SNP Links for Gene (Select 81926) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14909646691.

rs1490964669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1885520 (GRCh38)
19:1885519 (GRCh37)
Canonical SPDI:: NC_000019.10:1885519:G:A
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1885520G>A, NC_000019.9:g.1885519G>A

Select item 14904459112.

rs1490445911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1886928 (GRCh38)
19:1886927 (GRCh37)
Canonical SPDI:: NC_000019.10:1886927:G:A
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.1886928G>A, NC_000019.9:g.1886927G>A

Select item 14901693253.

rs1490169325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1878206 (GRCh38)
19:1878205 (GRCh37)
Canonical SPDI:: NC_000019.10:1878205:G:A
Gene:: ABHD17A (Varview), KLF16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,3_prime_UTR_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.1878206G>A, NC_000019.9:g.1878205G>A, XM_047439488.1:c.*677C>T

Select item 14900909484.

rs1490090948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1886273 (GRCh38)
19:1886272 (GRCh37)
Canonical SPDI:: NC_000019.10:1886272:G:A,NC_000019.10:1886272:G:C
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.1886273G>A, NC_000019.10:g.1886273G>C, NC_000019.9:g.1886272G>A, NC_000019.9:g.1886272G>C

Select item 14896933225.

rs1489693322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1886152 (GRCh38)
19:1886151 (GRCh37)
Canonical SPDI:: NC_000019.10:1886151:C:T
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1886152C>T, NC_000019.9:g.1886151C>T

Select item 14891373306.

rs1489137330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:1877325 (GRCh38)
19:1877324 (GRCh37)
Canonical SPDI:: NC_000019.10:1877324:A:T
Gene:: ABHD17A (Varview), KLF16 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1877325A>T, NC_000019.9:g.1877324A>T, NM_031213.4:c.961T>A, NM_031213.3:c.961T>A, XM_011528338.3:c.961T>A, XM_011528338.2:c.961T>A, XM_011528338.1:c.961T>A, NM_001130111.2:c.808T>A, NM_001130111.1:c.808T>A, XM_047439487.1:c.808T>A, XM_047439489.1:c.364T>A, NP_112490.3:p.Cys321Ser, XP_011526640.1:p.Cys321Ser, NP_001123583.1:p.Cys270Ser, XP_047295443.1:p.Cys270Ser, XP_047295445.1:p.Cys122Ser

Select item 14891157207.

rs1489115720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1884135 (GRCh38)
19:1884134 (GRCh37)
Canonical SPDI:: NC_000019.10:1884134:T:C
Gene:: ABHD17A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1884135T>C, NC_000019.9:g.1884134T>C

Select item 14890855008.

rs1489085500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1876823 (GRCh38)
19:1876822 (GRCh37)
Canonical SPDI:: NC_000019.10:1876822:C:A,NC_000019.10:1876822:C:T
Gene:: ABHD17A (Varview), KLF16 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.1876823C>A, NC_000019.10:g.1876823C>T, NC_000019.9:g.1876822C>A, NC_000019.9:g.1876822C>T, NM_031213.4:c.*377G>T, NM_031213.4:c.*377G>A, XM_011528338.3:c.*377G>T, XM_011528338.3:c.*377G>A, NM_001130111.2:c.*377G>T, NM_001130111.2:c.*377G>A, XM_047439487.1:c.*377G>T, XM_047439487.1:c.*377G>A, XM_047439489.1:c.*377G>T, XM_047439489.1:c.*377G>A

Select item 14884255669.

rs1488425566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1884880 (GRCh38)
19:1884879 (GRCh37)
Canonical SPDI:: NC_000019.10:1884879:G:A
Gene:: ABHD17A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1884880G>A, NC_000019.9:g.1884879G>A

Select item 148836300610.

rs1488363006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1882691 (GRCh38)
19:1882690 (GRCh37)
Canonical SPDI:: NC_000019.10:1882690:G:A
Gene:: ABHD17A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1882691G>A, NC_000019.9:g.1882690G>A

Select item 148825059511.

rs1488250595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1879335 (GRCh38)
19:1879334 (GRCh37)
Canonical SPDI:: NC_000019.10:1879334:C:A,NC_000019.10:1879334:C:T
Gene:: ABHD17A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00787/23 (KOREAN)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.1879335C>A, NC_000019.10:g.1879335C>T, NC_000019.9:g.1879334C>A, NC_000019.9:g.1879334C>T, XM_047439489.1:c.-589G>T, XM_047439489.1:c.-589G>A

Select item 148783881112.

rs1487838811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1880611 (GRCh38)
19:1880610 (GRCh37)
Canonical SPDI:: NC_000019.10:1880610:G:T
Gene:: ABHD17A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.1880611G>T, NC_000019.9:g.1880610G>T

Select item 148727498413.

rs1487274984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1880703 (GRCh38)
19:1880702 (GRCh37)
Canonical SPDI:: NC_000019.10:1880702:C:G,NC_000019.10:1880702:C:T
Gene:: ABHD17A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1880703C>G, NC_000019.10:g.1880703C>T, NC_000019.9:g.1880702C>G, NC_000019.9:g.1880702C>T

Select item 148725281114.

rs1487252811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1881041 (GRCh38)
19:1881040 (GRCh37)
Canonical SPDI:: NC_000019.10:1881040:G:A
Gene:: ABHD17A (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1881041G>A, NC_000019.9:g.1881040G>A, NM_031213.4:c.340C>T, NM_031213.3:c.340C>T, XM_011528338.3:c.340C>T, XM_011528338.2:c.340C>T, XM_011528338.1:c.340C>T, NP_112490.3:p.His114Tyr, XP_011526640.1:p.His114Tyr

Select item 148709341015.

rs1487093410 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:1879680 (GRCh38)
19:1879679 (GRCh37)
Canonical SPDI:: NC_000019.10:1879679:CCC:CC
Gene:: ABHD17A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1879682del, NC_000019.9:g.1879681del, XM_047439489.1:c.-934del

Select item 148680177716.

rs1486801777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1878889 (GRCh38)
19:1878888 (GRCh37)
Canonical SPDI:: NC_000019.10:1878888:C:A,NC_000019.10:1878888:C:T
Gene:: ABHD17A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1878889C>A, NC_000019.10:g.1878889C>T, NC_000019.9:g.1878888C>A, NC_000019.9:g.1878888C>T, XM_047439488.1:c.543G>T, XM_047439488.1:c.543G>A, XM_047439489.1:c.-143G>T, XM_047439489.1:c.-143G>A, XP_047295444.1:p.Glu181Asp

Select item 148679877117.

rs1486798771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1882110 (GRCh38)
19:1882109 (GRCh37)
Canonical SPDI:: NC_000019.10:1882109:C:T
Gene:: ABHD17A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.1882110C>T, NC_000019.9:g.1882109C>T, XM_011528338.3:c.-544G>A, XM_011528338.2:c.-544G>A, XM_011528338.1:c.-544G>A, XM_047439487.1:c.-544G>A

Select item 148663084718.

rs1486630847 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:1887088 (GRCh38)
19:1887087 (GRCh37)
Canonical SPDI:: NC_000019.10:1887087:T:
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1887088del, NC_000019.9:g.1887087del

Select item 148662859919.

rs1486628599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1876942 (GRCh38)
19:1876941 (GRCh37)
Canonical SPDI:: NC_000019.10:1876941:G:A
Gene:: ABHD17A (Varview), KLF16 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_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.1876942G>A, NC_000019.9:g.1876941G>A, NM_031213.4:c.*258C>T, XM_011528338.3:c.*258C>T, NM_001130111.2:c.*258C>T, XM_047439487.1:c.*258C>T, XM_047439489.1:c.*258C>T

Select item 148658102520.

rs1486581025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1887177 (GRCh38)
19:1887176 (GRCh37)
Canonical SPDI:: NC_000019.10:1887176:C:A
Gene:: ABHD17A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.1887177C>A, NC_000019.9:g.1887176C>A

<< First< Prev

Page of 50

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 81926) (1000)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: