SNP Links for Gene (Select 100507003) - SNP

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Items: 1 to 20 of 1770

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Select item 14909018501.

rs1490901850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49428974 (GRCh38)
19:49932231 (GRCh37)
Canonical SPDI:: NC_000019.10:49428973:A:G
Gene:: SLC17A7 (Varview), GFY (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_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_000019.10:g.49428974A>G, NC_000019.9:g.49932231A>G, NM_001195256.2:c.*156A>G, NM_001385187.1:c.*156A>G

Select item 14905244022.

rs1490524402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49427430 (GRCh38)
19:49930687 (GRCh37)
Canonical SPDI:: NC_000019.10:49427429:G:T
Gene:: GFY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49427430G>T, NC_000019.9:g.49930687G>T, NM_001195256.2:c.1000G>T, NM_001195256.1:c.1000G>T, NM_001385187.1:c.1000G>T, NP_001182185.1:p.Ala334Ser, NP_001372116.1:p.Ala334Ser

Select item 14903759533.

rs1490375953 [Homo sapiens]

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

Select item 14900825224.

rs1490082522 [Homo sapiens]

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

Select item 14900568615.

rs1490056861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49429438 (GRCh38)
19:49932695 (GRCh37)
Canonical SPDI:: NC_000019.10:49429437:G:A
Gene:: SLC17A7 (Varview), GFY (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_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_000019.10:g.49429438G>A, NC_000019.9:g.49932695G>A, NM_020309.4:c.*1081C>T, NM_020309.3:c.*1081C>T

Select item 14900285966.

rs1490028596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49429270 (GRCh38)
19:49932527 (GRCh37)
Canonical SPDI:: NC_000019.10:49429269:A:G
Gene:: SLC17A7 (Varview), GFY (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00152/18 (ALFA)
G=0.0048/14 (KOREAN)
HGVS:: NC_000019.10:g.49429270A>G, NC_000019.9:g.49932527A>G

Select item 14895978897.

rs1489597889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49428126 (GRCh38)
19:49931383 (GRCh37)
Canonical SPDI:: NC_000019.10:49428125:G:T
Gene:: GFY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49428126G>T, NC_000019.9:g.49931383G>T

Select item 14894606808.

rs1489460680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49425020 (GRCh38)
19:49928277 (GRCh37)
Canonical SPDI:: NC_000019.10:49425019:T:C
Gene:: PTH2 (Varview), GFY (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49425020T>C, NC_000019.9:g.49928277T>C

Select item 14893082619.

rs1489308261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49424648 (GRCh38)
19:49927905 (GRCh37)
Canonical SPDI:: NC_000019.10:49424647:C:T
Gene:: PTH2 (Varview), GFY (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.49424648C>T, NC_000019.9:g.49927905C>T

Select item 148843399910.

rs1488433999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49423853 (GRCh38)
19:49927110 (GRCh37)
Canonical SPDI:: NC_000019.10:49423852:A:C
Gene:: PTH2 (Varview), GFY (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49423853A>C, NC_000019.9:g.49927110A>C, NM_001385187.1:c.-256A>C

Select item 148834212411.

rs1488342124 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCAGTG>- [Show Flanks]
Chromosome:: 19:49426326 (GRCh38)
19:49929583 (GRCh37)
Canonical SPDI:: NC_000019.10:49426322:GTGTTCCAGTG:GTG
Gene:: GFY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.49426326_49426333del, NC_000019.9:g.49929583_49929590del

Select item 148785874112.

rs1487858741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49423887 (GRCh38)
19:49927144 (GRCh37)
Canonical SPDI:: NC_000019.10:49423886:G:T
Gene:: PTH2 (Varview), GFY (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49423887G>T, NC_000019.9:g.49927144G>T, NM_001385187.1:c.-222G>T

Select item 148696888313.

rs1486968883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49428420 (GRCh38)
19:49931677 (GRCh37)
Canonical SPDI:: NC_000019.10:49428419:C:A
Gene:: GFY (Varview)
Functional Consequence:: 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_000019.10:g.49428420C>A, NC_000019.9:g.49931677C>A

Select item 148663094414.

rs1486630944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49427339 (GRCh38)
19:49930596 (GRCh37)
Canonical SPDI:: NC_000019.10:49427338:C:T
Gene:: GFY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49427339C>T, NC_000019.9:g.49930596C>T, NM_001195256.2:c.909C>T, NM_001195256.1:c.909C>T, NM_001385187.1:c.909C>T

Select item 148612060315.

rs1486120603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49423789 (GRCh38)
19:49927046 (GRCh37)
Canonical SPDI:: NC_000019.10:49423788:C:G
Gene:: PTH2 (Varview), GFY (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49423789C>G, NC_000019.9:g.49927046C>G, NM_001385187.1:c.-320C>G

Select item 148588651616.

rs1485886516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49427226 (GRCh38)
19:49930483 (GRCh37)
Canonical SPDI:: NC_000019.10:49427225:T:C
Gene:: GFY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.49427226T>C, NC_000019.9:g.49930483T>C, NM_001195256.2:c.796T>C, NM_001195256.1:c.796T>C, NM_001385187.1:c.796T>C, NP_001182185.1:p.Tyr266His, NP_001372116.1:p.Tyr266His

Select item 148565359917.

rs1485653599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49426902 (GRCh38)
19:49930159 (GRCh37)
Canonical SPDI:: NC_000019.10:49426901:T:G
Gene:: GFY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49426902T>G, NC_000019.9:g.49930159T>G, NM_001195256.2:c.472T>G, NM_001195256.1:c.472T>G, NM_001385187.1:c.472T>G, NP_001182185.1:p.Ser158Ala, NP_001372116.1:p.Ser158Ala

Select item 148541758818.

rs1485417588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49426586 (GRCh38)
19:49929843 (GRCh37)
Canonical SPDI:: NC_000019.10:49426585:C:T
Gene:: GFY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000082/11 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49426586C>T, NC_000019.9:g.49929843C>T, NM_001195256.2:c.156C>T, NM_001195256.1:c.156C>T, NM_001385187.1:c.156C>T

Select item 148523559119.

rs1485235591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49426373 (GRCh38)
19:49929630 (GRCh37)
Canonical SPDI:: NC_000019.10:49426372:T:C
Gene:: GFY (Varview)
Functional Consequence:: intron_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.49426373T>C, NC_000019.9:g.49929630T>C

Select item 148486707620.

rs1484867076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49425900 (GRCh38)
19:49929157 (GRCh37)
Canonical SPDI:: NC_000019.10:49425899:C:T
Gene:: GFY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49425900C>T, NC_000019.9:g.49929157C>T

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