SNP Links for Gene (Select 6236) - SNP

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Select item 14915235341.

rs1491523534 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 16:66924677 (GRCh38)
16:66958581 (GRCh37)
Canonical SPDI:: NC_000016.10:66924677::G,NC_000016.10:66924677::T
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000017/2 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.66924677_66924678insG, NC_000016.10:g.66924677_66924678insT, NC_000016.9:g.66958580_66958581insG, NC_000016.9:g.66958580_66958581insT

Select item 14909116052.

rs1490911605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66924838 (GRCh38)
16:66958741 (GRCh37)
Canonical SPDI:: NC_000016.10:66924837:C:T
Gene:: RRAD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.66924838C>T, NC_000016.9:g.66958741C>T, NM_004165.3:c.342G>A, NM_004165.2:c.342G>A, NM_001128850.2:c.342G>A, NM_001128850.1:c.342G>A

Select item 14907030053.

rs1490703005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAATAATAA>- [Show Flanks]
Chromosome:: 16:66924679 (GRCh38)
16:66958582 (GRCh37)
Canonical SPDI:: NC_000016.10:66924665:AAAATAATAATAAAATAATAATAA:AAAATAATAATAA
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAATAATAATAA=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.66924668AATAATAATAA[1], NC_000016.9:g.66958571AATAATAATAA[1]

Select item 14906581484.

rs1490658148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66922250 (GRCh38)
16:66956153 (GRCh37)
Canonical SPDI:: NC_000016.10:66922249:T:C
Gene:: RRAD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.66922250T>C, NC_000016.9:g.66956153T>C, NM_004165.3:c.753A>G, NM_004165.2:c.753A>G, NM_001128850.2:c.753A>G, NM_001128850.1:c.753A>G, NP_004156.1:p.Ile251Met, NP_001122322.1:p.Ile251Met

Select item 14902106325.

rs1490210632 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:66924186 (GRCh38)
16:66958089 (GRCh37)
Canonical SPDI:: NC_000016.10:66924185:T:
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.66924186del, NC_000016.9:g.66958089del

Select item 14900944736.

rs1490094473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66923638 (GRCh38)
16:66957541 (GRCh37)
Canonical SPDI:: NC_000016.10:66923637:C:T
Gene:: RRAD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.66923638C>T, NC_000016.9:g.66957541C>T, NM_004165.3:c.527G>A, NM_004165.2:c.527G>A, NM_001128850.2:c.527G>A, NM_001128850.1:c.527G>A, NP_004156.1:p.Ser176Asn, NP_001122322.1:p.Ser176Asn

Select item 14900745677.

rs1490074567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:66924558 (GRCh38)
16:66958461 (GRCh37)
Canonical SPDI:: NC_000016.10:66924557:T:G
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.66924558T>G, NC_000016.9:g.66958461T>G

Select item 14900685478.

rs1490068547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:66921990 (GRCh38)
16:66955893 (GRCh37)
Canonical SPDI:: NC_000016.10:66921989:C:A,NC_000016.10:66921989:C:G
Gene:: RRAD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66921990C>A, NC_000016.10:g.66921990C>G, NC_000016.9:g.66955893C>A, NC_000016.9:g.66955893C>G, NM_004165.3:c.*86G>T, NM_004165.3:c.*86G>C, NM_004165.2:c.*86G>T, NM_004165.2:c.*86G>C, NM_001128850.2:c.*86G>T, NM_001128850.2:c.*86G>C, NM_001128850.1:c.*86G>T, NM_001128850.1:c.*86G>C

Select item 14900148459.

rs1490014845 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:66923585 (GRCh38)
16:66957489 (GRCh37)
Canonical SPDI:: NC_000016.10:66923585:T:TT
Gene:: RRAD (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.66923586dup, NC_000016.9:g.66957489dup, NM_004165.3:c.579dup, NM_004165.2:c.579dup, NM_001128850.2:c.579dup, NM_001128850.1:c.579dup, NP_004156.1:p.Asp194fs, NP_001122322.1:p.Asp194fs

Select item 148991151910.

rs1489911519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66923270 (GRCh38)
16:66957173 (GRCh37)
Canonical SPDI:: NC_000016.10:66923269:A:G
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66923270A>G, NC_000016.9:g.66957173A>G

Select item 148942780311.

rs1489427803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66925320 (GRCh38)
16:66959223 (GRCh37)
Canonical SPDI:: NC_000016.10:66925319:C:T
Gene:: RRAD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66925320C>T, NC_000016.9:g.66959223C>T

Select item 148921833812.

rs1489218338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:66925458 (GRCh38)
16:66959361 (GRCh37)
Canonical SPDI:: NC_000016.10:66925457:C:A
Gene:: RRAD (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.66925458C>A, NC_000016.9:g.66959361C>A, NM_004165.3:c.-65G>T, NM_004165.2:c.-65G>T, NM_001128850.2:c.-74G>T, NM_001128850.1:c.-74G>T

Select item 148899243913.

rs1488992439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:66927041 (GRCh38)
16:66960944 (GRCh37)
Canonical SPDI:: NC_000016.10:66927040:T:A
Gene:: RRAD (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_000016.10:g.66927041T>A, NC_000016.9:g.66960944T>A

Select item 148878715814.

rs1488787158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66924097 (GRCh38)
16:66958000 (GRCh37)
Canonical SPDI:: NC_000016.10:66924096:C:T
Gene:: RRAD (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_000016.10:g.66924097C>T, NC_000016.9:g.66958000C>T

Select item 148837937515.

rs1488379375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66925801 (GRCh38)
16:66959704 (GRCh37)
Canonical SPDI:: NC_000016.10:66925800:G:T
Gene:: RRAD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66925801G>T, NC_000016.9:g.66959704G>T

Select item 148768224816.

rs1487682248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:66921676 (GRCh38)
16:66955579 (GRCh37)
Canonical SPDI:: NC_000016.10:66921675:A:G,NC_000016.10:66921675:A:T
Gene:: RRAD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66921676A>G, NC_000016.10:g.66921676A>T, NC_000016.9:g.66955579A>G, NC_000016.9:g.66955579A>T

Select item 148764588917.

rs1487645889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66921773 (GRCh38)
16:66955676 (GRCh37)
Canonical SPDI:: NC_000016.10:66921772:G:T
Gene:: RRAD (Varview)
Functional Consequence:: 3_prime_UTR_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_000016.10:g.66921773G>T, NC_000016.9:g.66955676G>T, NM_004165.3:c.*303C>A, NM_004165.2:c.*303C>A, NM_001128850.2:c.*303C>A, NM_001128850.1:c.*303C>A

Select item 148751527718.

rs1487515277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66925610 (GRCh38)
16:66959513 (GRCh37)
Canonical SPDI:: NC_000016.10:66925609:G:A
Gene:: RRAD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.66925610G>A, NC_000016.9:g.66959513G>A

Select item 148732717519.

rs1487327175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66922154 (GRCh38)
16:66956057 (GRCh37)
Canonical SPDI:: NC_000016.10:66922153:G:A
Gene:: RRAD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000016.10:g.66922154G>A, NC_000016.9:g.66956057G>A, NM_004165.3:c.849C>T, NM_004165.2:c.849C>T, NM_001128850.2:c.849C>T, NM_001128850.1:c.849C>T

Select item 148659303520.

rs1486593035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66921416 (GRCh38)
16:66955319 (GRCh37)
Canonical SPDI:: NC_000016.10:66921415:T:C
Gene:: RRAD (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000016.10:g.66921416T>C, NC_000016.9:g.66955319T>C

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