SNP Links for Gene (Select 100506164) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 293

<< First< Prev

Page of 15

Next >Last >>

Select item 14909369191.

rs1490936919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:149772385 (GRCh38)
X:148854043 (GRCh37)
Canonical SPDI:: NC_000023.11:149772384:T:C
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00396/47 (ALFA)
HGVS:: NC_000023.11:g.149772385T>C, NW_004070890.2:g.5296783T>C, NG_029343.2:g.3603T>C, NC_000023.10:g.148854043T>C

Select item 14904449902.

rs1490444990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:149774755 (GRCh38)
X:148856413 (GRCh37)
Canonical SPDI:: NC_000023.11:149774754:A:G
Gene:: HSFX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.149774755A>G, NW_004070890.2:g.5299153A>G, NC_000023.10:g.148856413A>G, NM_016153.3:c.74A>G, NM_016153.2:c.74A>G, NP_057237.1:p.Glu25Gly

Select item 14901359563.

rs1490135956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:149772080 (GRCh38)
X:148853741 (GRCh37)
Canonical SPDI:: NC_000023.11:149772079:A:T
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00388/46 (ALFA)
HGVS:: NC_000023.11:g.149772080A>T, NW_004070890.2:g.5296478A>T, NG_029343.2:g.3298A>T, NC_000023.10:g.148853741A>T

Select item 14897925684.

rs1489792568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149777198 (GRCh38)
X:148858856 (GRCh37)
Canonical SPDI:: NC_000023.11:149777197:G:A
Gene:: HSFX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00067/3 (GnomAD)
HGVS:: NC_000023.11:g.149777198G>A, NW_004070890.2:g.5301596G>A, NC_000023.10:g.148858856G>A

Select item 14864839715.

rs1486483971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149772812 (GRCh38)
X:148854470 (GRCh37)
Canonical SPDI:: NC_000023.11:149772811:C:T
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.149772812C>T, NW_004070890.2:g.5297210C>T, NG_029343.2:g.4030C>T, NC_000023.10:g.148854470C>T

Select item 14864504726.

rs1486450472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:149777289 (GRCh38)
X:148858947 (GRCh37)
Canonical SPDI:: NC_000023.11:149777288:C:G,NC_000023.11:149777288:C:T
Gene:: HSFX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000023.11:g.149777289C>G, NC_000023.11:g.149777289C>T, NW_004070890.2:g.5301687C>G, NW_004070890.2:g.5301687C>T, NC_000023.10:g.148858947C>G, NC_000023.10:g.148858947C>T

Select item 14822665967.

rs1482266596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149777108 (GRCh38)
X:148858766 (GRCh37)
Canonical SPDI:: NC_000023.11:149777107:G:A
Gene:: HSFX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00036/1 (GnomAD)
HGVS:: NC_000023.11:g.149777108G>A, NW_004070890.2:g.5301506G>A, NC_000023.10:g.148858766G>A

Select item 14808658588.

rs1480865858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149774862 (GRCh38)
X:148856520 (GRCh37)
Canonical SPDI:: NC_000023.11:149774861:C:T
Gene:: HSFX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.149774862C>T, NW_004070890.2:g.5299260C>T, NC_000023.10:g.148856520C>T, NM_016153.3:c.181C>T, NM_016153.2:c.181C>T

Select item 14806639569.

rs1480663956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:149772193 (GRCh38)
X:148853851 (GRCh37)
Canonical SPDI:: NC_000023.11:149772192:A:C
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.149772193A>C, NW_004070890.2:g.5296591A>C, NG_029343.2:g.3411A>C, NC_000023.10:g.148853851A>C

Select item 148024508610.

rs1480245086 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: X:149772146 (GRCh38)
X:148853807 (GRCh37)
Canonical SPDI:: NC_000023.11:149772144:CTC:C
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00253/30 (ALFA)
-=0.00057/6 (TOMMO)
HGVS:: NC_000023.11:g.149772146_149772147del, NW_004070890.2:g.5296544_5296545del, NG_029343.2:g.3364_3365del, NC_000023.10:g.148853807_148853808del

Select item 148011367511.

rs1480113675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149772372 (GRCh38)
X:148854030 (GRCh37)
Canonical SPDI:: NC_000023.11:149772371:C:T
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.149772372C>T, NW_004070890.2:g.5296770C>T, NG_029343.2:g.3590C>T, NC_000023.10:g.148854030C>T

Select item 147923008212.

rs1479230082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149772665 (GRCh38)
X:148854323 (GRCh37)
Canonical SPDI:: NC_000023.11:149772664:G:A
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.149772665G>A, NW_004070890.2:g.5297063G>A, NG_029343.2:g.3883G>A, NC_000023.10:g.148854323G>A

Select item 147756820113.

rs1477568201 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: X:149774964 (GRCh38)
X:148856622 (GRCh37)
Canonical SPDI:: NC_000023.11:149774960:CTCCTC:CTC
Gene:: HSFX1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.00014/5 (GnomAD)
HGVS:: NC_000023.11:g.149774961CTC[1], NW_004070890.2:g.5299359CTC[1], NC_000023.10:g.148856619CTC[1], NM_016153.3:c.280CTC[1], NM_016153.2:c.280CTC[1], NP_057237.1:p.Leu95del

Select item 147429666014.

rs1474296660 has merged into rs782627895 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCC>-,C,CC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: X:149772156 (GRCh38)
X:148853817 (GRCh37)
Canonical SPDI:: NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000023.11:149772146:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC
Gene:: HSFX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.063/182 (ALSPAC)
-=0.07524/279 (TWINSUK)
HGVS:: NC_000023.11:g.149772156_149772161del, NC_000023.11:g.149772157_149772161del, NC_000023.11:g.149772158_149772161del, NC_000023.11:g.149772160_149772161del, NC_000023.11:g.149772161del, NC_000023.11:g.149772161dup, NC_000023.11:g.149772160_149772161dup, NC_000023.11:g.149772159_149772161dup, NW_004070890.2:g.5296554_5296559del, NW_004070890.2:g.5296555_5296559del, NW_004070890.2:g.5296556_5296559del, NW_004070890.2:g.5296558_5296559del, NW_004070890.2:g.5296559del, NW_004070890.2:g.5296559dup, NW_004070890.2:g.5296558_5296559dup, NW_004070890.2:g.5296557_5296559dup, NG_029343.2:g.3374_3379del, NG_029343.2:g.3375_3379del, NG_029343.2:g.3376_3379del, NG_029343.2:g.3378_3379del, NG_029343.2:g.3379del, NG_029343.2:g.3379dup, NG_029343.2:g.3378_3379dup, NG_029343.2:g.3377_3379dup, NC_000023.10:g.148853817_148853819dup, NC_000023.10:g.148853817_148853819del, NC_000023.10:g.148853818_148853819del, NC_000023.10:g.148853819del, NC_000023.10:g.148853819dup, NC_000023.10:g.148853818_148853819dup, NC_000023.10:g.148853816_148853819dup, NC_000023.10:g.148853815_148853819dup, NC_000023.10:g.148853814_148853819dup

Select item 147207298615.

rs1472072986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:149774713 (GRCh38)
X:148856371 (GRCh37)
Canonical SPDI:: NC_000023.11:149774712:G:A,NC_000023.11:149774712:G:T
Gene:: HSFX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00499/24 (1000Genomes)
HGVS:: NC_000023.11:g.149774713G>A, NC_000023.11:g.149774713G>T, NW_004070890.2:g.5299111G>A, NW_004070890.2:g.5299111G>T, NC_000023.10:g.148856371G>A, NC_000023.10:g.148856371G>T, NM_016153.3:c.32G>A, NM_016153.3:c.32G>T, NM_016153.2:c.32G>A, NM_016153.2:c.32G>T, NP_057237.1:p.Arg11His, NP_057237.1:p.Arg11Leu

Select item 147203885616.

rs1472038856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149777176 (GRCh38)
X:148858834 (GRCh37)
Canonical SPDI:: NC_000023.11:149777175:C:T
Gene:: HSFX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.149777176C>T, NW_004070890.2:g.5301574C>T, NC_000023.10:g.148858834C>T

Select item 147119069317.

rs1471190693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: X:149774843 (GRCh38)
X:148856502 (GRCh37)
Canonical SPDI:: NC_000023.11:149774843:GGG:GGGGG
Gene:: HSFX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0.000071/1 (ALFA)
GG=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.149774845_149774846dup, NW_004070890.2:g.5299243_5299244dup, NC_000023.10:g.148856503_148856504dup, NM_016153.3:c.164_165dup, NM_016153.2:c.164_165dup, NP_057237.1:p.Ser56fs

Select item 147043535918.

rs1470435359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:149774937 (GRCh38)
X:148856595 (GRCh37)
Canonical SPDI:: NC_000023.11:149774936:G:A,NC_000023.11:149774936:G:T
Gene:: HSFX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00006/2 (GnomAD)
HGVS:: NC_000023.11:g.149774937G>A, NC_000023.11:g.149774937G>T, NW_004070890.2:g.5299335G>A, NW_004070890.2:g.5299335G>T, NC_000023.10:g.148856595G>A, NC_000023.10:g.148856595G>T, NM_016153.3:c.256G>A, NM_016153.3:c.256G>T, NM_016153.2:c.256G>A, NM_016153.2:c.256G>T, NP_057237.1:p.Val86Ile, NP_057237.1:p.Val86Phe

Select item 147037110619.

rs1470371106 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:149772144 (GRCh38)
X:148853805 (GRCh37)
Canonical SPDI:: NC_000023.11:149772143:A:
Gene:: HSFX1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00026/3 (TOMMO)
HGVS:: NC_000023.11:g.149772144del, NW_004070890.2:g.5296542del, NG_029343.2:g.3362del, NC_000023.10:g.148853805del