SNP Links for Gene (Select 203430) - SNP

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Select item 14914992851.

rs1491499285 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: X:78659181 (GRCh38)
X:77914679 (GRCh37)
Canonical SPDI:: NC_000023.11:78659181:GC:GCGC
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCGC=0.00022/1 (ALFA)
GC=0.00003/3 (GnomAD)
HGVS:: NC_000023.11:g.78659182_78659183dup, NC_000023.10:g.77914679_77914680dup, NG_015973.1:g.5146_5147dup

Select item 14914083572.

rs1491408357 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:78659181 (GRCh38)
X:77914678 (GRCh37)
Canonical SPDI:: NC_000023.11:78659180:TG:
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.78659181_78659182del, NC_000023.10:g.77914678_77914679del, NG_015973.1:g.5147_5148del

Select item 14906720153.

rs1490672015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:78657349 (GRCh38)
X:77912846 (GRCh37)
Canonical SPDI:: NC_000023.11:78657348:A:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78657349A>T, NC_000023.10:g.77912846A>T, NG_015973.1:g.6980T>A, NM_152694.3:c.1072T>A, NM_152694.2:c.1072T>A, NP_689907.1:p.Trp358Arg

Select item 14900853194.

rs1490085319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:78660440 (GRCh38)
X:77915937 (GRCh37)
Canonical SPDI:: NC_000023.11:78660439:C:A,NC_000023.11:78660439:C:G
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78660440C>A, NC_000023.11:g.78660440C>G, NC_000023.10:g.77915937C>A, NC_000023.10:g.77915937C>G, NG_015973.1:g.3889G>T, NG_015973.1:g.3889G>C

Select item 14899218065.

rs1489921806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:78660978 (GRCh38)
X:77916475 (GRCh37)
Canonical SPDI:: NC_000023.11:78660977:A:G
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78660978A>G, NC_000023.10:g.77916475A>G, NG_015973.1:g.3351T>C

Select item 14890127986.

rs1489012798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:78658153 (GRCh38)
X:77913650 (GRCh37)
Canonical SPDI:: NC_000023.11:78658152:C:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000114/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.78658153C>T, NC_000023.10:g.77913650C>T, NG_015973.1:g.6176G>A, NM_152694.3:c.268G>A, NM_152694.2:c.268G>A, NP_689907.1:p.Glu90Lys

Select item 14884938267.

rs1488493826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:78660326 (GRCh38)
X:77915823 (GRCh37)
Canonical SPDI:: NC_000023.11:78660325:A:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.78660326A>T, NC_000023.10:g.77915823A>T, NG_015973.1:g.4003T>A

Select item 14883454738.

rs1488345473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:78655926 (GRCh38)
X:77911423 (GRCh37)
Canonical SPDI:: NC_000023.11:78655925:T:A,NC_000023.11:78655925:T:C
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_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.78655926T>A, NC_000023.11:g.78655926T>C, NC_000023.10:g.77911423T>A, NC_000023.10:g.77911423T>C, NG_015973.1:g.8403A>T, NG_015973.1:g.8403A>G

Select item 14861526109.

rs1486152610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:78656818 (GRCh38)
X:77912315 (GRCh37)
Canonical SPDI:: NC_000023.11:78656817:C:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000038/4 (GnomAD)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.78656818C>T, NC_000023.10:g.77912315C>T, NG_015973.1:g.7511G>A, NM_152694.3:c.*175G>A, NM_152694.2:c.*175G>A

Select item 148587426110.

rs1485874261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:78655933 (GRCh38)
X:77911430 (GRCh37)
Canonical SPDI:: NC_000023.11:78655932:C:A
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78655933C>A, NC_000023.10:g.77911430C>A, NG_015973.1:g.8396G>T

Select item 148540031811.

rs1485400318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:78656399 (GRCh38)
X:77911896 (GRCh37)
Canonical SPDI:: NC_000023.11:78656398:T:A
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.78656399T>A, NC_000023.10:g.77911896T>A, NG_015973.1:g.7930A>T, NM_152694.3:c.*594A>T, NM_152694.2:c.*594A>T

Select item 148406015412.

rs1484060154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:78657247 (GRCh38)
X:77912744 (GRCh37)
Canonical SPDI:: NC_000023.11:78657246:G:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.78657247G>T, NC_000023.10:g.77912744G>T, NG_015973.1:g.7082C>A, NM_152694.3:c.1174C>A, NM_152694.2:c.1174C>A, NP_689907.1:p.Leu392Met

Select item 148382036113.

rs1483820361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78660036 (GRCh38)
X:77915533 (GRCh37)
Canonical SPDI:: NC_000023.11:78660035:T:C
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,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.78660036T>C, NC_000023.10:g.77915533T>C, NG_015973.1:g.4293A>G

Select item 148363282514.

rs1483632825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:78659865 (GRCh38)
X:77915362 (GRCh37)
Canonical SPDI:: NC_000023.11:78659864:A:G
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78659865A>G, NC_000023.10:g.77915362A>G, NG_015973.1:g.4464T>C

Select item 148314996915.

rs1483149969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78658640 (GRCh38)
X:77914137 (GRCh37)
Canonical SPDI:: NC_000023.11:78658639:T:C
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.78658640T>C, NC_000023.10:g.77914137T>C, NG_015973.1:g.5689A>G, NM_152694.3:c.-220A>G, NM_152694.2:c.-220A>G

Select item 148187536616.

rs1481875366 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:78659157 (GRCh38)
X:77914654 (GRCh37)
Canonical SPDI:: NC_000023.11:78659155:AAA:A
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00016/2 (GnomAD)
HGVS:: NC_000023.11:g.78659157_78659158del, NC_000023.10:g.77914654_77914655del, NG_015973.1:g.5172_5173del

Select item 148001078917.

rs1480010789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:78657630 (GRCh38)
X:77913127 (GRCh37)
Canonical SPDI:: NC_000023.11:78657629:A:T
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78657630A>T, NC_000023.10:g.77913127A>T, NG_015973.1:g.6699T>A, NM_152694.3:c.791T>A, NM_152694.2:c.791T>A, NP_689907.1:p.Val264Asp

Select item 147987803818.

rs1479878038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:78659392 (GRCh38)
X:77914889 (GRCh37)
Canonical SPDI:: NC_000023.11:78659391:A:C,NC_000023.11:78659391:A:G
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.78659392A>C, NC_000023.11:g.78659392A>G, NC_000023.10:g.77914889A>C, NC_000023.10:g.77914889A>G, NG_015973.1:g.4937T>G, NG_015973.1:g.4937T>C

Select item 147952246319.

rs1479522463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:78659812 (GRCh38)
X:77915309 (GRCh37)
Canonical SPDI:: NC_000023.11:78659811:A:G
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.78659812A>G, NC_000023.10:g.77915309A>G, NG_015973.1:g.4517T>C

Select item 147947080820.

rs1479470808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:78661135 (GRCh38)
X:77916632 (GRCh37)
Canonical SPDI:: NC_000023.11:78661134:C:A
Gene:: RTL3 (Varview), LOC107985670 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.78661135C>A, NC_000023.10:g.77916632C>A, NG_015973.1:g.3194G>T

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