SNP Links for Gene (Select 57393) - SNP

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Select item 14914360381.

rs1491436038 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCACA [Show Flanks]
Chromosome:: X:15670309 (GRCh38)
X:15688433 (GRCh37)
Canonical SPDI:: NC_000023.11:15670309:CACA:CACATCACA
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.15670310_15670313CA[2]TCACA[1], NC_000023.10:g.15688433_15688436CA[2]TCACA[1]

Select item 14912598562.

rs1491259856 has merged into rs56407617 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:15641656 (GRCh38)
X:15659779 (GRCh37)
Canonical SPDI:: NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:15641636:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.15641638GT[9], NC_000023.11:g.15641638GT[12], NC_000023.11:g.15641638GT[13], NC_000023.11:g.15641638GT[14], NC_000023.11:g.15641638GT[15], NC_000023.11:g.15641638GT[16], NC_000023.11:g.15641638GT[17], NC_000023.11:g.15641638GT[18], NC_000023.11:g.15641638GT[19], NC_000023.11:g.15641638GT[21], NC_000023.11:g.15641638GT[22], NC_000023.11:g.15641638GT[23], NC_000023.11:g.15641638GT[24], NC_000023.11:g.15641638GT[25], NC_000023.11:g.15641638GT[26], NC_000023.11:g.15641638GT[27], NC_000023.11:g.15641638GT[28], NC_000023.11:g.15641638GT[29], NC_000023.11:g.15641638GT[30], NC_000023.10:g.15659761GT[9], NC_000023.10:g.15659761GT[12], NC_000023.10:g.15659761GT[13], NC_000023.10:g.15659761GT[14], NC_000023.10:g.15659761GT[15], NC_000023.10:g.15659761GT[16], NC_000023.10:g.15659761GT[17], NC_000023.10:g.15659761GT[18], NC_000023.10:g.15659761GT[19], NC_000023.10:g.15659761GT[21], NC_000023.10:g.15659761GT[22], NC_000023.10:g.15659761GT[23], NC_000023.10:g.15659761GT[24], NC_000023.10:g.15659761GT[25], NC_000023.10:g.15659761GT[26], NC_000023.10:g.15659761GT[27], NC_000023.10:g.15659761GT[28], NC_000023.10:g.15659761GT[29], NC_000023.10:g.15659761GT[30], NG_015970.1:g.28356CA[9], NG_015970.1:g.28356CA[12], NG_015970.1:g.28356CA[13], NG_015970.1:g.28356CA[14], NG_015970.1:g.28356CA[15], NG_015970.1:g.28356CA[16], NG_015970.1:g.28356CA[17], NG_015970.1:g.28356CA[18], NG_015970.1:g.28356CA[19], NG_015970.1:g.28356CA[21], NG_015970.1:g.28356CA[22], NG_015970.1:g.28356CA[23], NG_015970.1:g.28356CA[24], NG_015970.1:g.28356CA[25], NG_015970.1:g.28356CA[26], NG_015970.1:g.28356CA[27], NG_015970.1:g.28356CA[28], NG_015970.1:g.28356CA[29], NG_015970.1:g.28356CA[30]

Select item 14912332103.

rs1491233210 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:15632883 (GRCh38)
X:15651006 (GRCh37)
Canonical SPDI:: NC_000023.11:15632882:CA:
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00666/79 (ALFA)
-=0.0049/61 (TOMMO)
HGVS:: NC_000023.11:g.15632883_15632884del, NC_000023.10:g.15651006_15651007del, NG_015970.1:g.37148_37149del

Select item 14912109814.

rs1491210981 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:15670352 (GRCh38)
X:15688475 (GRCh37)
Canonical SPDI:: NC_000023.11:15670350:AAA:A
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
-=0.00033/33 (GnomAD)
-=0.00063/8 (TOMMO)
-=0.00083/4 (1000Genomes)
HGVS:: NC_000023.11:g.15670352_15670353del, NC_000023.10:g.15688475_15688476del

Select item 14911871405.

rs1491187140 has merged into rs199900262 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: X:15671863 (GRCh38)
X:15689986 (GRCh37)
Canonical SPDI:: NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:15671844:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: CLTRN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
C=0.0003/1 (1000Genomes)
-=0.2821/815 (ALSPAC)
HGVS:: NC_000023.11:g.15671845CA[9], NC_000023.11:g.15671845CA[11], NC_000023.11:g.15671845CA[12], NC_000023.11:g.15671845CA[13], NC_000023.11:g.15671845CA[14], NC_000023.11:g.15671845CA[15], NC_000023.11:g.15671845CA[16], NC_000023.11:g.15671845CA[17], NC_000023.11:g.15671845CA[18], NC_000023.11:g.15671845CA[19], NC_000023.11:g.15671845CA[21], NC_000023.11:g.15671845CA[22], NC_000023.11:g.15671845CA[23], NC_000023.11:g.15671845CA[24], NC_000023.11:g.15671845CA[25], NC_000023.11:g.15671845CA[26], NC_000023.11:g.15671845CA[27], NC_000023.11:g.15671845CA[32], NC_000023.10:g.15689968CA[9], NC_000023.10:g.15689968CA[11], NC_000023.10:g.15689968CA[12], NC_000023.10:g.15689968CA[13], NC_000023.10:g.15689968CA[14], NC_000023.10:g.15689968CA[15], NC_000023.10:g.15689968CA[16], NC_000023.10:g.15689968CA[17], NC_000023.10:g.15689968CA[18], NC_000023.10:g.15689968CA[19], NC_000023.10:g.15689968CA[21], NC_000023.10:g.15689968CA[22], NC_000023.10:g.15689968CA[23], NC_000023.10:g.15689968CA[24], NC_000023.10:g.15689968CA[25], NC_000023.10:g.15689968CA[26], NC_000023.10:g.15689968CA[27], NC_000023.10:g.15689968CA[32]

Select item 14911045826.

rs1491104582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTG [Show Flanks]
Chromosome:: X:15641637 (GRCh38)
X:15659761 (GRCh37)
Canonical SPDI:: NC_000023.11:15641637:GTGTGTG:GTGTGTGCGTGTGTG
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGCGTGTGTG=0.00007/1 (ALFA)
GTGTGTGC=0.00021/3 (GnomAD)
HGVS:: NC_000023.11:g.15641638_15641644GT[3]GCGTGTGTG[1], NC_000023.10:g.15659761_15659767GT[3]GCGTGTGTG[1], NG_015970.1:g.28388_28394CA[3]CGCACACAC[1]

Select item 14909900457.

rs1490990045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:15633308 (GRCh38)
X:15651431 (GRCh37)
Canonical SPDI:: NC_000023.11:15633307:A:G
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.15633308A>G, NC_000023.10:g.15651431A>G, NG_015970.1:g.36724T>C

Select item 14908885268.

rs1490888526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:15652072 (GRCh38)
X:15670195 (GRCh37)
Canonical SPDI:: NC_000023.11:15652071:G:A
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.15652072G>A, NC_000023.10:g.15670195G>A, NG_015970.1:g.17960C>T

Select item 14908777599.

rs1490877759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:15675178 (GRCh38)
X:15693301 (GRCh37)
Canonical SPDI:: NC_000023.11:15675177:T:G
Gene:: CLTRN (Varview), CA5BP1 (Varview), CA5BP1-CA5B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.15675178T>G, NC_000023.10:g.15693301T>G, XM_024452411.2:c.-288A>C

Select item 149079735010.

rs1490797350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:15648504 (GRCh38)
X:15666627 (GRCh37)
Canonical SPDI:: NC_000023.11:15648503:A:T
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (SGDP_PRJ)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.15648504A>T, NC_000023.10:g.15666627A>T, NG_015970.1:g.21528T>A

Select item 149052756511.

rs1490527565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:15670632 (GRCh38)
X:15688755 (GRCh37)
Canonical SPDI:: NC_000023.11:15670631:T:G
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15670632T>G, NC_000023.10:g.15688755T>G

Select item 149035485512.

rs1490354855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:15675717 (GRCh38)
X:15693840 (GRCh37)
Canonical SPDI:: NC_000023.11:15675716:G:A
Gene:: CLTRN (Varview), CA5BP1 (Varview), CA5BP1-CA5B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.15675717G>A, NC_000023.10:g.15693840G>A, NR_026551.2:n.69G>A, NR_026551.1:n.69G>A, NR_160544.1:n.260G>A, NR_160545.1:n.260G>A, NR_160543.1:n.260G>A

Select item 149033509313.

rs1490335093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:15676479 (GRCh38)
X:15694602 (GRCh37)
Canonical SPDI:: NC_000023.11:15676478:T:A
Gene:: CLTRN (Varview), CA5BP1 (Varview), CA5BP1-CA5B (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=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.15676479T>A, NC_000023.10:g.15694602T>A

Select item 149030458014.

rs1490304580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:15647221 (GRCh38)
X:15665344 (GRCh37)
Canonical SPDI:: NC_000023.11:15647220:C:T
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.15647221C>T, NC_000023.10:g.15665344C>T, NG_015970.1:g.22811G>A

Select item 149014109015.

rs1490141090 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:15635478 (GRCh38)
X:15653602 (GRCh37)
Canonical SPDI:: NC_000023.11:15635478:G:GG
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.15635479dup, NC_000023.10:g.15653602dup, NG_015970.1:g.34553dup

Select item 149008533216.

rs1490085332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15637077 (GRCh38)
X:15655200 (GRCh37)
Canonical SPDI:: NC_000023.11:15637076:T:C
Gene:: CLTRN (Varview)
Functional Consequence:: intron_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.15637077T>C, NC_000023.10:g.15655200T>C, NG_015970.1:g.32955A>G

Select item 149005938517.

rs1490059385 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:15675590 (GRCh38)
X:15693713 (GRCh37)
Canonical SPDI:: NC_000023.11:15675589:GGGG:GGG
Gene:: CLTRN (Varview), CA5BP1 (Varview), CA5BP1-CA5B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.15675593del, NC_000023.10:g.15693716del, XM_017029680.2:c.-246del, XM_017029680.1:c.-246del, NR_160544.1:n.136del, NR_160545.1:n.136del, NR_160543.1:n.136del

Select item 149004216918.

rs1490042169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15657914 (GRCh38)
X:15676037 (GRCh37)
Canonical SPDI:: NC_000023.11:15657913:T:C
Gene:: CLTRN (Varview)
Functional Consequence:: intron_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.15657914T>C, NC_000023.10:g.15676037T>C, NG_015970.1:g.12118A>G

Select item 148999972419.

rs1489999724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15647580 (GRCh38)
X:15665703 (GRCh37)
Canonical SPDI:: NC_000023.11:15647579:T:C
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15647580T>C, NC_000023.10:g.15665703T>C, NG_015970.1:g.22452A>G

Select item 148995145720.

rs1489951457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15667229 (GRCh38)
X:15685352 (GRCh37)
Canonical SPDI:: NC_000023.11:15667228:T:C
Gene:: CLTRN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00007/6 (GnomAD)
C=0.00011/29 (TOPMED)
HGVS:: NC_000023.11:g.15667229T>C, NC_000023.10:g.15685352T>C, NG_015970.1:g.2803A>G

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