SNP Links for Nucleotide (Select 1187953418) - SNP

Links from Nucleotide

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Select item 14908664671.

rs1490866467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:100324076 (GRCh38)
14:100790413 (GRCh37)
Canonical SPDI:: NC_000014.9:100324075:G:A,NC_000014.9:100324075:G:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.100324076G>A, NC_000014.9:g.100324076G>T, NC_000014.8:g.100790413G>A, NC_000014.8:g.100790413G>T, NG_054632.1:g.5735G>A, NG_054632.1:g.5735G>T

Select item 14906243522.

rs1490624352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:100320374 (GRCh38)
14:100786711 (GRCh37)
Canonical SPDI:: NC_000014.9:100320373:T:C,NC_000014.9:100320373:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.100320374T>C, NC_000014.9:g.100320374T>G, NC_000014.8:g.100786711T>C, NC_000014.8:g.100786711T>G, NG_054632.1:g.2033T>C, NG_054632.1:g.2033T>G

Select item 14903254993.

rs1490325499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100322859 (GRCh38)
14:100789196 (GRCh37)
Canonical SPDI:: NC_000014.9:100322858:C:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000083/22 (TOPMED)
HGVS:: NC_000014.9:g.100322859C>T, NC_000014.8:g.100789196C>T, NG_054632.1:g.4518C>T

Select item 14899106554.

rs1489910655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100327359 (GRCh38)
14:100793696 (GRCh37)
Canonical SPDI:: NC_000014.9:100327358:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100327359G>A, NC_000014.8:g.100793696G>A, NG_054632.1:g.9018G>A, NM_207117.4:c.316G>A, NM_207117.3:c.316G>A, NM_207117.2:c.316G>A, NM_001350877.2:c.-123G>A, NM_001350877.1:c.-123G>A, NP_997000.2:p.Gly106Ser

Select item 14895562945.

rs1489556294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100324499 (GRCh38)
14:100790836 (GRCh37)
Canonical SPDI:: NC_000014.9:100324498:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_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_000014.9:g.100324499A>G, NC_000014.8:g.100790836A>G, NG_054632.1:g.6158A>G

Select item 14894438506.

rs1489443850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100319092 (GRCh38)
14:100785429 (GRCh37)
Canonical SPDI:: NC_000014.9:100319091:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.100319092G>A, NC_000014.8:g.100785429G>A, NG_054632.1:g.751G>A, NG_043359.1:g.379C>T

Select item 14890145907.

rs1489014590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:100322791 (GRCh38)
14:100789128 (GRCh37)
Canonical SPDI:: NC_000014.9:100322790:G:A,NC_000014.9:100322790:G:C
Gene:: SLC25A47 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000014.9:g.100322791G>A, NC_000014.9:g.100322791G>C, NC_000014.8:g.100789128G>A, NC_000014.8:g.100789128G>C, NG_054632.1:g.4450G>A, NG_054632.1:g.4450G>C

Select item 14890019058.

rs1489001905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:100325402 (GRCh38)
14:100791739 (GRCh37)
Canonical SPDI:: NC_000014.9:100325401:G:C
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.100325402G>C, NC_000014.8:g.100791739G>C, NG_054632.1:g.7061G>C

Select item 14889768949.

rs1488976894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:100318562 (GRCh38)
14:100784899 (GRCh37)
Canonical SPDI:: NC_000014.9:100318561:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000198/3 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000014.9:g.100318562C>A, NC_000014.8:g.100784899C>A, NG_054632.1:g.221C>A

Select item 148860969610.

rs1488609696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100326432 (GRCh38)
14:100792769 (GRCh37)
Canonical SPDI:: NC_000014.9:100326431:C:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: 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_000014.9:g.100326432C>T, NC_000014.8:g.100792769C>T, NG_054632.1:g.8091C>T

Select item 148856695011.

rs1488566950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100325474 (GRCh38)
14:100791811 (GRCh37)
Canonical SPDI:: NC_000014.9:100325473:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100325474G>A, NC_000014.8:g.100791811G>A, NG_054632.1:g.7133G>A

Select item 148847029012.

rs1488470290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100332123 (GRCh38)
14:100798460 (GRCh37)
Canonical SPDI:: NC_000014.9:100332122:A:G
Validated:: by frequency,by cluster
MAF:: G=0.00014/2 (TOMMO)
G=0.00055/1 (Korea1K)
HGVS:: NC_000014.9:g.100332123A>G, NC_000014.8:g.100798460A>G, NG_029914.1:g.49221T>C, NG_054632.1:g.13782A>G

Select item 148811823513.

rs1488118235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100327312 (GRCh38)
14:100793649 (GRCh37)
Canonical SPDI:: NC_000014.9:100327311:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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_000014.9:g.100327312A>G, NC_000014.8:g.100793649A>G, NG_054632.1:g.8971A>G, NM_207117.4:c.269A>G, NM_207117.3:c.269A>G, NM_207117.2:c.269A>G, NM_001350877.2:c.-170A>G, NM_001350877.1:c.-170A>G, NP_997000.2:p.Asp90Gly

Select item 148808740714.

rs1488087407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:100329588 (GRCh38)
14:100795925 (GRCh37)
Canonical SPDI:: NC_000014.9:100329587:G:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100329588G>T, NC_000014.8:g.100795925G>T, NG_054632.1:g.11247G>T, NM_207117.4:c.870G>T, NM_207117.3:c.870G>T, NM_207117.2:c.870G>T, NM_001350877.2:c.432G>T, NM_001350877.1:c.432G>T, NP_997000.2:p.Met290Ile, NP_001337806.1:p.Met144Ile

Select item 148797190515.

rs1487971905 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148751776316.

rs1487517763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100328251 (GRCh38)
14:100794588 (GRCh37)
Canonical SPDI:: NC_000014.9:100328250:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_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_000014.9:g.100328251A>G, NC_000014.8:g.100794588A>G, NG_054632.1:g.9910A>G

Select item 148736576817.

rs1487365768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100324983 (GRCh38)
14:100791320 (GRCh37)
Canonical SPDI:: NC_000014.9:100324982:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.100324983A>G, NC_000014.8:g.100791320A>G, NG_054632.1:g.6642A>G

Select item 148734405818.

rs1487344058 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:100328984 (GRCh38)
14:100795322 (GRCh37)
Canonical SPDI:: NC_000014.9:100328984:A:AA
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.100328985dup, NC_000014.8:g.100795322dup, NG_054632.1:g.10644dup, NM_207117.4:c.587dup, NM_207117.3:c.587dup, NM_207117.2:c.587dup, NM_001350877.2:c.149dup, NM_001350877.1:c.149dup, NP_997000.2:p.Tyr196Ter, NP_001337806.1:p.Tyr50Ter

Select item 148728099819.

rs1487280998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100321545 (GRCh38)
14:100787882 (GRCh37)
Canonical SPDI:: NC_000014.9:100321544:C:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000014.9:g.100321545C>T, NC_000014.8:g.100787882C>T, NG_054632.1:g.3204C>T

Select item 148719573120.

rs1487195731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:100331953 (GRCh38)
14:100798290 (GRCh37)
Canonical SPDI:: NC_000014.9:100331952:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.100331953T>C, NC_000014.8:g.100798290T>C, NG_029914.1:g.49391A>G, NG_054632.1:g.13612T>C

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