SNP Links for Nucleotide (Select 296278242) - SNP

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Select item 14915891991.

rs1491589199 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:69169345 (GRCh38)
X:68389189 (GRCh37)
Canonical SPDI:: NC_000023.11:69169345::G
Validated:: by frequency
MAF:: G=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.69169345_69169346insG, NC_000023.10:g.68389188_68389189insG, NG_021258.1:g.1177_1178insC

Select item 14914765162.

rs1491476516 has merged into rs143977821 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: X:69166298 (GRCh38)
X:68386141 (GRCh37)
Canonical SPDI:: NC_000023.11:69166292:GGGGGGG:GGGGG,NC_000023.11:69166292:GGGGGGG:GGGGGG,NC_000023.11:69166292:GGGGGGG:GGGGGGGG,NC_000023.11:69166292:GGGGGGG:GGGGGGGGG
Gene:: PJA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
G=0.166285/628 (1000Genomes)
G=0.275/11 (GENOME_DK)
G=0.354099/1313 (TWINSUK)
G=0.358948/1037 (ALSPAC)
HGVS:: NC_000023.11:g.69166298_69166299del, NC_000023.11:g.69166299del, NC_000023.11:g.69166299dup, NC_000023.11:g.69166298_69166299dup, NC_000023.10:g.68386141_68386142del, NC_000023.10:g.68386142del, NC_000023.10:g.68386142dup, NC_000023.10:g.68386141_68386142dup, NG_021258.1:g.4229_4230del, NG_021258.1:g.4230del, NG_021258.1:g.4230dup, NG_021258.1:g.4229_4230dup

Select item 14914481543.

rs1491448154 has merged into rs746516935 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:69167365 (GRCh38)
X:68387208 (GRCh37)
Canonical SPDI:: NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:69167353:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AA=0.126687/366 (ALSPAC)
AA=0.150216/557 (TWINSUK)
HGVS:: NC_000023.11:g.69167365_69167373del, NC_000023.11:g.69167369_69167373del, NC_000023.11:g.69167370_69167373del, NC_000023.11:g.69167371_69167373del, NC_000023.11:g.69167372_69167373del, NC_000023.11:g.69167373del, NC_000023.11:g.69167373dup, NC_000023.11:g.69167372_69167373dup, NC_000023.11:g.69167371_69167373dup, NC_000023.11:g.69167370_69167373dup, NC_000023.11:g.69167369_69167373dup, NC_000023.11:g.69167368_69167373dup, NC_000023.11:g.69167367_69167373dup, NC_000023.11:g.69167366_69167373dup, NC_000023.11:g.69167365_69167373dup, NC_000023.11:g.69167364_69167373dup, NC_000023.11:g.69167363_69167373dup, NC_000023.11:g.69167362_69167373dup, NC_000023.11:g.69167360_69167373dup, NC_000023.11:g.69167359_69167373dup, NC_000023.11:g.69167358_69167373dup, NC_000023.11:g.69167373_69167374insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.68387208_68387216del, NC_000023.10:g.68387212_68387216del, NC_000023.10:g.68387213_68387216del, NC_000023.10:g.68387214_68387216del, NC_000023.10:g.68387215_68387216del, NC_000023.10:g.68387216del, NC_000023.10:g.68387216dup, NC_000023.10:g.68387215_68387216dup, NC_000023.10:g.68387214_68387216dup, NC_000023.10:g.68387213_68387216dup, NC_000023.10:g.68387212_68387216dup, NC_000023.10:g.68387211_68387216dup, NC_000023.10:g.68387210_68387216dup, NC_000023.10:g.68387209_68387216dup, NC_000023.10:g.68387208_68387216dup, NC_000023.10:g.68387207_68387216dup, NC_000023.10:g.68387206_68387216dup, NC_000023.10:g.68387205_68387216dup, NC_000023.10:g.68387203_68387216dup, NC_000023.10:g.68387202_68387216dup, NC_000023.10:g.68387201_68387216dup, NC_000023.10:g.68387216_68387217insAAAAAAAAAAAAAAAAAAAAAAA, NG_021258.1:g.3161_3169del, NG_021258.1:g.3165_3169del, NG_021258.1:g.3166_3169del, NG_021258.1:g.3167_3169del, NG_021258.1:g.3168_3169del, NG_021258.1:g.3169del, NG_021258.1:g.3169dup, NG_021258.1:g.3168_3169dup, NG_021258.1:g.3167_3169dup, NG_021258.1:g.3166_3169dup, NG_021258.1:g.3165_3169dup, NG_021258.1:g.3164_3169dup, NG_021258.1:g.3163_3169dup, NG_021258.1:g.3162_3169dup, NG_021258.1:g.3161_3169dup, NG_021258.1:g.3160_3169dup, NG_021258.1:g.3159_3169dup, NG_021258.1:g.3158_3169dup, NG_021258.1:g.3156_3169dup, NG_021258.1:g.3155_3169dup, NG_021258.1:g.3154_3169dup, NG_021258.1:g.3169_3170insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914434314.

rs1491443431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:69169346 (GRCh38)
X:68389189 (GRCh37)
Canonical SPDI:: NC_000023.11:69169344:AAA:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.69169346_69169347del, NC_000023.10:g.68389189_68389190del, NG_021258.1:g.1177_1178del

Select item 14912840365.

rs1491284036 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:69167353 (GRCh38)
X:68387196 (GRCh37)
Canonical SPDI:: NC_000023.11:69167352:CA:
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000023.11:g.69167353_69167354del, NC_000023.10:g.68387196_68387197del, NG_021258.1:g.3169_3170del

Select item 14912200506.

rs1491220050 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:69160720 (GRCh38)
X:68380563 (GRCh37)
Canonical SPDI:: NC_000023.11:69160719:AT:
Gene:: PJA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00012/2 (ALFA)
-=0.00018/4 (TOMMO)
HGVS:: NC_000023.11:g.69160720_69160721del, NC_000023.10:g.68380563_68380564del, NG_021258.1:g.9802_9803del

Select item 14911522037.

rs1491152203 has merged into rs34008712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTCTTTTTTTTTAATTCTCTTCCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTCTTCCTTTCTTTTTTTTCTTCTTTTTAATTTCTCTCCCTTCTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:69160730 (GRCh38)
X:68380573 (GRCh37)
Canonical SPDI:: NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTCTTTTTTTTTAATTCTCTTCCTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:69160720:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTCTTCCTTTCTTTTTTTTCTTCTTTTTAATTTCTCTCCCTTCTTTTTTTTTTTTTTTTTTT
Gene:: PJA1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1494/564 (1000Genomes)
HGVS:: NC_000023.11:g.69160730_69160738del, NC_000023.11:g.69160731_69160738del, NC_000023.11:g.69160734_69160738del, NC_000023.11:g.69160735_69160738del, NC_000023.11:g.69160736_69160738del, NC_000023.11:g.69160737_69160738del, NC_000023.11:g.69160738del, NC_000023.11:g.69160738dup, NC_000023.11:g.69160721_69160738T[19]CTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTCTTTTTTTTTAATTCTCTTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.11:g.69160721_69160738T[25]CTTTTTTT[2]T[7]CTTCCTTTCTTTTTTTTCTTCTTTTTAATTTCTCTCCCTTCTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.68380573_68380581del, NC_000023.10:g.68380574_68380581del, NC_000023.10:g.68380577_68380581del, NC_000023.10:g.68380578_68380581del, NC_000023.10:g.68380579_68380581del, NC_000023.10:g.68380580_68380581del, NC_000023.10:g.68380581del, NC_000023.10:g.68380581dup, NC_000023.10:g.68380564_68380581T[19]CTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTCTTTTTTTTTAATTCTCTTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.68380564_68380581T[25]CTTTTTTT[2]T[7]CTTCCTTTCTTTTTTTTCTTCTTTTTAATTTCTCTCCCTTCTTTTTTTTTTTTTTTTTTT[1], NG_021258.1:g.9794_9802del, NG_021258.1:g.9795_9802del, NG_021258.1:g.9798_9802del, NG_021258.1:g.9799_9802del, NG_021258.1:g.9800_9802del, NG_021258.1:g.9801_9802del, NG_021258.1:g.9802del, NG_021258.1:g.9802dup, NG_021258.1:g.9785_9802A[23]GGAAGAGAATTAAAAAAAAAGAAAAAAAAGAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA[1], NG_021258.1:g.9785_9802A[19]GAAGGGAGAGAAATTAAAAAGAAGAAAAAAAAGAAAGGAAGAAAAAAAAAAAAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14910806518.

rs1491080651 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: X:69168300 (GRCh38)
X:68388144 (GRCh37)
Canonical SPDI:: NC_000023.11:69168300:T:TGT,NC_000023.11:69168300:T:TGTGT
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.00031/5 (ALFA)
TG=0.00081/10 (TOMMO)
TG=0.00232/188 (GnomAD)
HGVS:: NC_000023.11:g.69168301_69168302insGT, NC_000023.11:g.69168301_69168302insGTGT, NC_000023.10:g.68388144_68388145insGT, NC_000023.10:g.68388144_68388145insGTGT, NG_021258.1:g.2222_2223insCA, NG_021258.1:g.2222_2223insCACA

Select item 14910700949.

rs1491070094 has merged into rs10654562 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: X:69169358 (GRCh38)
X:68389201 (GRCh37)
Canonical SPDI:: NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:69169346:AGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.375/15 (GENOME_DK)
HGVS:: NC_000023.11:g.69169348GA[5], NC_000023.11:g.69169348GA[7], NC_000023.11:g.69169348GA[8], NC_000023.11:g.69169348GA[9], NC_000023.11:g.69169348GA[10], NC_000023.11:g.69169348GA[11], NC_000023.11:g.69169348GA[13], NC_000023.11:g.69169348GA[14], NC_000023.11:g.69169348GA[15], NC_000023.11:g.69169348GA[16], NC_000023.11:g.69169348GA[17], NC_000023.11:g.69169348GA[18], NC_000023.11:g.69169348GA[19], NC_000023.11:g.69169348GA[20], NC_000023.11:g.69169348GA[21], NC_000023.11:g.69169348GA[22], NC_000023.11:g.69169348GA[24], NC_000023.10:g.68389191GA[5], NC_000023.10:g.68389191GA[7], NC_000023.10:g.68389191GA[8], NC_000023.10:g.68389191GA[9], NC_000023.10:g.68389191GA[10], NC_000023.10:g.68389191GA[11], NC_000023.10:g.68389191GA[13], NC_000023.10:g.68389191GA[14], NC_000023.10:g.68389191GA[15], NC_000023.10:g.68389191GA[16], NC_000023.10:g.68389191GA[17], NC_000023.10:g.68389191GA[18], NC_000023.10:g.68389191GA[19], NC_000023.10:g.68389191GA[20], NC_000023.10:g.68389191GA[21], NC_000023.10:g.68389191GA[22], NC_000023.10:g.68389191GA[24], NG_021258.1:g.1153CT[5], NG_021258.1:g.1153CT[7], NG_021258.1:g.1153CT[8], NG_021258.1:g.1153CT[9], NG_021258.1:g.1153CT[10], NG_021258.1:g.1153CT[11], NG_021258.1:g.1153CT[13], NG_021258.1:g.1153CT[14], NG_021258.1:g.1153CT[15], NG_021258.1:g.1153CT[16], NG_021258.1:g.1153CT[17], NG_021258.1:g.1153CT[18], NG_021258.1:g.1153CT[19], NG_021258.1:g.1153CT[20], NG_021258.1:g.1153CT[21], NG_021258.1:g.1153CT[22], NG_021258.1:g.1153CT[24]

Select item 149089670210.

rs1490896702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69164766 (GRCh38)
X:68384609 (GRCh37)
Canonical SPDI:: NC_000023.11:69164765:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.69164766C>T, NC_000023.10:g.68384609C>T, NG_021258.1:g.5757G>A

Select item 149086254211.

rs1490862542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:69163291 (GRCh38)
X:68383134 (GRCh37)
Canonical SPDI:: NC_000023.11:69163290:C:T
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.69163291C>T, NC_000023.10:g.68383134C>T, NG_021258.1:g.7232G>A, NM_022368.5:c.-53G>A, NM_022368.4:c.-53G>A, NM_145119.4:c.-53G>A, NM_145119.3:c.-53G>A, NM_001382775.1:c.-53G>A

Select item 148968592412.

rs1489685924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:69168979 (GRCh38)
X:68388822 (GRCh37)
Canonical SPDI:: NC_000023.11:69168978:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000096/10 (GnomAD)
A=0.000098/26 (TOPMED)
HGVS:: NC_000023.11:g.69168979G>A, NC_000023.10:g.68388822G>A, NG_021258.1:g.1544C>T

Select item 148947894513.

rs1489478945 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGAT,AGATCTT [Show Flanks]
Chromosome:: X:69159321 (GRCh38)
X:68379165 (GRCh37)
Canonical SPDI:: NC_000023.11:69159321::AGAT,NC_000023.11:69159321::AGATCTT
Validated:: by frequency,by alfa
MAF:: AGATCTT=0./0 (ALFA)
AGAT=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69159321_69159322insAGAT, NC_000023.11:g.69159321_69159322insAGATCTT, NC_000023.10:g.68379164_68379165insAGAT, NC_000023.10:g.68379164_68379165insAGATCTT, NG_021258.1:g.11201_11202insATCT, NG_021258.1:g.11201_11202insAAGATCT

Select item 148913858814.

rs1489138588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:69167005 (GRCh38)
X:68386848 (GRCh37)
Canonical SPDI:: NC_000023.11:69167004:A:C
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.69167005A>C, NC_000023.10:g.68386848A>C, NG_021258.1:g.3518T>G

Select item 148896079815.

rs1488960798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:69162167 (GRCh38)
X:68382010 (GRCh37)
Canonical SPDI:: NC_000023.11:69162166:A:G
Gene:: PJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.69162167A>G, NC_000023.10:g.68382010A>G, NG_021258.1:g.8356T>C, NM_022368.5:c.508T>C, NM_022368.4:c.508T>C, NM_145119.4:c.1072T>C, NM_145119.3:c.1072T>C, NM_001032396.4:c.907T>C, NM_001032396.3:c.907T>C, NM_001032396.2:c.907T>C, NM_001382775.1:c.1072T>C, NM_001382776.1:c.907T>C, NP_071763.2:p.Tyr170His, NP_660095.1:p.Tyr358His, NP_001027568.1:p.Tyr303His, NP_001369704.1:p.Tyr358His, NP_001369705.1:p.Tyr303His

Select item 148881538016.

rs1488815380 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:69167374 (GRCh38)
X:68387217 (GRCh37)
Canonical SPDI:: NC_000023.11:69167372:AGA:A
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.69167374_69167375del, NC_000023.10:g.68387217_68387218del, NG_021258.1:g.3149_3150del

Select item 148880871217.

rs1488808712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:69168419 (GRCh38)
X:68388262 (GRCh37)
Canonical SPDI:: NC_000023.11:69168418:A:T
HGVS:: NC_000023.11:g.69168419A>T, NC_000023.10:g.68388262A>T, NG_021258.1:g.2104T>A

Select item 148874518818.

rs1488745188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:69167133 (GRCh38)
X:68386976 (GRCh37)
Canonical SPDI:: NC_000023.11:69167132:T:A
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.69167133T>A, NC_000023.10:g.68386976T>A, NG_021258.1:g.3390A>T

Select item 148838726219.

rs1488387262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:69166472 (GRCh38)
X:68386315 (GRCh37)
Canonical SPDI:: NC_000023.11:69166471:T:A
Gene:: PJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00067/8 (ALFA)
A=0.02125/62 (KOREAN)
HGVS:: NC_000023.11:g.69166472T>A, NC_000023.10:g.68386315T>A, NG_021258.1:g.4051A>T

Select item 148827249320.

rs1488272493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:69163203 (GRCh38)
X:68383046 (GRCh37)
Canonical SPDI:: NC_000023.11:69163202:A:C
Gene:: PJA1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.69163203A>C, NC_000023.10:g.68383046A>C, NG_021258.1:g.7320T>G, NM_022368.5:c.36T>G, NM_022368.4:c.36T>G, NM_145119.4:c.36T>G, NM_145119.3:c.36T>G, NM_001382775.1:c.36T>G, NP_071763.2:p.Asn12Lys, NP_660095.1:p.Asn12Lys, NP_001369704.1:p.Asn12Lys

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