SNP Links for Gene (Select 54919) - SNP

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Select item 14915611701.

rs1491561170 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:780923 (GRCh38)
7:820560 (GRCh37)
Canonical SPDI:: NC_000007.14:780921:ATA:A
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.780923_780924del, NC_000007.13:g.820560_820561del, NG_033137.1:g.59223_59224del

Select item 14913744102.

rs1491374410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 7:744113 (GRCh38)
7:783751 (GRCh37)
Canonical SPDI:: NC_000007.14:744113:A:AAA
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000011/3 (TOPMED)
AA=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.744114_744115insAA, NC_000007.13:g.783751_783752insAA, NG_033137.1:g.22414_22415insAA

Select item 14913151503.

rs1491315150 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:742851 (GRCh38)
7:782488 (GRCh37)
Canonical SPDI:: NC_000007.14:742850:AA:
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.742851_742852del, NC_000007.13:g.782488_782489del, NG_033137.1:g.21151_21152del

Select item 14912180994.

rs1491218099 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:751570 (GRCh38)
7:791207 (GRCh37)
Canonical SPDI:: NC_000007.14:751569:AT:
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000058/6 (GnomAD)
HGVS:: NC_000007.14:g.751570_751571del, NC_000007.13:g.791207_791208del, NG_033137.1:g.29870_29871del

Select item 14911752055.

rs1491175205 has merged into rs11439744 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:751583 (GRCh38)
7:791220 (GRCh37)
Canonical SPDI:: NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3081/1543 (1000Genomes)
HGVS:: NC_000007.14:g.751583_751591del, NC_000007.14:g.751587_751591del, NC_000007.14:g.751588_751591del, NC_000007.14:g.751589_751591del, NC_000007.14:g.751590_751591del, NC_000007.14:g.751591del, NC_000007.14:g.751591dup, NC_000007.14:g.751590_751591dup, NC_000007.14:g.751589_751591dup, NC_000007.14:g.751585_751591dup, NC_000007.14:g.751571_751591T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.791220_791228del, NC_000007.13:g.791224_791228del, NC_000007.13:g.791225_791228del, NC_000007.13:g.791226_791228del, NC_000007.13:g.791227_791228del, NC_000007.13:g.791228del, NC_000007.13:g.791228dup, NC_000007.13:g.791227_791228dup, NC_000007.13:g.791226_791228dup, NC_000007.13:g.791222_791228dup, NC_000007.13:g.791208_791228T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033137.1:g.29883_29891del, NG_033137.1:g.29887_29891del, NG_033137.1:g.29888_29891del, NG_033137.1:g.29889_29891del, NG_033137.1:g.29890_29891del, NG_033137.1:g.29891del, NG_033137.1:g.29891dup, NG_033137.1:g.29890_29891dup, NG_033137.1:g.29889_29891dup, NG_033137.1:g.29885_29891dup, NG_033137.1:g.29871_29891T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14910093916.

rs1491009391 has merged into rs112033938 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 7:753606 (GRCh38)
7:793243 (GRCh37)
Canonical SPDI:: NC_000007.14:753601:TCTCTC:TCTC,NC_000007.14:753601:TCTCTC:TCTCTCTC
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0.32323/1578 (ALFA)
TC=0.1513/151 (GoNL)
TC=0.16814/648 (ALSPAC)
TC=0.17772/659 (TWINSUK)
TC=0.185/111 (NorthernSweden)
TC=0.21805/1092 (1000Genomes)
TC=0.56583/9472 (TOMMO)
HGVS:: NC_000007.14:g.753602TC[2], NC_000007.14:g.753602TC[4], NC_000007.13:g.793239TC[2], NC_000007.13:g.793239TC[4], NG_033137.1:g.31902TC[2], NG_033137.1:g.31902TC[4]

Select item 14909636497.

rs1490963649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:754877 (GRCh38)
7:794514 (GRCh37)
Canonical SPDI:: NC_000007.14:754876:C:A,NC_000007.14:754876:C:T
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.754877C>A, NC_000007.14:g.754877C>T, NC_000007.13:g.794514C>A, NC_000007.13:g.794514C>T, NG_033137.1:g.33177C>A, NG_033137.1:g.33177C>T

Select item 14909595618.

rs1490959561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:767868 (GRCh38)
7:807505 (GRCh37)
Canonical SPDI:: NC_000007.14:767867:G:T
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.767868G>T, NC_000007.13:g.807505G>T, NG_033137.1:g.46168G>T

Select item 14908934289.

rs1490893428 [Homo sapiens]

Variant type:: DEL
Alleles:: AATCAATCAT>- [Show Flanks]
Chromosome:: 7:742847 (GRCh38)
7:782484 (GRCh37)
Canonical SPDI:: NC_000007.14:742846:AATCAATCAT:
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000259/36 (GnomAD)
HGVS:: NC_000007.14:g.742847_742856del, NC_000007.13:g.782484_782493del, NG_033137.1:g.21147_21156del

Select item 149087737710.

rs1490877377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:744382 (GRCh38)
7:784019 (GRCh37)
Canonical SPDI:: NC_000007.14:744381:T:C
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.744382T>C, NC_000007.13:g.784019T>C, NG_033137.1:g.22682T>C

Select item 149081564111.

rs1490815641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:728039 (GRCh38)
7:767676 (GRCh37)
Canonical SPDI:: NC_000007.14:728038:C:T
Gene:: PRKAR1B (Varview), DNAAF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.728039C>T, NC_000007.13:g.767676C>T, NG_042811.1:g.4638G>A, NG_033137.1:g.6339C>T, XM_047420607.1:c.-192G>A

Select item 149077413412.

rs1490774134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:732243 (GRCh38)
7:771880 (GRCh37)
Canonical SPDI:: NC_000007.14:732242:C:T
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.732243C>T, NC_000007.13:g.771880C>T, NG_042811.1:g.434G>A, NG_033137.1:g.10543C>T

Select item 149076977313.

rs1490769773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:776037 (GRCh38)
7:815674 (GRCh37)
Canonical SPDI:: NC_000007.14:776036:T:C
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.776037T>C, NC_000007.13:g.815674T>C, NG_033137.1:g.54337T>C

Select item 149075915114.

rs1490759151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:727445 (GRCh38)
7:767082 (GRCh37)
Canonical SPDI:: NC_000007.14:727444:G:A,NC_000007.14:727444:G:T
Gene:: PRKAR1B (Varview), DNAAF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00002/2 (GnomAD)
T=0.00057/1 (Korea1K)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.727445G>A, NC_000007.14:g.727445G>T, NC_000007.13:g.767082G>A, NC_000007.13:g.767082G>T, NG_042811.1:g.5232C>T, NG_042811.1:g.5232C>A, NG_033137.1:g.5745G>A, NG_033137.1:g.5745G>T

Select item 149069555015.

rs1490695550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:755400 (GRCh38)
7:795037 (GRCh37)
Canonical SPDI:: NC_000007.14:755399:G:A
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.003333/2 (NorthernSweden)
HGVS:: NC_000007.14:g.755400G>A, NC_000007.13:g.795037G>A, NG_033137.1:g.33700G>A

Select item 149059626716.

rs1490596267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:727212 (GRCh38)
7:766849 (GRCh37)
Canonical SPDI:: NC_000007.14:727211:G:A
Gene:: PRKAR1B (Varview), DNAAF5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.727212G>A, NC_000007.13:g.766849G>A, NG_042811.1:g.5465C>T, NM_001164760.2:c.-25C>T, NM_001164760.1:c.-25C>T, NG_033137.1:g.5512G>A, NM_017802.4:c.492G>A, NM_017802.3:c.492G>A, NR_075098.2:n.514G>A, NR_075098.1:n.512G>A, XM_024446813.2:c.492G>A, XM_024446813.1:c.492G>A

Select item 149058426017.

rs1490584260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:755221 (GRCh38)
7:794858 (GRCh37)
Canonical SPDI:: NC_000007.14:755220:C:T
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_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_000007.14:g.755221C>T, NC_000007.13:g.794858C>T, NG_033137.1:g.33521C>T

Select item 149047841018.

rs1490478410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:761444 (GRCh38)
7:801081 (GRCh37)
Canonical SPDI:: NC_000007.14:761443:T:A
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.761444T>A, NC_000007.13:g.801081T>A, NG_033137.1:g.39744T>A

Select item 149032961819.

rs1490329618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:728430 (GRCh38)
7:768067 (GRCh37)
Canonical SPDI:: NC_000007.14:728429:C:G,NC_000007.14:728429:C:T
Gene:: PRKAR1B (Varview), DNAAF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.728430C>G, NC_000007.14:g.728430C>T, NC_000007.13:g.768067C>G, NC_000007.13:g.768067C>T, NG_042811.1:g.4247G>C, NG_042811.1:g.4247G>A, NG_033137.1:g.6730C>G, NG_033137.1:g.6730C>T, XM_047420607.1:c.-583G>C, XM_047420607.1:c.-583G>A

Select item 149031030020.

rs1490310300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:777036 (GRCh38)
7:816673 (GRCh37)
Canonical SPDI:: NC_000007.14:777035:C:G
Gene:: DNAAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000007.14:g.777036C>G, NC_000007.13:g.816673C>G, NG_033137.1:g.55336C>G

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