SNP Links for Gene (Select 8933) - SNP

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Select item 14901636611.

rs1490163661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAT>- [Show Flanks]
Chromosome:: X:135033863 (GRCh38)
X:134167893 (GRCh37)
Canonical SPDI:: NC_000023.11:135033859:CATACAT:CAT
Gene:: RTL8C (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000125/33 (TOPMED)
HGVS:: NC_000023.11:g.135033863_135033866del, NC_000023.10:g.134167893_134167896del

Select item 14879277462.

rs1487927746 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:135032380 (GRCh38)
X:134166410 (GRCh37)
Canonical SPDI:: NC_000023.11:135032379:A:
Gene:: RTL8C (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.135032380del, NC_000023.10:g.134166410del, NM_001078171.2:c.-4del, NM_001078171.1:c.-4del, NM_003928.1:c.-321del

Select item 14855059533.

rs1485505953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135033007 (GRCh38)
X:134167037 (GRCh37)
Canonical SPDI:: NC_000023.11:135033006:T:G
Gene:: RTL8C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000198/3 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135033007T>G, NC_000023.10:g.134167037T>G, NM_001078171.2:c.*282T>G, NM_001078171.1:c.*282T>G, NM_003928.1:c.307T>G

Select item 14839627504.

rs1483962750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135031099 (GRCh38)
X:134165129 (GRCh37)
Canonical SPDI:: NC_000023.11:135031098:G:A
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000019/5 (TOPMED)
A=0.044208/129 (KOREAN)
HGVS:: NC_000023.11:g.135031099G>A, NC_000023.10:g.134165129G>A

Select item 14836284825.

rs1483628482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:135031901 (GRCh38)
X:134165931 (GRCh37)
Canonical SPDI:: NC_000023.11:135031900:T:A
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.135031901T>A, NC_000023.10:g.134165931T>A

Select item 14835679176.

rs1483567917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135030376 (GRCh38)
X:134164406 (GRCh37)
Canonical SPDI:: NC_000023.11:135030375:A:G
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.135030376A>G, NC_000023.10:g.134164406A>G

Select item 14835542837.

rs1483554283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135031259 (GRCh38)
X:134165289 (GRCh37)
Canonical SPDI:: NC_000023.11:135031258:T:C
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135031259T>C, NC_000023.10:g.134165289T>C

Select item 14831686138.

rs1483168613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135030592 (GRCh38)
X:134164622 (GRCh37)
Canonical SPDI:: NC_000023.11:135030591:G:A
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000048/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.135030592G>A, NC_000023.10:g.134164622G>A

Select item 14791062209.

rs1479106220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135030319 (GRCh38)
X:134164349 (GRCh37)
Canonical SPDI:: NC_000023.11:135030318:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135030319A>G, NC_000023.10:g.134164349A>G

Select item 147894955810.

rs1478949558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135031888 (GRCh38)
X:134165918 (GRCh37)
Canonical SPDI:: NC_000023.11:135031887:G:A,NC_000023.11:135031887:G:T
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135031888G>A, NC_000023.11:g.135031888G>T, NC_000023.10:g.134165918G>A, NC_000023.10:g.134165918G>T

Select item 147679672111.

rs1476796721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135031832 (GRCh38)
X:134165862 (GRCh37)
Canonical SPDI:: NC_000023.11:135031831:T:C
Gene:: RTL8C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135031832T>C, NC_000023.10:g.134165862T>C

Select item 147348920912.

rs1473489209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:135031251 (GRCh38)
X:134165281 (GRCh37)
Canonical SPDI:: NC_000023.11:135031250:G:A,NC_000023.11:135031250:G:C
Gene:: RTL8C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/3 (GnomAD)
A=0.125/6 (Vietnamese)
HGVS:: NC_000023.11:g.135031251G>A, NC_000023.11:g.135031251G>C, NC_000023.10:g.134165281G>A, NC_000023.10:g.134165281G>C

Select item 147315644213.

rs1473156442 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:135032010 (GRCh38)
X:134166040 (GRCh37)
Canonical SPDI:: NC_000023.11:135032008:AGA:A
Gene:: RTL8C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.135032010_135032011del, NC_000023.10:g.134166040_134166041del

Select item 147272239514.

rs1472722395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135032146 (GRCh38)
X:134166176 (GRCh37)
Canonical SPDI:: NC_000023.11:135032145:G:A,NC_000023.11:135032145:G:T
Gene:: RTL8C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135032146G>A, NC_000023.11:g.135032146G>T, NC_000023.10:g.134166176G>A, NC_000023.10:g.134166176G>T

Select item 147070771615.

rs1470707716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:135032075 (GRCh38)
X:134166105 (GRCh37)
Canonical SPDI:: NC_000023.11:135032074:T:A
Gene:: RTL8C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135032075T>A, NC_000023.10:g.134166105T>A

Select item 147059957716.

rs1470599577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135032754 (GRCh38)
X:134166784 (GRCh37)
Canonical SPDI:: NC_000023.11:135032753:G:A
Gene:: RTL8C (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000023.11:g.135032754G>A, NC_000023.10:g.134166784G>A, NM_001078171.2:c.*29G>A, NM_001078171.1:c.*29G>A, NM_003928.1:c.54G>A

Select item 147047678317.

rs1470476783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135033617 (GRCh38)
X:134167647 (GRCh37)
Canonical SPDI:: NC_000023.11:135033616:A:G
Gene:: RTL8C (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135033617A>G, NC_000023.10:g.134167647A>G

Select item 146667428518.

rs1466674285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135032739 (GRCh38)
X:134166769 (GRCh37)
Canonical SPDI:: NC_000023.11:135032738:C:T
Gene:: RTL8C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135032739C>T, NC_000023.10:g.134166769C>T, NM_001078171.2:c.*14C>T, NM_001078171.1:c.*14C>T, NM_003928.1:c.39C>T

Select item 146410948819.

rs1464109488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135032975 (GRCh38)
X:134167005 (GRCh37)
Canonical SPDI:: NC_000023.11:135032974:C:T
Gene:: RTL8C (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135032975C>T, NC_000023.10:g.134167005C>T, NM_001078171.2:c.*250C>T, NM_001078171.1:c.*250C>T, NM_003928.1:c.275C>T

Select item 146409204620.

rs1464092046 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:135031434 (GRCh38)
X:134165464 (GRCh37)
Canonical SPDI:: NC_000023.11:135031430:AGAGA:AGA
Gene:: RTL8C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000086/9 (GnomAD)
HGVS:: NC_000023.11:g.135031432GA[1], NC_000023.10:g.134165462GA[1]

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