SNP Links for Gene (Select 23551) - SNP

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Select item 14913557571.

rs1491355757 has merged into rs397838574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:35550449 (GRCh38)
22:35946496 (GRCh37)
Canonical SPDI:: NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000022.11:g.35550449_35550464del, NC_000022.11:g.35550452_35550464del, NC_000022.11:g.35550453_35550464del, NC_000022.11:g.35550455_35550464del, NC_000022.11:g.35550456_35550464del, NC_000022.11:g.35550457_35550464del, NC_000022.11:g.35550458_35550464del, NC_000022.11:g.35550459_35550464del, NC_000022.11:g.35550460_35550464del, NC_000022.11:g.35550461_35550464del, NC_000022.11:g.35550462_35550464del, NC_000022.11:g.35550463_35550464del, NC_000022.11:g.35550464del, NC_000022.11:g.35550464dup, NC_000022.11:g.35550463_35550464dup, NC_000022.11:g.35550462_35550464dup, NC_000022.11:g.35550461_35550464dup, NC_000022.11:g.35550460_35550464dup, NC_000022.11:g.35550459_35550464dup, NC_000022.11:g.35550458_35550464dup, NC_000022.11:g.35550457_35550464dup, NC_000022.11:g.35550455_35550464dup, NC_000022.10:g.35946496_35946511del, NC_000022.10:g.35946499_35946511del, NC_000022.10:g.35946500_35946511del, NC_000022.10:g.35946502_35946511del, NC_000022.10:g.35946503_35946511del, NC_000022.10:g.35946504_35946511del, NC_000022.10:g.35946505_35946511del, NC_000022.10:g.35946506_35946511del, NC_000022.10:g.35946507_35946511del, NC_000022.10:g.35946508_35946511del, NC_000022.10:g.35946509_35946511del, NC_000022.10:g.35946510_35946511del, NC_000022.10:g.35946511del, NC_000022.10:g.35946511dup, NC_000022.10:g.35946510_35946511dup, NC_000022.10:g.35946509_35946511dup, NC_000022.10:g.35946508_35946511dup, NC_000022.10:g.35946507_35946511dup, NC_000022.10:g.35946506_35946511dup, NC_000022.10:g.35946505_35946511dup, NC_000022.10:g.35946504_35946511dup, NC_000022.10:g.35946502_35946511dup

Select item 14913478542.

rs1491347854 has merged into rs397838574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:35550449 (GRCh38)
22:35946496 (GRCh37)
Canonical SPDI:: NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35550440:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000022.11:g.35550449_35550464del, NC_000022.11:g.35550452_35550464del, NC_000022.11:g.35550453_35550464del, NC_000022.11:g.35550455_35550464del, NC_000022.11:g.35550456_35550464del, NC_000022.11:g.35550457_35550464del, NC_000022.11:g.35550458_35550464del, NC_000022.11:g.35550459_35550464del, NC_000022.11:g.35550460_35550464del, NC_000022.11:g.35550461_35550464del, NC_000022.11:g.35550462_35550464del, NC_000022.11:g.35550463_35550464del, NC_000022.11:g.35550464del, NC_000022.11:g.35550464dup, NC_000022.11:g.35550463_35550464dup, NC_000022.11:g.35550462_35550464dup, NC_000022.11:g.35550461_35550464dup, NC_000022.11:g.35550460_35550464dup, NC_000022.11:g.35550459_35550464dup, NC_000022.11:g.35550458_35550464dup, NC_000022.11:g.35550457_35550464dup, NC_000022.11:g.35550455_35550464dup, NC_000022.10:g.35946496_35946511del, NC_000022.10:g.35946499_35946511del, NC_000022.10:g.35946500_35946511del, NC_000022.10:g.35946502_35946511del, NC_000022.10:g.35946503_35946511del, NC_000022.10:g.35946504_35946511del, NC_000022.10:g.35946505_35946511del, NC_000022.10:g.35946506_35946511del, NC_000022.10:g.35946507_35946511del, NC_000022.10:g.35946508_35946511del, NC_000022.10:g.35946509_35946511del, NC_000022.10:g.35946510_35946511del, NC_000022.10:g.35946511del, NC_000022.10:g.35946511dup, NC_000022.10:g.35946510_35946511dup, NC_000022.10:g.35946509_35946511dup, NC_000022.10:g.35946508_35946511dup, NC_000022.10:g.35946507_35946511dup, NC_000022.10:g.35946506_35946511dup, NC_000022.10:g.35946505_35946511dup, NC_000022.10:g.35946504_35946511dup, NC_000022.10:g.35946502_35946511dup

Select item 14912634353.

rs1491263435 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:35550440 (GRCh38)
22:35946487 (GRCh37)
Canonical SPDI:: NC_000022.11:35550439:CA:
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000022.11:g.35550440_35550441del, NC_000022.10:g.35946487_35946488del

Select item 14907954314.

rs1490795431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35547430 (GRCh38)
22:35943477 (GRCh37)
Canonical SPDI:: NC_000022.11:35547429:C:T
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35547430C>T, NC_000022.10:g.35943477C>T

Select item 14904843685.

rs1490484368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35543427 (GRCh38)
22:35939474 (GRCh37)
Canonical SPDI:: NC_000022.11:35543426:A:G
Gene:: RASD2 (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_000022.11:g.35543427A>G, NC_000022.10:g.35939474A>G

Select item 14901801156.

rs1490180115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35552052 (GRCh38)
22:35948099 (GRCh37)
Canonical SPDI:: NC_000022.11:35552051:G:A
Gene:: RASD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.35552052G>A, NC_000022.10:g.35948099G>A, NM_014310.4:c.*20G>A, NM_014310.3:c.*20G>A, XM_011530040.3:c.*20G>A, XM_011530040.2:c.*20G>A, XM_011530040.1:c.*20G>A, XM_017028702.2:c.*20G>A, XM_017028702.1:c.*20G>A, NM_001376515.1:c.*20G>A, NM_001376516.1:c.*20G>A, NM_001366725.1:c.*20G>A

Select item 14900902407.

rs1490090240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:35550131 (GRCh38)
22:35946178 (GRCh37)
Canonical SPDI:: NC_000022.11:35550130:T:A
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35550131T>A, NC_000022.10:g.35946178T>A

Select item 14899540678.

rs1489954067 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGTGGGCCTGC>- [Show Flanks]
Chromosome:: 22:35548429 (GRCh38)
22:35944476 (GRCh37)
Canonical SPDI:: NC_000022.11:35548425:TGCAAGTGGGCCTGC:TGC
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.35548429_35548440del, NC_000022.10:g.35944476_35944487del

Select item 14898161239.

rs1489816123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35549177 (GRCh38)
22:35945224 (GRCh37)
Canonical SPDI:: NC_000022.11:35549176:C:T
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.35549177C>T, NC_000022.10:g.35945224C>T

Select item 148968560910.

rs1489685609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35540980 (GRCh38)
22:35937027 (GRCh37)
Canonical SPDI:: NC_000022.11:35540979:C:T
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_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_000022.11:g.35540980C>T, NC_000022.10:g.35937027C>T, NM_014310.4:c.-530C>T

Select item 148965389011.

rs1489653890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35541970 (GRCh38)
22:35938017 (GRCh37)
Canonical SPDI:: NC_000022.11:35541969:G:A
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.35541970G>A, NC_000022.10:g.35938017G>A, XM_011530040.3:c.-573G>A, XM_011530040.2:c.-573G>A, XM_011530040.1:c.-573G>A, XM_017028702.2:c.-660G>A, XM_017028702.1:c.-660G>A

Select item 148944029112.

rs1489440291 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 22:35550099 (GRCh38)
22:35946146 (GRCh37)
Canonical SPDI:: NC_000022.11:35550098:AAAAAA:AAAAA
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000783/11 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.00102/270 (TOPMED)
-=0.00105/147 (GnomAD)
HGVS:: NC_000022.11:g.35550104del, NC_000022.10:g.35946151del

Select item 148911820313.

rs1489118203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35551835 (GRCh38)
22:35947882 (GRCh37)
Canonical SPDI:: NC_000022.11:35551834:C:T
Gene:: RASD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.35551835C>T, NC_000022.10:g.35947882C>T, NM_014310.4:c.604C>T, NM_014310.3:c.604C>T, XM_011530040.3:c.604C>T, XM_011530040.2:c.604C>T, XM_011530040.1:c.604C>T, XM_017028702.2:c.604C>T, XM_017028702.1:c.604C>T, NM_001376515.1:c.604C>T, NM_001376516.1:c.604C>T, NM_001366725.1:c.604C>T, NP_055125.2:p.Arg202Cys, XP_011528342.1:p.Arg202Cys, XP_016884191.1:p.Arg202Cys, NP_001363444.1:p.Arg202Cys, NP_001363445.1:p.Arg202Cys, NP_001353654.1:p.Arg202Cys

Select item 148909390314.

rs1489093903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35546059 (GRCh38)
22:35942106 (GRCh37)
Canonical SPDI:: NC_000022.11:35546058:G:A
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000022.11:g.35546059G>A, NC_000022.10:g.35942106G>A

Select item 148906276215.

rs1489062762 [Homo sapiens]

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

Select item 148900516616.

rs1489005166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35541071 (GRCh38)
22:35937118 (GRCh37)
Canonical SPDI:: NC_000022.11:35541070:C:T
Gene:: RASD2 (Varview)
Functional Consequence:: intron_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_000022.11:g.35541071C>T, NC_000022.10:g.35937118C>T, NM_014310.4:c.-439C>T

Select item 148895410817.

rs1488954108 has merged into rs988263382 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 22:35540487 (GRCh38)
22:35936534 (GRCh37)
Canonical SPDI:: NC_000022.11:35540486:GGGGGG:GGGGG,NC_000022.11:35540486:GGGGGG:GGGGGGG
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
HGVS:: NC_000022.11:g.35540492del, NC_000022.11:g.35540492dup, NC_000022.10:g.35936539del, NC_000022.10:g.35936539dup

Select item 148842879818.

rs1488428798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35552584 (GRCh38)
22:35948631 (GRCh37)
Canonical SPDI:: NC_000022.11:35552583:T:C
Gene:: RASD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.35552584T>C, NC_000022.10:g.35948631T>C, NM_014310.4:c.*552T>C, NM_014310.3:c.*552T>C, XM_011530040.3:c.*552T>C, XM_011530040.2:c.*552T>C, XM_011530040.1:c.*552T>C, XM_017028702.2:c.*552T>C, XM_017028702.1:c.*552T>C, NM_001376515.1:c.*552T>C, NM_001376516.1:c.*552T>C, NM_001366725.1:c.*552T>C

Select item 148831143519.

rs1488311435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:35539809 (GRCh38)
22:35935856 (GRCh37)
Canonical SPDI:: NC_000022.11:35539808:T:C
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35539809T>C, NC_000022.10:g.35935856T>C

Select item 148811663120.

rs1488116631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:35542474 (GRCh38)
22:35938521 (GRCh37)
Canonical SPDI:: NC_000022.11:35542473:G:A
Gene:: RASD2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.35542474G>A, NC_000022.10:g.35938521G>A, XM_011530040.3:c.-156G>A, XM_011530040.2:c.-156G>A, XM_011530040.1:c.-156G>A, XM_017028702.2:c.-156G>A, XM_017028702.1:c.-156G>A

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