SNP Links for Nucleotide (Select 216547804) - SNP

Links from Nucleotide

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Select item 14913888641.

rs1491388864 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:71116430 (GRCh38)
X:70336280 (GRCh37)
Canonical SPDI:: NC_000023.11:71116429:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01088/129 (ALFA)
-=0.00149/49 (GnomAD)
HGVS:: NC_000023.11:g.71116430_71116431del, NC_000023.10:g.70336280_70336281del, NG_012808.1:g.2875_2876del, NG_009088.1:g.123_124del

Select item 14913474432.

rs1491347443 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:71116253 (GRCh38)
X:70336103 (GRCh37)
Canonical SPDI:: NC_000023.11:71116252:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.71116253_71116254del, NC_000023.10:g.70336103_70336104del, NG_012808.1:g.2698_2699del, NG_009088.1:g.300_301del

Select item 14912952633.

rs1491295263 has merged into rs370212250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71116436 (GRCh38)
X:70336286 (GRCh37)
Canonical SPDI:: NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116430:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71116436_71116446del, NC_000023.11:g.71116437_71116446del, NC_000023.11:g.71116439_71116446del, NC_000023.11:g.71116440_71116446del, NC_000023.11:g.71116441_71116446del, NC_000023.11:g.71116444_71116446del, NC_000023.11:g.71116445_71116446del, NC_000023.11:g.71116446del, NC_000023.11:g.71116446dup, NC_000023.11:g.71116445_71116446dup, NC_000023.11:g.71116443_71116446dup, NC_000023.11:g.71116432_71116446dup, NC_000023.11:g.71116446_71116447insAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.70336286_70336296del, NC_000023.10:g.70336287_70336296del, NC_000023.10:g.70336289_70336296del, NC_000023.10:g.70336290_70336296del, NC_000023.10:g.70336291_70336296del, NC_000023.10:g.70336294_70336296del, NC_000023.10:g.70336295_70336296del, NC_000023.10:g.70336296del, NC_000023.10:g.70336296dup, NC_000023.10:g.70336295_70336296dup, NC_000023.10:g.70336293_70336296dup, NC_000023.10:g.70336282_70336296dup, NC_000023.10:g.70336296_70336297insAAAAAAAAAAAAAAAAAAAA, NG_012808.1:g.2881_2891del, NG_012808.1:g.2882_2891del, NG_012808.1:g.2884_2891del, NG_012808.1:g.2885_2891del, NG_012808.1:g.2886_2891del, NG_012808.1:g.2889_2891del, NG_012808.1:g.2890_2891del, NG_012808.1:g.2891del, NG_012808.1:g.2891dup, NG_012808.1:g.2890_2891dup, NG_012808.1:g.2888_2891dup, NG_012808.1:g.2877_2891dup, NG_012808.1:g.2891_2892insAAAAAAAAAAAAAAAAAAAA, NG_009088.1:g.113_123del, NG_009088.1:g.114_123del, NG_009088.1:g.116_123del, NG_009088.1:g.117_123del, NG_009088.1:g.118_123del, NG_009088.1:g.121_123del, NG_009088.1:g.122_123del, NG_009088.1:g.123del, NG_009088.1:g.123dup, NG_009088.1:g.122_123dup, NG_009088.1:g.120_123dup, NG_009088.1:g.109_123dup, NG_009088.1:g.123_124insTTTTTTTTTTTTTTTTTTTT

Select item 14911890474.

rs1491189047 has merged into rs57730300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71116263 (GRCh38)
X:70336113 (GRCh37)
Canonical SPDI:: NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71116253:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71116263_71116276del, NC_000023.11:g.71116265_71116276del, NC_000023.11:g.71116266_71116276del, NC_000023.11:g.71116267_71116276del, NC_000023.11:g.71116268_71116276del, NC_000023.11:g.71116269_71116276del, NC_000023.11:g.71116270_71116276del, NC_000023.11:g.71116271_71116276del, NC_000023.11:g.71116272_71116276del, NC_000023.11:g.71116273_71116276del, NC_000023.11:g.71116274_71116276del, NC_000023.11:g.71116275_71116276del, NC_000023.11:g.71116276del, NC_000023.11:g.71116276dup, NC_000023.11:g.71116275_71116276dup, NC_000023.11:g.71116274_71116276dup, NC_000023.11:g.71116273_71116276dup, NC_000023.11:g.71116272_71116276dup, NC_000023.11:g.71116270_71116276dup, NC_000023.11:g.71116268_71116276dup, NC_000023.11:g.71116267_71116276dup, NC_000023.11:g.71116266_71116276dup, NC_000023.11:g.71116265_71116276dup, NC_000023.11:g.71116264_71116276dup, NC_000023.11:g.71116262_71116276dup, NC_000023.11:g.71116261_71116276dup, NC_000023.11:g.71116260_71116276dup, NC_000023.10:g.70336113_70336126del, NC_000023.10:g.70336115_70336126del, NC_000023.10:g.70336116_70336126del, NC_000023.10:g.70336117_70336126del, NC_000023.10:g.70336118_70336126del, NC_000023.10:g.70336119_70336126del, NC_000023.10:g.70336120_70336126del, NC_000023.10:g.70336121_70336126del, NC_000023.10:g.70336122_70336126del, NC_000023.10:g.70336123_70336126del, NC_000023.10:g.70336124_70336126del, NC_000023.10:g.70336125_70336126del, NC_000023.10:g.70336126del, NC_000023.10:g.70336126dup, NC_000023.10:g.70336125_70336126dup, NC_000023.10:g.70336124_70336126dup, NC_000023.10:g.70336123_70336126dup, NC_000023.10:g.70336122_70336126dup, NC_000023.10:g.70336120_70336126dup, NC_000023.10:g.70336118_70336126dup, NC_000023.10:g.70336117_70336126dup, NC_000023.10:g.70336116_70336126dup, NC_000023.10:g.70336115_70336126dup, NC_000023.10:g.70336114_70336126dup, NC_000023.10:g.70336112_70336126dup, NC_000023.10:g.70336111_70336126dup, NC_000023.10:g.70336110_70336126dup, NG_012808.1:g.2708_2721del, NG_012808.1:g.2710_2721del, NG_012808.1:g.2711_2721del, NG_012808.1:g.2712_2721del, NG_012808.1:g.2713_2721del, NG_012808.1:g.2714_2721del, NG_012808.1:g.2715_2721del, NG_012808.1:g.2716_2721del, NG_012808.1:g.2717_2721del, NG_012808.1:g.2718_2721del, NG_012808.1:g.2719_2721del, NG_012808.1:g.2720_2721del, NG_012808.1:g.2721del, NG_012808.1:g.2721dup, NG_012808.1:g.2720_2721dup, NG_012808.1:g.2719_2721dup, NG_012808.1:g.2718_2721dup, NG_012808.1:g.2717_2721dup, NG_012808.1:g.2715_2721dup, NG_012808.1:g.2713_2721dup, NG_012808.1:g.2712_2721dup, NG_012808.1:g.2711_2721dup, NG_012808.1:g.2710_2721dup, NG_012808.1:g.2709_2721dup, NG_012808.1:g.2707_2721dup, NG_012808.1:g.2706_2721dup, NG_012808.1:g.2705_2721dup, NG_009088.1:g.287_300del, NG_009088.1:g.289_300del, NG_009088.1:g.290_300del, NG_009088.1:g.291_300del, NG_009088.1:g.292_300del, NG_009088.1:g.293_300del, NG_009088.1:g.294_300del, NG_009088.1:g.295_300del, NG_009088.1:g.296_300del, NG_009088.1:g.297_300del, NG_009088.1:g.298_300del, NG_009088.1:g.299_300del, NG_009088.1:g.300del, NG_009088.1:g.300dup, NG_009088.1:g.299_300dup, NG_009088.1:g.298_300dup, NG_009088.1:g.297_300dup, NG_009088.1:g.296_300dup, NG_009088.1:g.294_300dup, NG_009088.1:g.292_300dup, NG_009088.1:g.291_300dup, NG_009088.1:g.290_300dup, NG_009088.1:g.289_300dup, NG_009088.1:g.288_300dup, NG_009088.1:g.286_300dup, NG_009088.1:g.285_300dup, NG_009088.1:g.284_300dup

Select item 14910637455.

rs1491063745 has merged into rs36081226 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:71105576 (GRCh38)
X:70325426 (GRCh37)
Canonical SPDI:: NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71105567:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CXorf65 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.71105576_71105586del, NC_000023.11:g.71105581_71105586del, NC_000023.11:g.71105582_71105586del, NC_000023.11:g.71105583_71105586del, NC_000023.11:g.71105584_71105586del, NC_000023.11:g.71105585_71105586del, NC_000023.11:g.71105586del, NC_000023.11:g.71105586dup, NC_000023.11:g.71105585_71105586dup, NC_000023.11:g.71105584_71105586dup, NC_000023.11:g.71105583_71105586dup, NC_000023.11:g.71105578_71105586dup, NC_000023.10:g.70325426_70325436del, NC_000023.10:g.70325431_70325436del, NC_000023.10:g.70325432_70325436del, NC_000023.10:g.70325433_70325436del, NC_000023.10:g.70325434_70325436del, NC_000023.10:g.70325435_70325436del, NC_000023.10:g.70325436del, NC_000023.10:g.70325436dup, NC_000023.10:g.70325435_70325436dup, NC_000023.10:g.70325434_70325436dup, NC_000023.10:g.70325433_70325436dup, NC_000023.10:g.70325428_70325436dup, NG_009088.1:g.10976_10986del, NG_009088.1:g.10981_10986del, NG_009088.1:g.10982_10986del, NG_009088.1:g.10983_10986del, NG_009088.1:g.10984_10986del, NG_009088.1:g.10985_10986del, NG_009088.1:g.10986del, NG_009088.1:g.10986dup, NG_009088.1:g.10985_10986dup, NG_009088.1:g.10984_10986dup, NG_009088.1:g.10983_10986dup, NG_009088.1:g.10978_10986dup, NG_021141.1:g.6211_6221del, NG_021141.1:g.6216_6221del, NG_021141.1:g.6217_6221del, NG_021141.1:g.6218_6221del, NG_021141.1:g.6219_6221del, NG_021141.1:g.6220_6221del, NG_021141.1:g.6221del, NG_021141.1:g.6221dup, NG_021141.1:g.6220_6221dup, NG_021141.1:g.6219_6221dup, NG_021141.1:g.6218_6221dup, NG_021141.1:g.6213_6221dup

Select item 14908918956.

rs1490891895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:71106673 (GRCh38)
X:70326523 (GRCh37)
Canonical SPDI:: NC_000023.11:71106672:A:T
Gene:: CXorf65 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.71106673A>T, NC_000023.10:g.70326523A>T, NG_009088.1:g.9881T>A, NG_021141.1:g.5116T>A, NM_001025265.3:c.-117T>A, NM_001025265.2:c.-117T>A, NR_033212.2:n.68T>A, NR_033212.1:n.116T>A, XM_005262244.5:c.-117T>A, XM_005262244.4:c.-117T>A, XM_005262244.3:c.-117T>A, XM_005262244.2:c.-117T>A, XM_005262244.1:c.-117T>A

Select item 14903172847.

rs1490317284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:71116385 (GRCh38)
X:70336235 (GRCh37)
Canonical SPDI:: NC_000023.11:71116384:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.71116385A>G, NC_000023.10:g.70336235A>G, NG_012808.1:g.2830A>G, NG_009088.1:g.169T>C

Select item 14897297518.

rs1489729751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:71105572 (GRCh38)
X:70325422 (GRCh37)
Canonical SPDI:: NC_000023.11:71105571:A:C
Gene:: CXorf65 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00006/4 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.71105572A>C, NC_000023.10:g.70325422A>C, NG_009088.1:g.10982T>G, NG_021141.1:g.6217T>G

Select item 14888303329.

rs1488830332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71114714 (GRCh38)
X:70334564 (GRCh37)
Canonical SPDI:: NC_000023.11:71114713:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.71114714C>T, NC_000023.10:g.70334564C>T, NG_012808.1:g.1159C>T, NG_009088.1:g.1840G>A

Select item 148873597210.

rs1488735972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:71108038 (GRCh38)
X:70327888 (GRCh37)
Canonical SPDI:: NC_000023.11:71108037:A:T
Gene:: IL2RG (Varview), CXorf65 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.71108038A>T, NC_000023.10:g.70327888A>T, NG_009088.1:g.8516T>A, NG_021141.1:g.3751T>A

Select item 148848997411.

rs1488489974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71109864 (GRCh38)
X:70329714 (GRCh37)
Canonical SPDI:: NC_000023.11:71109863:G:A
Gene:: IL2RG (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.71109864G>A, NC_000023.10:g.70329714G>A, NG_009088.1:g.6690C>T, NG_021141.1:g.1925C>T

Select item 148819550612.

rs1488195506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71111902 (GRCh38)
X:70331752 (GRCh37)
Canonical SPDI:: NC_000023.11:71111901:C:T
Gene:: IL2RG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.71111902C>T, NC_000023.10:g.70331752C>T, NG_009088.1:g.4652G>A

Select item 148808054913.

rs1488080549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71109719 (GRCh38)
X:70329569 (GRCh37)
Canonical SPDI:: NC_000023.11:71109718:G:A
Gene:: IL2RG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.71109719G>A, NC_000023.10:g.70329569G>A, NG_009088.1:g.6835C>T, NG_021141.1:g.2070C>T

Select item 148674851814.

rs1486748518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71110998 (GRCh38)
X:70330848 (GRCh37)
Canonical SPDI:: NC_000023.11:71110997:G:A
Gene:: IL2RG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.00018/2 (TOMMO)
HGVS:: NC_000023.11:g.71110998G>A, NC_000023.10:g.70330848G>A, NG_009088.1:g.5556C>T, NM_000206.3:c.168C>T, NM_000206.2:c.168C>T, NG_021141.1:g.791C>T, XM_047442089.1:c.168C>T

Select item 148661640215.

rs1486616402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:71108265 (GRCh38)
X:70328115 (GRCh37)
Canonical SPDI:: NC_000023.11:71108264:C:G,NC_000023.11:71108264:C:T
Gene:: IL2RG (Varview), CXorf65 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000106/11 (GnomAD)
T=0.000159/42 (TOPMED)
HGVS:: NC_000023.11:g.71108265C>G, NC_000023.11:g.71108265C>T, NC_000023.10:g.70328115C>G, NC_000023.10:g.70328115C>T, NG_009088.1:g.8289G>C, NG_009088.1:g.8289G>A, NG_021141.1:g.3524G>C, NG_021141.1:g.3524G>A

Select item 148578461116.

rs1485784611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:71110286 (GRCh38)
X:70330136 (GRCh37)
Canonical SPDI:: NC_000023.11:71110285:C:G
Gene:: IL2RG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.71110286C>G, NC_000023.10:g.70330136C>G, NG_009088.1:g.6268G>C, NM_000206.3:c.464G>C, NM_000206.2:c.464G>C, NG_021141.1:g.1503G>C, XM_047442089.1:c.464G>C, NP_000197.1:p.Trp155Ser, XP_047298045.1:p.Trp155Ser

Select item 148527903517.

rs1485279035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71114317 (GRCh38)
X:70334167 (GRCh37)
Canonical SPDI:: NC_000023.11:71114316:C:T
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.71114317C>T, NC_000023.10:g.70334167C>T, NG_012808.1:g.762C>T, NG_009088.1:g.2237G>A

Select item 148499146318.

rs1484991463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71112364 (GRCh38)
X:70332214 (GRCh37)
Canonical SPDI:: NC_000023.11:71112363:T:C
Gene:: IL2RG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.71112364T>C, NC_000023.10:g.70332214T>C, NG_009088.1:g.4190A>G

Select item 148493921019.

rs1484939210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71113813 (GRCh38)
X:70333663 (GRCh37)
Canonical SPDI:: NC_000023.11:71113812:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000225/3 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000023.11:g.71113813C>T, NC_000023.10:g.70333663C>T, NG_012808.1:g.258C>T, NG_009088.1:g.2741G>A

Select item 148466816120.

rs1484668161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71110719 (GRCh38)
X:70330569 (GRCh37)
Canonical SPDI:: NC_000023.11:71110718:C:T
Gene:: IL2RG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.71110719C>T, NC_000023.10:g.70330569C>T, NG_009088.1:g.5835G>A, NG_021141.1:g.1070G>A

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