SNP Links for Gene (Select 139804) - SNP

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Select item 14906389041.

rs1490638904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:115189574 (GRCh38)
X:114424137 (GRCh37)
Canonical SPDI:: NC_000023.11:115189573:A:C
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.115189574A>C, NW_004070891.1:g.858376A>C, NG_021299.2:g.49499T>G, NC_000023.10:g.114424137A>C, NM_001145346.2:c.133A>C, NM_001145346.1:c.133A>C, NP_001138818.1:p.Thr45Pro

Select item 14903094522.

rs1490309452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115188385 (GRCh38)
X:114422948 (GRCh37)
Canonical SPDI:: NC_000023.11:115188384:G:A
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000103/13 (GnomAD_exomes)
A=0.000484/128 (TOPMED)
A=0.00051/53 (GnomAD)
HGVS:: NC_000023.11:g.115188385G>A, NW_004070891.1:g.857187G>A, NG_021299.2:g.50688C>T, NC_000023.10:g.114422948G>A

Select item 14896594093.

rs1489659409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115189594 (GRCh38)
X:114424157 (GRCh37)
Canonical SPDI:: NC_000023.11:115189593:C:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.115189594C>T, NW_004070891.1:g.858396C>T, NG_021299.2:g.49479G>A, NC_000023.10:g.114424157C>T, NM_001145346.2:c.153C>T, NM_001145346.1:c.153C>T

Select item 14886984354.

rs1488698435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115189087 (GRCh38)
X:114423650 (GRCh37)
Canonical SPDI:: NC_000023.11:115189086:C:T
Gene:: LRCH2 (Varview), RBMXL3 (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=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.115189087C>T, NW_004070891.1:g.857889C>T, NG_021299.2:g.49986G>A, NC_000023.10:g.114423650C>T

Select item 14871325685.

rs1487132568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115192283 (GRCh38)
X:114426846 (GRCh37)
Canonical SPDI:: NC_000023.11:115192282:C:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/4 (GnomAD_exomes)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.115192283C>T, NW_004070891.1:g.861085C>T, NG_021299.2:g.46790G>A, NC_000023.10:g.114426846C>T, NM_001145346.2:c.2842C>T, NM_001145346.1:c.2842C>T, NM_152425.1:c.1314C>T, NP_001138818.1:p.Arg948Cys

Select item 14868205446.

rs1486820544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115191475 (GRCh38)
X:114426038 (GRCh37)
Canonical SPDI:: NC_000023.11:115191474:T:C
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115191475T>C, NW_004070891.1:g.860277T>C, NG_021299.2:g.47598A>G, NC_000023.10:g.114426038T>C, NM_001145346.2:c.2034T>C, NM_001145346.1:c.2034T>C, NM_152425.1:c.506T>C

Select item 14866114637.

rs1486611463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:115189734 (GRCh38)
X:114424297 (GRCh37)
Canonical SPDI:: NC_000023.11:115189733:C:A
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/4 (GnomAD_exomes)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.115189734C>A, NW_004070891.1:g.858536C>A, NG_021299.2:g.49339G>T, NC_000023.10:g.114424297C>A, NM_001145346.2:c.293C>A, NM_001145346.1:c.293C>A, NP_001138818.1:p.Thr98Asn

Select item 14866018268.

rs1486601826 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:115188394 (GRCh38)
X:114422957 (GRCh37)
Canonical SPDI:: NC_000023.11:115188393:AAA:AA
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.115188396del, NW_004070891.1:g.857198del, NG_021299.2:g.50679del, NC_000023.10:g.114422959del

Select item 14865079549.

rs1486507954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:115192355 (GRCh38)
X:114426918 (GRCh37)
Canonical SPDI:: NC_000023.11:115192354:G:A
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.115192355G>A, NW_004070891.1:g.861157G>A, NG_021299.2:g.46718C>T, NC_000023.10:g.114426918G>A, NM_001145346.2:c.2914G>A, NM_001145346.1:c.2914G>A, NM_152425.1:c.1386G>A, NP_001138818.1:p.Gly972Ser

Select item 148617822510.

rs1486178225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:115192817 (GRCh38)
X:114427380 (GRCh37)
Canonical SPDI:: NC_000023.11:115192816:T:C
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.115192817T>C, NW_004070891.1:g.861619T>C, NG_021299.2:g.46256A>G, NC_000023.10:g.114427380T>C, NM_001145346.2:c.*172T>C, NM_001145346.1:c.*172T>C, NM_152425.1:c.*456T>C

Select item 148611660711.

rs1486116607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115192044 (GRCh38)
X:114426607 (GRCh37)
Canonical SPDI:: NC_000023.11:115192043:C:T
Gene:: LRCH2 (Varview), RBMXL3 (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=0.00001/1 (GnomAD)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.115192044C>T, NW_004070891.1:g.860846C>T, NG_021299.2:g.47029G>A, NC_000023.10:g.114426607C>T, NM_001145346.2:c.2603C>T, NM_001145346.1:c.2603C>T, NM_152425.1:c.1075C>T, NP_001138818.1:p.Ser868Leu

Select item 148541734912.

rs1485417349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:115191079 (GRCh38)
X:114425642 (GRCh37)
Canonical SPDI:: NC_000023.11:115191078:C:A,NC_000023.11:115191078:C:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000009/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.115191079C>A, NC_000023.11:g.115191079C>T, NW_004070891.1:g.859881C>A, NW_004070891.1:g.859881C>T, NG_021299.2:g.47994G>T, NG_021299.2:g.47994G>A, NC_000023.10:g.114425642C>A, NC_000023.10:g.114425642C>T, NM_001145346.2:c.1638C>A, NM_001145346.2:c.1638C>T, NM_001145346.1:c.1638C>A, NM_001145346.1:c.1638C>T, NM_152425.1:c.110C>A, NM_152425.1:c.110C>T

Select item 148355423213.

rs1483554232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:115191026 (GRCh38)
X:114425589 (GRCh37)
Canonical SPDI:: NC_000023.11:115191025:A:G
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
G=0.00149/19 (TOMMO)
G=0.02808/82 (KOREAN)
HGVS:: NC_000023.11:g.115191026A>G, NW_004070891.1:g.859828A>G, NG_021299.2:g.48047T>C, NC_000023.10:g.114425589A>G, NM_001145346.2:c.1585A>G, NM_001145346.1:c.1585A>G, NM_152425.1:c.57A>G, NP_001138818.1:p.Thr529Ala

Select item 148320219314.

rs1483202193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:115193027 (GRCh38)
X:114427590 (GRCh37)
Canonical SPDI:: NC_000023.11:115193026:C:G
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.115193027C>G, NW_004070891.1:g.861829C>G, NG_021299.2:g.46046G>C, NC_000023.10:g.114427590C>G

Select item 148312919415.

rs1483129194 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGG>- [Show Flanks]
Chromosome:: X:115190845 (GRCh38)
X:114425408 (GRCh37)
Canonical SPDI:: NC_000023.11:115190836:GGAGGAGGAGG:GGAGGAGG
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GGAGGAGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.115190839AGG[2], NW_004070891.1:g.859641AGG[2], NG_021299.2:g.48228TCC[2], NC_000023.10:g.114425402AGG[2], NM_001145346.2:c.1398AGG[2], NM_001145346.1:c.1398AGG[2], NM_152425.1:c.-131AGG[2], NP_001138818.1:p.Gly469del

Select item 148308947816.

rs1483089478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:115192047 (GRCh38)
X:114426610 (GRCh37)
Canonical SPDI:: NC_000023.11:115192046:A:C
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00687/20 (KOREAN)
HGVS:: NC_000023.11:g.115192047A>C, NW_004070891.1:g.860849A>C, NG_021299.2:g.47026T>G, NC_000023.10:g.114426610A>C, NM_001145346.2:c.2606A>C, NM_001145346.1:c.2606A>C, NM_152425.1:c.1078A>C, NP_001138818.1:p.His869Pro

Select item 148250872217.

rs1482508722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:115190902 (GRCh38)
X:114425465 (GRCh37)
Canonical SPDI:: NC_000023.11:115190901:G:A,NC_000023.11:115190901:G:C,NC_000023.11:115190901:G:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00002/2 (GnomAD)
A=0.000026/3 (GnomAD_exomes)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.115190902G>A, NC_000023.11:g.115190902G>C, NC_000023.11:g.115190902G>T, NW_004070891.1:g.859704G>A, NW_004070891.1:g.859704G>C, NW_004070891.1:g.859704G>T, NG_021299.2:g.48171C>T, NG_021299.2:g.48171C>G, NG_021299.2:g.48171C>A, NC_000023.10:g.114425465G>A, NC_000023.10:g.114425465G>C, NC_000023.10:g.114425465G>T, NM_001145346.2:c.1461G>A, NM_001145346.2:c.1461G>C, NM_001145346.2:c.1461G>T, NM_001145346.1:c.1461G>A, NM_001145346.1:c.1461G>C, NM_001145346.1:c.1461G>T, NM_152425.1:c.-68G>A, NM_152425.1:c.-68G>C, NM_152425.1:c.-68G>T

Select item 148246766218.

rs1482467662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115190306 (GRCh38)
X:114424869 (GRCh37)
Canonical SPDI:: NC_000023.11:115190305:C:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.115190306C>T, NW_004070891.1:g.859108C>T, NG_021299.2:g.48767G>A, NC_000023.10:g.114424869C>T, NM_001145346.2:c.865C>T, NM_001145346.1:c.865C>T, NP_001138818.1:p.His289Tyr

Select item 148217948419.

rs1482179484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:115191146 (GRCh38)
X:114425709 (GRCh37)
Canonical SPDI:: NC_000023.11:115191145:G:A,NC_000023.11:115191145:G:C
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.012689/37 (KOREAN)
HGVS:: NC_000023.11:g.115191146G>A, NC_000023.11:g.115191146G>C, NW_004070891.1:g.859948G>A, NW_004070891.1:g.859948G>C, NG_021299.2:g.47927C>T, NG_021299.2:g.47927C>G, NC_000023.10:g.114425709G>A, NC_000023.10:g.114425709G>C, NM_001145346.2:c.1705G>A, NM_001145346.2:c.1705G>C, NM_001145346.1:c.1705G>A, NM_001145346.1:c.1705G>C, NM_152425.1:c.177G>A, NM_152425.1:c.177G>C, NP_001138818.1:p.Ala569Thr, NP_001138818.1:p.Ala569Pro

Select item 148186516520.

rs1481865165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:115189430 (GRCh38)
X:114423993 (GRCh37)
Canonical SPDI:: NC_000023.11:115189429:C:T
Gene:: LRCH2 (Varview), RBMXL3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.115189430C>T, NW_004070891.1:g.858232C>T, NG_021299.2:g.49643G>A, NC_000023.10:g.114423993C>T, NM_001145346.2:c.-12C>T, NM_001145346.1:c.-12C>T

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