NC_000019.10:48965467:A:G,NC_000019.10:48965467:A:T
Gene:: FTL (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.48965468A>G, NC_000019.10:g.48965468A>T, NC_000019.9:g.49468725A>G, NC_000019.9:g.49468725A>T, NG_008152.1:g.5160A>G, NG_008152.1:g.5160A>T, NM_000146.4:c.-40A>G, NM_000146.4:c.-40A>T, NM_000146.3:c.-40A>G, NM_000146.3:c.-40A>T

Select item 14893615929.

rs1489361592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48960310 (GRCh38)
19:49463567 (GRCh37)
Canonical SPDI:: NC_000019.10:48960309:C:T
Gene:: BAX (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48960310C>T, NC_000019.9:g.49463567C>T, NG_012191.1:g.10451C>T, NR_027882.2:n.495C>T, NR_027882.1:n.510C>T, NG_008152.1:g.2C>T

Select item 148845691810.

rs1488456918 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:48963055 (GRCh38)
19:49466313 (GRCh37)
Canonical SPDI:: NC_000019.10:48963055::T
HGVS:: NC_000019.10:g.48963055_48963056insT, NC_000019.9:g.49466312_49466313insT, NG_012191.1:g.13196_13197insT, NG_008152.1:g.2747_2748insT

Select item 148809807411.

rs1488098074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48965612 (GRCh38)
19:49468869 (GRCh37)
Canonical SPDI:: NC_000019.10:48965611:G:A
Gene:: FTL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.48965612G>A, NC_000019.9:g.49468869G>A, NG_008152.1:g.5304G>A

Select item 148761004512.

rs1487610045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:48965828 (GRCh38)
19:49469085 (GRCh37)
Canonical SPDI:: NC_000019.10:48965827:A:C
Gene:: FTL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48965828A>C, NC_000019.9:g.49469085A>C, NG_008152.1:g.5520A>C, NM_000146.4:c.161A>C, NM_000146.3:c.161A>C, NP_000137.2:p.Glu54Ala

Select item 148660553013.

rs1486605530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48963858 (GRCh38)
19:49467115 (GRCh37)
Canonical SPDI:: NC_000019.10:48963857:G:A
Gene:: FTL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48963858G>A, NC_000019.9:g.49467115G>A, NG_008152.1:g.3550G>A, NG_070965.1:g.251G>A

Select item 148650386514.

rs1486503865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48964841 (GRCh38)
19:49468098 (GRCh37)
Canonical SPDI:: NC_000019.10:48964840:C:T
Gene:: FTL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.48964841C>T, NC_000019.9:g.49468098C>T, NG_008152.1:g.4533C>T

Select item 148649570315.

rs1486495703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48961157 (GRCh38)
19:49464414 (GRCh37)
Canonical SPDI:: NC_000019.10:48961156:T:C
Gene:: BAX (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48961157T>C, NC_000019.9:g.49464414T>C, NG_012191.1:g.11298T>C, NM_004324.4:c.*60T>C, NM_004324.3:c.*60T>C, NM_001291429.2:c.*60T>C, NM_001291429.1:c.*60T>C, NM_001291430.2:c.*60T>C, NM_001291430.1:c.*60T>C, NG_008152.1:g.849T>C

Select item 148627038316.

rs1486270383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48964335 (GRCh38)
19:49467592 (GRCh37)
Canonical SPDI:: NC_000019.10:48964334:G:C
Gene:: FTL (Varview)
Functional Consequence:: 2KB_upstream_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_000019.10:g.48964335G>C, NC_000019.9:g.49467592G>C, NG_008152.1:g.4027G>C

Select item 148616809117.

rs1486168091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48965222 (GRCh38)
19:49468479 (GRCh37)
Canonical SPDI:: NC_000019.10:48965221:C:T
Gene:: FTL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.48965222C>T, NC_000019.9:g.49468479C>T, NG_008152.1:g.4914C>T

Select item 148612240118.

rs1486122401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48961488 (GRCh38)
19:49464745 (GRCh37)
Canonical SPDI:: NC_000019.10:48961487:G:A
Gene:: BAX (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.48961488G>A, NC_000019.9:g.49464745G>A, NG_012191.1:g.11629G>A, NM_004324.4:c.*391G>A, NM_001291429.2:c.*391G>A, NM_001291430.2:c.*391G>A, NM_001291428.2:c.480G>A, NM_001291428.1:c.480G>A, NG_008152.1:g.1180G>A, XM_047439168.1:c.423G>A

Select item 148597078919.

rs1485970789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48964970 (GRCh38)
19:49468227 (GRCh37)
Canonical SPDI:: NC_000019.10:48964969:G:C
Gene:: FTL (Varview)
Functional Consequence:: 2KB_upstream_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_000019.10:g.48964970G>C, NC_000019.9:g.49468227G>C, NG_008152.1:g.4662G>C

Select item 148573913720.

rs1485739137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48967840 (GRCh38)
19:49471097 (GRCh37)
Canonical SPDI:: NC_000019.10:48967839:A:G
Gene:: GYS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.48967840A>G, NC_000019.9:g.49471097A>G, NG_012923.1:g.30514T>C, NG_008152.1:g.7532A>G

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