SNP Links for Nucleotide (Select 283837757) - SNP

Links from Nucleotide

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Select item 14915713981.

rs1491571398 has merged into rs56277094 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: X:16782398 (GRCh38)
X:16800521 (GRCh37)
Canonical SPDI:: NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:16782389:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.16782390AT[4], NC_000023.11:g.16782390AT[5], NC_000023.11:g.16782390AT[6], NC_000023.11:g.16782390AT[7], NC_000023.11:g.16782390AT[8], NC_000023.11:g.16782390AT[9], NC_000023.11:g.16782390AT[10], NC_000023.11:g.16782390AT[11], NC_000023.11:g.16782390AT[12], NC_000023.11:g.16782390AT[13], NC_000023.11:g.16782390AT[14], NC_000023.11:g.16782390AT[15], NC_000023.11:g.16782390AT[16], NC_000023.11:g.16782390AT[17], NC_000023.11:g.16782390AT[18], NC_000023.11:g.16782390AT[19], NC_000023.11:g.16782390AT[20], NC_000023.11:g.16782390AT[22], NC_000023.11:g.16782390AT[23], NC_000023.11:g.16782390AT[24], NC_000023.11:g.16782390AT[25], NC_000023.11:g.16782390AT[26], NC_000023.11:g.16782390AT[27], NC_000023.11:g.16782390AT[28], NC_000023.11:g.16782390AT[29], NC_000023.11:g.16782390AT[30], NC_000023.11:g.16782390AT[31], NC_000023.11:g.16782390AT[32], NC_000023.11:g.16782390AT[33], NC_000023.11:g.16782390AT[34], NC_000023.11:g.16782390AT[35], NC_000023.11:g.16782390AT[36], NC_000023.11:g.16782390AT[37], NC_000023.10:g.16800513AT[4], NC_000023.10:g.16800513AT[5], NC_000023.10:g.16800513AT[6], NC_000023.10:g.16800513AT[7], NC_000023.10:g.16800513AT[8], NC_000023.10:g.16800513AT[9], NC_000023.10:g.16800513AT[10], NC_000023.10:g.16800513AT[11], NC_000023.10:g.16800513AT[12], NC_000023.10:g.16800513AT[13], NC_000023.10:g.16800513AT[14], NC_000023.10:g.16800513AT[15], NC_000023.10:g.16800513AT[16], NC_000023.10:g.16800513AT[17], NC_000023.10:g.16800513AT[18], NC_000023.10:g.16800513AT[19], NC_000023.10:g.16800513AT[20], NC_000023.10:g.16800513AT[22], NC_000023.10:g.16800513AT[23], NC_000023.10:g.16800513AT[24], NC_000023.10:g.16800513AT[25], NC_000023.10:g.16800513AT[26], NC_000023.10:g.16800513AT[27], NC_000023.10:g.16800513AT[28], NC_000023.10:g.16800513AT[29], NC_000023.10:g.16800513AT[30], NC_000023.10:g.16800513AT[31], NC_000023.10:g.16800513AT[32], NC_000023.10:g.16800513AT[33], NC_000023.10:g.16800513AT[34], NC_000023.10:g.16800513AT[35], NC_000023.10:g.16800513AT[36], NC_000023.10:g.16800513AT[37], NG_016267.1:g.959AT[4], NG_016267.1:g.959AT[5], NG_016267.1:g.959AT[6], NG_016267.1:g.959AT[7], NG_016267.1:g.959AT[8], NG_016267.1:g.959AT[9], NG_016267.1:g.959AT[10], NG_016267.1:g.959AT[11], NG_016267.1:g.959AT[12], NG_016267.1:g.959AT[13], NG_016267.1:g.959AT[14], NG_016267.1:g.959AT[15], NG_016267.1:g.959AT[16], NG_016267.1:g.959AT[17], NG_016267.1:g.959AT[18], NG_016267.1:g.959AT[19], NG_016267.1:g.959AT[20], NG_016267.1:g.959AT[22], NG_016267.1:g.959AT[23], NG_016267.1:g.959AT[24], NG_016267.1:g.959AT[25], NG_016267.1:g.959AT[26], NG_016267.1:g.959AT[27], NG_016267.1:g.959AT[28], NG_016267.1:g.959AT[29], NG_016267.1:g.959AT[30], NG_016267.1:g.959AT[31], NG_016267.1:g.959AT[32], NG_016267.1:g.959AT[33], NG_016267.1:g.959AT[34], NG_016267.1:g.959AT[35], NG_016267.1:g.959AT[36], NG_016267.1:g.959AT[37]

Select item 14915562172.

rs1491556217 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: X:16801951 (GRCh38)
X:16820075 (GRCh37)
Canonical SPDI:: NC_000023.11:16801951:TT:TTCTT
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.16801953_16801954insCTT, NC_000023.10:g.16820076_16820077insCTT, NG_016267.1:g.20522_20523insCTT

Select item 14915176573.

rs1491517657 has merged into rs542151719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:16821139 (GRCh38)
X:16839263 (GRCh37)
Canonical SPDI:: NC_000023.11:16821139:C:CC
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0031/9 (ALSPAC)
C=0.0116/43 (TWINSUK)
HGVS:: NC_000023.11:g.16821140dup, NC_000023.10:g.16839263dup, NG_016267.1:g.39709dup

Select item 14915053044.

rs1491505304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,GT [Show Flanks]
Chromosome:: X:16809346 (GRCh38)
X:16827470 (GRCh37)
Canonical SPDI:: NC_000023.11:16809346:T:TAT,NC_000023.11:16809346:T:TGT
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.00046/7 (ALFA)
TG=0.00317/79 (GnomAD)
HGVS:: NC_000023.11:g.16809347_16809348insAT, NC_000023.11:g.16809347_16809348insGT, NC_000023.10:g.16827470_16827471insAT, NC_000023.10:g.16827470_16827471insGT, NG_016267.1:g.27916_27917insAT, NG_016267.1:g.27916_27917insGT

Select item 14914587625.

rs1491458762 has merged into rs56062713 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:16809354 (GRCh38)
X:16827477 (GRCh37)
Canonical SPDI:: NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:16809345:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.16809354_16809361del, NC_000023.11:g.16809360_16809361del, NC_000023.11:g.16809361del, NC_000023.11:g.16809361dup, NC_000023.11:g.16809360_16809361dup, NC_000023.11:g.16809359_16809361dup, NC_000023.11:g.16809358_16809361dup, NC_000023.11:g.16809357_16809361dup, NC_000023.11:g.16809353_16809361dup, NC_000023.10:g.16827477_16827484del, NC_000023.10:g.16827483_16827484del, NC_000023.10:g.16827484del, NC_000023.10:g.16827484dup, NC_000023.10:g.16827483_16827484dup, NC_000023.10:g.16827482_16827484dup, NC_000023.10:g.16827481_16827484dup, NC_000023.10:g.16827480_16827484dup, NC_000023.10:g.16827476_16827484dup, NG_016267.1:g.27923_27930del, NG_016267.1:g.27929_27930del, NG_016267.1:g.27930del, NG_016267.1:g.27930dup, NG_016267.1:g.27929_27930dup, NG_016267.1:g.27928_27930dup, NG_016267.1:g.27927_27930dup, NG_016267.1:g.27926_27930dup, NG_016267.1:g.27922_27930dup

Select item 14914439446.

rs1491443944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:16782390 (GRCh38)
X:16800514 (GRCh37)
Canonical SPDI:: NC_000023.11:16782390:T:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000023.11:g.16782391dup, NC_000023.10:g.16800514dup, NG_016267.1:g.960dup

Select item 14914406987.

rs1491440698 has merged into rs199860750 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: X:16797294 (GRCh38)
X:16815417 (GRCh37)
Canonical SPDI:: NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:16797281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TXLNG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3716/1378 (TWINSUK)
A=0.3787/1094 (ALSPAC)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000023.11:g.16797294_16797297del, NC_000023.11:g.16797295_16797297del, NC_000023.11:g.16797296_16797297del, NC_000023.11:g.16797297del, NC_000023.11:g.16797297dup, NC_000023.11:g.16797296_16797297dup, NC_000023.11:g.16797295_16797297dup, NC_000023.10:g.16815417_16815420del, NC_000023.10:g.16815418_16815420del, NC_000023.10:g.16815419_16815420del, NC_000023.10:g.16815420del, NC_000023.10:g.16815420dup, NC_000023.10:g.16815419_16815420dup, NC_000023.10:g.16815418_16815420dup, NG_016267.1:g.15863_15866del, NG_016267.1:g.15864_15866del, NG_016267.1:g.15865_15866del, NG_016267.1:g.15866del, NG_016267.1:g.15866dup, NG_016267.1:g.15865_15866dup, NG_016267.1:g.15864_15866dup

Select item 14914084938.

rs1491408493 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:16844617 (GRCh38)
X:16862741 (GRCh37)
Canonical SPDI:: NC_000023.11:16844617::G
Gene:: RBBP7 (Varview), TXLNG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000074/2 (GnomAD)
HGVS:: NC_000023.11:g.16844617_16844618insG, NC_000023.10:g.16862740_16862741insG, NG_016267.1:g.63186_63187insG, NM_002893.4:c.*417_*418insC, NM_001198719.2:c.*417_*418insC, XM_047442291.1:c.*417_*418insC, XM_047442292.1:c.*417_*418insC

Select item 14912608319.

rs1491260831 has merged into rs199527837 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:16821140 (GRCh38)
X:16839263 (GRCh37)
Canonical SPDI:: NC_000023.11:16821138:TCT:T
Gene:: TXLNG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.23813/3611 (ALFA)
-=0.225/9 (GENOME_DK)
TC=0.31927/3115 (TOMMO)
TC=0.34891/1008 (ALSPAC)
TC=0.42638/1581 (TWINSUK)
-=0.46426/20957 (GnomAD)
HGVS:: NC_000023.11:g.16821140_16821141del, NC_000023.10:g.16839263_16839264del, NG_016267.1:g.39709_39710del

Select item 149107927110.

rs1491079271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: X:16833645 (GRCh38)
X:16851768 (GRCh37)
Canonical SPDI:: NC_000023.11:16833643:CTC:C
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.16833645_16833646del, NC_000023.10:g.16851768_16851769del, NG_016267.1:g.52214_52215del

Select item 149103388911.

rs1491033889 has merged into rs200825105 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: X:16841203 (GRCh38)
X:16859326 (GRCh37)
Canonical SPDI:: NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:16841193:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: TXLNG (Varview), LOC124905251 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000049/13 (TOPMED)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000023.11:g.16841203_16841206del, NC_000023.11:g.16841204_16841206del, NC_000023.11:g.16841205_16841206del, NC_000023.11:g.16841206del, NC_000023.11:g.16841206dup, NC_000023.11:g.16841205_16841206dup, NC_000023.10:g.16859326_16859329del, NC_000023.10:g.16859327_16859329del, NC_000023.10:g.16859328_16859329del, NC_000023.10:g.16859329del, NC_000023.10:g.16859329dup, NC_000023.10:g.16859328_16859329dup, NG_016267.1:g.59772_59775del, NG_016267.1:g.59773_59775del, NG_016267.1:g.59774_59775del, NG_016267.1:g.59775del, NG_016267.1:g.59775dup, NG_016267.1:g.59774_59775dup

Select item 149097066012.

rs1490970660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16781831 (GRCh38)
X:16799954 (GRCh37)
Canonical SPDI:: NC_000023.11:16781830:T:C
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.16781831T>C, NC_000023.10:g.16799954T>C, NG_016267.1:g.400T>C

Select item 149094782913.

rs1490947829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:16782393 (GRCh38)
X:16800516 (GRCh37)
Canonical SPDI:: NC_000023.11:16782392:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.16782393T>A, NC_000023.10:g.16800516T>A, NG_016267.1:g.962T>A

Select item 149092403514.

rs1490924035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:16845007 (GRCh38)
X:16863130 (GRCh37)
Canonical SPDI:: NC_000023.11:16845006:C:A
Gene:: RBBP7 (Varview), TXLNG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.16845007C>A, NC_000023.10:g.16863130C>A, NG_016267.1:g.63576C>A, NM_002893.4:c.*28G>T, NM_002893.3:c.*28G>T, NM_001198719.2:c.*28G>T, NM_001198719.1:c.*28G>T, XM_047442291.1:c.*28G>T, XM_047442292.1:c.*28G>T

Select item 149075562615.

rs1490755626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16843827 (GRCh38)
X:16861950 (GRCh37)
Canonical SPDI:: NC_000023.11:16843826:A:G
Gene:: TXLNG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.16843827A>G, NC_000023.10:g.16861950A>G, NG_016267.1:g.62396A>G, NM_018360.3:c.*2061A>G, NM_018360.2:c.*2061A>G, NM_001168683.2:c.*2061A>G, NM_001168683.1:c.*2061A>G, XM_017029631.2:c.*2061A>G, XM_017029631.1:c.*2061A>G, XM_024452400.2:c.*2061A>G, XM_024452400.1:c.*2061A>G

Select item 149072677516.

rs1490726775 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:16825501 (GRCh38)
X:16843624 (GRCh37)
Canonical SPDI:: NC_000023.11:16825499:AAA:A
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.16825501_16825502del, NC_000023.10:g.16843624_16843625del, NG_016267.1:g.44070_44071del

Select item 149069187717.

rs1490691877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:16785025 (GRCh38)
X:16803148 (GRCh37)
Canonical SPDI:: NC_000023.11:16785024:T:C,NC_000023.11:16785024:T:G
Gene:: TXLNG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.00001/1 (GnomAD)
G=0.0009/12 (TOMMO)
HGVS:: NC_000023.11:g.16785025T>C, NC_000023.11:g.16785025T>G, NC_000023.10:g.16803148T>C, NC_000023.10:g.16803148T>G, NG_016267.1:g.3594T>C, NG_016267.1:g.3594T>G

Select item 149069126018.

rs1490691260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:16824109 (GRCh38)
X:16842232 (GRCh37)
Canonical SPDI:: NC_000023.11:16824108:C:T
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.16824109C>T, NC_000023.10:g.16842232C>T, NG_016267.1:g.42678C>T

Select item 149067214319.

rs1490672143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16806456 (GRCh38)
X:16824579 (GRCh37)
Canonical SPDI:: NC_000023.11:16806455:A:G
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.16806456A>G, NC_000023.10:g.16824579A>G, NG_016267.1:g.25025A>G

Select item 149062320120.

rs1490623201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:16805031 (GRCh38)
X:16823154 (GRCh37)
Canonical SPDI:: NC_000023.11:16805030:G:A
Gene:: TXLNG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.16805031G>A, NC_000023.10:g.16823154G>A, NG_016267.1:g.23600G>A

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