SNP Links for Gene (Select 340526) - SNP

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Select item 14905012761.

rs1490501276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72127001 (GRCh38)
X:71346851 (GRCh37)
Canonical SPDI:: NC_000023.11:72127000:A:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.72127001A>G, NC_000023.10:g.71346851A>G, NG_029583.1:g.220914A>G, NG_021352.1:g.9901T>C

Select item 14903385442.

rs1490338544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72127883 (GRCh38)
X:71347733 (GRCh37)
Canonical SPDI:: NC_000023.11:72127882:G:A
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72127883G>A, NC_000023.10:g.71347733G>A, NG_029583.1:g.221796G>A, NG_021352.1:g.9019C>T, NM_001405151.1:c.*1948C>T

Select item 14902798053.

rs1490279805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72129529 (GRCh38)
X:71349379 (GRCh37)
Canonical SPDI:: NC_000023.11:72129528:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72129529C>T, NC_000023.10:g.71349379C>T, NG_029583.1:g.223442C>T, NG_021352.1:g.7373G>A, NM_001024455.4:c.*302G>A, NM_001024455.3:c.*302G>A, NM_001405151.1:c.*302G>A

Select item 14895345554.

rs1489534555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:72132214 (GRCh38)
X:71352064 (GRCh37)
Canonical SPDI:: NC_000023.11:72132213:A:G,NC_000023.11:72132213:A:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000057/6 (GnomAD_exomes)
G=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.72132214A>G, NC_000023.11:g.72132214A>T, NC_000023.10:g.71352064A>G, NC_000023.10:g.71352064A>T, NG_029583.1:g.226127A>G, NG_029583.1:g.226127A>T, NM_001013627.2:c.416A>G, NM_001013627.2:c.416A>T, NM_001013627.3:c.416A>G, NM_001013627.3:c.416A>T, NG_021352.1:g.4688T>C, NG_021352.1:g.4688T>A, XM_011530934.3:c.-146A>G, XM_011530934.3:c.-146A>T, XM_011530934.2:c.-146A>G, XM_011530934.2:c.-146A>T, XM_011530934.1:c.-146A>G, XM_011530934.1:c.-146A>T, XM_011530933.2:c.485A>G, XM_011530933.2:c.485A>T, XM_011530933.1:c.485A>G, XM_011530933.1:c.485A>T, XM_011530932.2:c.485A>G, XM_011530932.2:c.485A>T, XM_011530932.1:c.485A>G, XM_011530932.1:c.485A>T, XM_047442067.1:c.203A>G, XM_047442067.1:c.203A>T, XM_047442064.1:c.485A>G, XM_047442064.1:c.485A>T, XM_047442065.1:c.485A>G, XM_047442065.1:c.485A>T, NP_001013649.2:p.Asn139Ser, NP_001013649.2:p.Asn139Ile, XP_011529235.1:p.Asn162Ser, XP_011529235.1:p.Asn162Ile, XP_011529234.1:p.Asn162Ser, XP_011529234.1:p.Asn162Ile, XP_047298023.1:p.Asn68Ser, XP_047298023.1:p.Asn68Ile, XP_047298020.1:p.Asn162Ser, XP_047298020.1:p.Asn162Ile, XP_047298021.1:p.Asn162Ser, XP_047298021.1:p.Asn162Ile

Select item 14894053895.

rs1489405389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72130828 (GRCh38)
X:71350678 (GRCh37)
Canonical SPDI:: NC_000023.11:72130827:T:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.72130828T>G, NC_000023.10:g.71350678T>G, NG_029583.1:g.224741T>G, NG_021352.1:g.6074A>C, NM_001024455.4:c.713A>C, NM_001024455.3:c.713A>C, NM_001405151.1:c.713A>C, NP_001019626.1:p.Lys238Thr

Select item 14889934436.

rs1488993443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72130449 (GRCh38)
X:71350299 (GRCh37)
Canonical SPDI:: NC_000023.11:72130448:C:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.72130449C>G, NC_000023.10:g.71350299C>G, NG_029583.1:g.224362C>G, NG_021352.1:g.6453G>C, NM_001024455.4:c.1092G>C, NM_001024455.3:c.1092G>C, NM_001405151.1:c.1092G>C, NP_001019626.1:p.Lys364Asn

Select item 14889469157.

rs1488946915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72131461 (GRCh38)
X:71351311 (GRCh37)
Canonical SPDI:: NC_000023.11:72131460:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.72131461C>T, NC_000023.10:g.71351311C>T, NG_029583.1:g.225374C>T, NG_021352.1:g.5441G>A, NM_001024455.4:c.80G>A, NM_001024455.3:c.80G>A, NM_001405151.1:c.80G>A, NP_001019626.1:p.Gly27Glu

Select item 14875454898.

rs1487545489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72126980 (GRCh38)
X:71346830 (GRCh37)
Canonical SPDI:: NC_000023.11:72126979:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72126980C>T, NC_000023.10:g.71346830C>T, NG_029583.1:g.220893C>T, NG_021352.1:g.9922G>A

Select item 14868449839.

rs1486844983 has merged into rs1182989464 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGCGGGC>-,GGGC,GGGCGGGCGGGC [Show Flanks]
Chromosome:: X:72131860 (GRCh38)
X:71351710 (GRCh37)
Canonical SPDI:: NC_000023.11:72131850:CGGGCGGGCGGGCGGGC:CGGGCGGGC,NC_000023.11:72131850:CGGGCGGGCGGGCGGGC:CGGGCGGGCGGGC,NC_000023.11:72131850:CGGGCGGGCGGGCGGGC:CGGGCGGGCGGGCGGGCGGGC
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGCGGGCGGGC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
CGGG=0.00036/5 (TOMMO)
CGGG=0.00437/21 (1000Genomes)
HGVS:: NC_000023.11:g.72131852GGGC[2], NC_000023.11:g.72131852GGGC[3], NC_000023.11:g.72131852GGGC[5], NC_000023.10:g.71351702GGGC[2], NC_000023.10:g.71351702GGGC[3], NC_000023.10:g.71351702GGGC[5], NG_029583.1:g.225765GGGC[2], NG_029583.1:g.225765GGGC[3], NG_029583.1:g.225765GGGC[5], NG_021352.1:g.5036CCCG[2], NG_021352.1:g.5036CCCG[3], NG_021352.1:g.5036CCCG[5], NM_001024455.4:c.-326CCCG[2], NM_001024455.4:c.-326CCCG[3], NM_001024455.4:c.-326CCCG[5], NM_001024455.3:c.-326CCCG[2], NM_001024455.3:c.-326CCCG[3], NM_001024455.3:c.-326CCCG[5], NM_001405151.1:c.-326CCCG[2], NM_001405151.1:c.-326CCCG[3], NM_001405151.1:c.-326CCCG[5]

Select item 148678260610.

rs1486782606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:72133082 (GRCh38)
X:71352932 (GRCh37)
Canonical SPDI:: NC_000023.11:72133081:T:C
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72133082T>C, NC_000023.10:g.71352932T>C, NG_029583.1:g.226995T>C, NG_021352.1:g.3820A>G

Select item 148558211711.

rs1485582117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:72128584 (GRCh38)
X:71348434 (GRCh37)
Canonical SPDI:: NC_000023.11:72128583:C:A,NC_000023.11:72128583:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.72128584C>A, NC_000023.11:g.72128584C>T, NC_000023.10:g.71348434C>A, NC_000023.10:g.71348434C>T, NG_029583.1:g.222497C>A, NG_029583.1:g.222497C>T, NG_021352.1:g.8318G>T, NG_021352.1:g.8318G>A, NM_001024455.4:c.*1247G>T, NM_001024455.4:c.*1247G>A, NM_001024455.3:c.*1247G>T, NM_001024455.3:c.*1247G>A, NM_001405151.1:c.*1247G>T, NM_001405151.1:c.*1247G>A

Select item 148336930812.

rs1483369308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72131553 (GRCh38)
X:71351403 (GRCh37)
Canonical SPDI:: NC_000023.11:72131552:A:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72131553A>G, NC_000023.10:g.71351403A>G, NG_029583.1:g.225466A>G, NG_021352.1:g.5349T>C, NM_001024455.4:c.-13T>C, NM_001024455.3:c.-13T>C, NM_001405151.1:c.-13T>C

Select item 148134202513.

rs1481342025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72133477 (GRCh38)
X:71353327 (GRCh37)
Canonical SPDI:: NC_000023.11:72133476:G:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.72133477G>T, NC_000023.10:g.71353327G>T, NG_029583.1:g.227390G>T, NG_021352.1:g.3425C>A

Select item 148101308114.

rs1481013081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:72129012 (GRCh38)
X:71348862 (GRCh37)
Canonical SPDI:: NC_000023.11:72129011:C:G,NC_000023.11:72129011:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72129012C>G, NC_000023.11:g.72129012C>T, NC_000023.10:g.71348862C>G, NC_000023.10:g.71348862C>T, NG_029583.1:g.222925C>G, NG_029583.1:g.222925C>T, NG_021352.1:g.7890G>C, NG_021352.1:g.7890G>A, NM_001024455.4:c.*819G>C, NM_001024455.4:c.*819G>A, NM_001024455.3:c.*819G>C, NM_001024455.3:c.*819G>A, NM_001405151.1:c.*819G>C, NM_001405151.1:c.*819G>A

Select item 148073715415.

rs1480737154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:72128924 (GRCh38)
X:71348774 (GRCh37)
Canonical SPDI:: NC_000023.11:72128923:T:C
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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.72128924T>C, NC_000023.10:g.71348774T>C, NG_029583.1:g.222837T>C, NG_021352.1:g.7978A>G, NM_001024455.4:c.*907A>G, NM_001024455.3:c.*907A>G, NM_001405151.1:c.*907A>G

Select item 148035800716.

rs1480358007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72127994 (GRCh38)
X:71347844 (GRCh37)
Canonical SPDI:: NC_000023.11:72127993:T:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.72127994T>G, NC_000023.10:g.71347844T>G, NG_029583.1:g.221907T>G, NG_021352.1:g.8908A>C, NM_001405151.1:c.*1837A>C

Select item 148012449917.

rs1480124499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72130392 (GRCh38)
X:71350242 (GRCh37)
Canonical SPDI:: NC_000023.11:72130391:C:G
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72130392C>G, NC_000023.10:g.71350242C>G, NG_029583.1:g.224305C>G, NG_021352.1:g.6510G>C, NM_001024455.4:c.1149G>C, NM_001024455.3:c.1149G>C, NM_001405151.1:c.1149G>C, NP_001019626.1:p.Lys383Asn

Select item 147905134418.

rs1479051344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72131834 (GRCh38)
X:71351684 (GRCh37)
Canonical SPDI:: NC_000023.11:72131833:G:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.72131834G>T, NC_000023.10:g.71351684G>T, NG_029583.1:g.225747G>T, NG_021352.1:g.5068C>A, NM_001024455.4:c.-294C>A, NM_001024455.3:c.-294C>A, NM_001405151.1:c.-294C>A

Select item 147890334019.

rs1478903340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72127634 (GRCh38)
X:71347484 (GRCh37)
Canonical SPDI:: NC_000023.11:72127633:C:T
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000225/3 (TOMMO)
HGVS:: NC_000023.11:g.72127634C>T, NC_000023.10:g.71347484C>T, NG_029583.1:g.221547C>T, NG_021352.1:g.9268G>A, NM_001024455.4:c.*1744G>A, NM_001024455.3:c.*1744G>A, NM_001405151.1:c.*2197G>A

Select item 147834067220.

rs1478340672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72132007 (GRCh38)
X:71351857 (GRCh37)
Canonical SPDI:: NC_000023.11:72132006:G:A
Gene:: RTL5 (Varview), NHSL2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.72132007G>A, NC_000023.10:g.71351857G>A, NG_029583.1:g.225920G>A, NG_021352.1:g.4895C>T

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