SNP Links for Nucleotide (Select 257196128) - SNP

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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 14904306515.

rs1490430651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71127314 (GRCh38)
X:70347164 (GRCh37)
Canonical SPDI:: NC_000023.11:71127313:C:T
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.71127314C>T, NC_000023.10:g.70347164C>T, NG_012808.1:g.13759C>T

Select item 14904261336.

rs1490426133 has merged into rs200170344 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: X:71138578 (GRCh38)
X:70358428 (GRCh37)
Canonical SPDI:: NC_000023.11:71138570:AAAAAAAAA:AAAAAAA,NC_000023.11:71138570:AAAAAAAAA:AAAAAAAA,NC_000023.11:71138570:AAAAAAAAA:AAAAAAAAAA
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.71138578_71138579del, NC_000023.11:g.71138579del, NC_000023.11:g.71138579dup, NC_000023.10:g.70358428_70358429del, NC_000023.10:g.70358429del, NC_000023.10:g.70358429dup, NG_012808.1:g.25023_25024del, NG_012808.1:g.25024del, NG_012808.1:g.25024dup

Select item 14903990107.

rs1490399010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:71141265 (GRCh38)
X:70361115 (GRCh37)
Canonical SPDI:: NC_000023.11:71141264:G:A,NC_000023.11:71141264:G:C
Gene:: MED12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.71141265G>A, NC_000023.11:g.71141265G>C, NC_000023.10:g.70361115G>A, NC_000023.10:g.70361115G>C, NG_015874.1:g.1435G>A, NG_015874.1:g.1435G>C, NG_012808.1:g.27710G>A, NG_012808.1:g.27710G>C, NM_005120.3:c.6303G>A, NM_005120.3:c.6303G>C, NM_005120.2:c.6303G>A, NM_005120.2:c.6303G>C, XM_047442699.1:c.*297G>A, XM_047442699.1:c.*297G>C, XM_047442700.1:c.*297G>A, XM_047442700.1:c.*297G>C, XM_047442701.1:c.*297G>A, XM_047442701.1:c.*297G>C, XM_047442702.1:c.*297G>A, XM_047442702.1:c.*297G>C, XM_047442703.1:c.*297G>A, XM_047442703.1:c.*297G>C, XM_047442704.1:c.*297G>A, XM_047442704.1:c.*297G>C, NP_005111.2:p.Gln2101His

Select item 14903172848.

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 14902861409.

rs1490286140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71117372 (GRCh38)
X:70337222 (GRCh37)
Canonical SPDI:: NC_000023.11:71117371:T:C
Gene:: MED12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.71117372T>C, NC_000023.10:g.70337222T>C, NG_012808.1:g.3817T>C

Select item 149008913710.

rs1490089137 has merged into rs748394417 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGCA>-,GCA,GCAGCAGCA,GCAGCAGCAGCA [Show Flanks]
Chromosome:: X:71141235 (GRCh38)
X:70361085 (GRCh37)
Canonical SPDI:: NC_000023.11:71141227:AGCAGCAGCAGCA:AGCAGCA,NC_000023.11:71141227:AGCAGCAGCAGCA:AGCAGCAGCA,NC_000023.11:71141227:AGCAGCAGCAGCA:AGCAGCAGCAGCAGCA,NC_000023.11:71141227:AGCAGCAGCAGCA:AGCAGCAGCAGCAGCAGCA
Gene:: MED12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,splice_acceptor_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAGCAGCAGCAGCA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.71141229GCA[2], NC_000023.11:g.71141229GCA[3], NC_000023.11:g.71141229GCA[5], NC_000023.11:g.71141229GCA[6], NC_000023.10:g.70361079GCA[2], NC_000023.10:g.70361079GCA[3], NC_000023.10:g.70361079GCA[5], NC_000023.10:g.70361079GCA[6], NG_015874.1:g.1399GCA[2], NG_015874.1:g.1399GCA[3], NG_015874.1:g.1399GCA[5], NG_015874.1:g.1399GCA[6], NG_012808.1:g.27674GCA[2], NG_012808.1:g.27674GCA[3], NG_012808.1:g.27674GCA[5], NG_012808.1:g.27674GCA[6], XM_047442699.1:c.*261GCA[2], XM_047442699.1:c.*261GCA[3], XM_047442699.1:c.*261GCA[5], XM_047442699.1:c.*261GCA[6], XM_047442700.1:c.*261GCA[2], XM_047442700.1:c.*261GCA[3], XM_047442700.1:c.*261GCA[5], XM_047442700.1:c.*261GCA[6], XM_047442701.1:c.*261GCA[2], XM_047442701.1:c.*261GCA[3], XM_047442701.1:c.*261GCA[5], XM_047442701.1:c.*261GCA[6], XM_047442702.1:c.*261GCA[2], XM_047442702.1:c.*261GCA[3], XM_047442702.1:c.*261GCA[5], XM_047442702.1:c.*261GCA[6], XM_047442703.1:c.*261GCA[2], XM_047442703.1:c.*261GCA[3], XM_047442703.1:c.*261GCA[5], XM_047442703.1:c.*261GCA[6], XM_047442704.1:c.*261GCA[2], XM_047442704.1:c.*261GCA[3], XM_047442704.1:c.*261GCA[5], XM_047442704.1:c.*261GCA[6]

Select item 149006974711.

rs1490069747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:71142617 (GRCh38)
X:70362467 (GRCh37)
Canonical SPDI:: NC_000023.11:71142616:C:T
Gene:: MED12 (Varview), LOC124905197 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.71142617C>T, NC_000023.10:g.70362467C>T, NG_015874.1:g.2787C>T, NG_012808.1:g.29062C>T, XR_007068262.1:n.2117G>A

Select item 148990696512.

rs1489906965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:71141811 (GRCh38)
X:70361661 (GRCh37)
Canonical SPDI:: NC_000023.11:71141810:A:G
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.71141811A>G, NC_000023.10:g.70361661A>G, NG_015874.1:g.1981A>G, NG_012808.1:g.28256A>G

Select item 148968921813.

rs1489689218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:71142498 (GRCh38)
X:70362348 (GRCh37)
Canonical SPDI:: NC_000023.11:71142497:A:C
Gene:: MED12 (Varview), LOC124905197 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.71142498A>C, NC_000023.10:g.70362348A>C, NG_015874.1:g.2668A>C, NG_012808.1:g.28943A>C

Select item 148967119614.

rs1489671196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:71121053 (GRCh38)
X:70340903 (GRCh37)
Canonical SPDI:: NC_000023.11:71121052:T:A,NC_000023.11:71121052:T:C,NC_000023.11:71121052:T:G
Gene:: MED12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.71121053T>A, NC_000023.11:g.71121053T>C, NC_000023.11:g.71121053T>G, NC_000023.10:g.70340903T>A, NC_000023.10:g.70340903T>C, NC_000023.10:g.70340903T>G, NG_012808.1:g.7498T>A, NG_012808.1:g.7498T>C, NG_012808.1:g.7498T>G, NM_005120.3:c.636T>A, NM_005120.3:c.636T>C, NM_005120.3:c.636T>G, NM_005120.2:c.636T>A, NM_005120.2:c.636T>C, NM_005120.2:c.636T>G, XM_047442699.1:c.636T>A, XM_047442699.1:c.636T>C, XM_047442699.1:c.636T>G, XM_047442700.1:c.636T>A, XM_047442700.1:c.636T>C, XM_047442700.1:c.636T>G, XM_047442701.1:c.636T>A, XM_047442701.1:c.636T>C, XM_047442701.1:c.636T>G, XM_047442702.1:c.636T>A, XM_047442702.1:c.636T>C, XM_047442702.1:c.636T>G, XM_047442703.1:c.636T>A, XM_047442703.1:c.636T>C, XM_047442703.1:c.636T>G, XM_047442704.1:c.636T>A, XM_047442704.1:c.636T>C, XM_047442704.1:c.636T>G, NP_005111.2:p.Ser212Arg, NP_005111.2:p.Ser212Arg, XP_047298655.1:p.Ser212Arg, XP_047298655.1:p.Ser212Arg, XP_047298656.1:p.Ser212Arg, XP_047298656.1:p.Ser212Arg, XP_047298657.1:p.Ser212Arg, XP_047298657.1:p.Ser212Arg, XP_047298658.1:p.Ser212Arg, XP_047298658.1:p.Ser212Arg, XP_047298659.1:p.Ser212Arg, XP_047298659.1:p.Ser212Arg, XP_047298660.1:p.Ser212Arg, XP_047298660.1:p.Ser212Arg

Select item 148966506515.

rs1489665065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:71128959 (GRCh38)
X:70348809 (GRCh37)
Canonical SPDI:: NC_000023.11:71128958:G:A
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.71128959G>A, NC_000023.10:g.70348809G>A, NG_012808.1:g.15404G>A

Select item 148947198716.

rs1489471987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:71137269 (GRCh38)
X:70357119 (GRCh37)
Canonical SPDI:: NC_000023.11:71137268:G:A,NC_000023.11:71137268:G:C
Gene:: MED12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.71137269G>A, NC_000023.11:g.71137269G>C, NC_000023.10:g.70357119G>A, NC_000023.10:g.70357119G>C, NG_012808.1:g.23714G>A, NG_012808.1:g.23714G>C, NM_005120.3:c.5634G>A, NM_005120.3:c.5634G>C, NM_005120.2:c.5634G>A, NM_005120.2:c.5634G>C, XM_047442699.1:c.5634G>A, XM_047442699.1:c.5634G>C, XM_047442700.1:c.5634G>A, XM_047442700.1:c.5634G>C, XM_047442701.1:c.5634G>A, XM_047442701.1:c.5634G>C, XM_047442702.1:c.5634G>A, XM_047442702.1:c.5634G>C, XM_047442703.1:c.5634G>A, XM_047442703.1:c.5634G>C, XM_047442704.1:c.5634G>A, XM_047442704.1:c.5634G>C

Select item 148937316217.

rs1489373162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:71143170 (GRCh38)
X:70363020 (GRCh37)
Canonical SPDI:: NC_000023.11:71143169:G:C
Gene:: NLGN3 (Varview), LOC124905197 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.71143170G>C, NC_000023.10:g.70363020G>C, NG_015874.1:g.3340G>C, NG_012808.1:g.29615G>C, XR_007068262.1:n.1564C>G

Select item 148935666218.

rs1489356662 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:71140076 (GRCh38)
X:70359926 (GRCh37)
Canonical SPDI:: NC_000023.11:71140075:C:
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.71140076del, NC_000023.10:g.70359926del, NG_015874.1:g.246del, NG_012808.1:g.26521del

Select item 148921008419.

rs1489210084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:71124577 (GRCh38)
X:70344427 (GRCh37)
Canonical SPDI:: NC_000023.11:71124576:T:C
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.71124577T>C, NC_000023.10:g.70344427T>C, NG_012808.1:g.11022T>C

Select item 148915076420.

rs1489150764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:71133562 (GRCh38)
X:70353412 (GRCh37)
Canonical SPDI:: NC_000023.11:71133561:T:G
Gene:: MED12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.71133562T>G, NC_000023.10:g.70353412T>G, NG_012808.1:g.20007T>G

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