SNP Links for Gene (Select 25898) - SNP

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Select item 14915810221.

rs1491581022 has merged into rs1235989484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATTCATAATATATATTCATAATATATATATAT [Show Flanks]
Chromosome:: 4:75487859 (GRCh38)
4:76413069 (GRCh37)
Canonical SPDI:: NC_000004.12:75487852:ATATATATAT:ATATAT,NC_000004.12:75487852:ATATATATAT:ATATATAT,NC_000004.12:75487852:ATATATATAT:ATATATATATAT,NC_000004.12:75487852:ATATATATAT:ATATATATATATTCATAATATATATTCATAATATATATATAT
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
AT=0.03704/20 (NorthernSweden)
HGVS:: NC_000004.12:g.75487853AT[3], NC_000004.12:g.75487853AT[4], NC_000004.12:g.75487853AT[6], NC_000004.12:g.75487853_75487862AT[6]TCATAATATATAT[2]AT[2], NC_000004.11:g.76413063AT[3], NC_000004.11:g.76413063AT[4], NC_000004.11:g.76413063AT[6], NC_000004.11:g.76413063_76413072AT[6]TCATAATATATAT[2]AT[2], NG_029152.1:g.31569AT[3], NG_029152.1:g.31569AT[4], NG_029152.1:g.31569AT[6], NG_029152.1:g.31569_31578AT[6]TATGAATATATAT[2]AT[2]

Select item 14915575962.

rs1491557596 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:75487565 (GRCh38)
4:76412775 (GRCh37)
Canonical SPDI:: NC_000004.12:75487564:AA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
-=0.00018/3 (TOMMO)
HGVS:: NC_000004.12:g.75487565_75487566del, NC_000004.11:g.76412775_76412776del, NG_029152.1:g.31865_31866del

Select item 14915410843.

rs1491541084 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:75487824 (GRCh38)
4:76413034 (GRCh37)
Canonical SPDI:: NC_000004.12:75487823:AA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00008/4 (GnomAD)
HGVS:: NC_000004.12:g.75487824_75487825del, NC_000004.11:g.76413034_76413035del, NG_029152.1:g.31606_31607del

Select item 14915365764.

rs1491536576 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TCATTAT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914845535.

rs1491484553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA,ATATA,ATATATTCATAATA [Show Flanks]
Chromosome:: 4:75487577 (GRCh38)
4:76412788 (GRCh37)
Canonical SPDI:: NC_000004.12:75487577:ATA:ATAATA,NC_000004.12:75487577:ATA:ATAATATA,NC_000004.12:75487577:ATA:ATAATATATTCATAATA
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATATA=0./0 (ALFA)
AATAT=0.00553/8 (Korea1K)
HGVS:: NC_000004.12:g.75487578_75487580dup, NC_000004.12:g.75487578_75487580ATA[2]TA[1], NC_000004.12:g.75487578_75487580ATA[2]TATTCATAATA[1], NC_000004.11:g.76412788_76412790dup, NC_000004.11:g.76412788_76412790ATA[2]TA[1], NC_000004.11:g.76412788_76412790ATA[2]TATTCATAATA[1], NG_029152.1:g.31851_31853dup, NG_029152.1:g.31851_31853TA[2]TTAT[1], NG_029152.1:g.31851_31853TAT[2]GAATATATTAT[1]

Select item 14914068496.

rs1491406849 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:75487539 (GRCh38)
4:76412749 (GRCh37)
Canonical SPDI:: NC_000004.12:75487538:AA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.75487539_75487540del, NC_000004.11:g.76412749_76412750del, NG_029152.1:g.31891_31892del

Select item 14913422987.

rs1491342298 has merged into rs1389119781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 4:75487479 (GRCh38)
4:76412689 (GRCh37)
Canonical SPDI:: NC_000004.12:75487473:ATATATATA:ATATA,NC_000004.12:75487473:ATATATATA:ATATATA,NC_000004.12:75487473:ATATATATA:ATATATATATA
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000004.12:g.75487475TA[2], NC_000004.12:g.75487475TA[3], NC_000004.12:g.75487475TA[5], NC_000004.11:g.76412685TA[2], NC_000004.11:g.76412685TA[3], NC_000004.11:g.76412685TA[5], NG_029152.1:g.31950AT[2], NG_029152.1:g.31950AT[3], NG_029152.1:g.31950AT[5]

Select item 14913143198.

rs1491314319 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:75487577 (GRCh38)
4:76412787 (GRCh37)
Canonical SPDI:: NC_000004.12:75487576:CA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.75487577_75487578del, NC_000004.11:g.76412787_76412788del, NG_029152.1:g.31853_31854del

Select item 14912707779.

rs1491270777 has merged into rs1288170597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 4:75487831 (GRCh38)
4:76413041 (GRCh37)
Canonical SPDI:: NC_000004.12:75487824:ATATATATAT:ATATAT,NC_000004.12:75487824:ATATATATAT:ATATATAT,NC_000004.12:75487824:ATATATATAT:ATATATATATAT
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00051/8 (TOMMO)
HGVS:: NC_000004.12:g.75487825AT[3], NC_000004.12:g.75487825AT[4], NC_000004.12:g.75487825AT[6], NC_000004.11:g.76413035AT[3], NC_000004.11:g.76413035AT[4], NC_000004.11:g.76413035AT[6], NG_029152.1:g.31597AT[3], NG_029152.1:g.31597AT[4], NG_029152.1:g.31597AT[6]

Select item 149125085310.

rs1491250853 has merged into rs57789217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:75498491 (GRCh38)
4:76423701 (GRCh37)
Canonical SPDI:: NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:75498481:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3163/1584 (1000Genomes)
HGVS:: NC_000004.12:g.75498491_75498499del, NC_000004.12:g.75498492_75498499del, NC_000004.12:g.75498494_75498499del, NC_000004.12:g.75498495_75498499del, NC_000004.12:g.75498496_75498499del, NC_000004.12:g.75498497_75498499del, NC_000004.12:g.75498498_75498499del, NC_000004.12:g.75498499del, NC_000004.12:g.75498499dup, NC_000004.12:g.75498498_75498499dup, NC_000004.12:g.75498497_75498499dup, NC_000004.12:g.75498496_75498499dup, NC_000004.12:g.75498495_75498499dup, NC_000004.12:g.75498494_75498499dup, NC_000004.12:g.75498493_75498499dup, NC_000004.12:g.75498486_75498499dup, NC_000004.12:g.75498485_75498499dup, NC_000004.12:g.75498499_75498500insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.75498499_75498500insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76423701_76423709del, NC_000004.11:g.76423702_76423709del, NC_000004.11:g.76423704_76423709del, NC_000004.11:g.76423705_76423709del, NC_000004.11:g.76423706_76423709del, NC_000004.11:g.76423707_76423709del, NC_000004.11:g.76423708_76423709del, NC_000004.11:g.76423709del, NC_000004.11:g.76423709dup, NC_000004.11:g.76423708_76423709dup, NC_000004.11:g.76423707_76423709dup, NC_000004.11:g.76423706_76423709dup, NC_000004.11:g.76423705_76423709dup, NC_000004.11:g.76423704_76423709dup, NC_000004.11:g.76423703_76423709dup, NC_000004.11:g.76423696_76423709dup, NC_000004.11:g.76423695_76423709dup, NC_000004.11:g.76423709_76423710insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.76423709_76423710insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029152.1:g.20941_20949del, NG_029152.1:g.20942_20949del, NG_029152.1:g.20944_20949del, NG_029152.1:g.20945_20949del, NG_029152.1:g.20946_20949del, NG_029152.1:g.20947_20949del, NG_029152.1:g.20948_20949del, NG_029152.1:g.20949del, NG_029152.1:g.20949dup, NG_029152.1:g.20948_20949dup, NG_029152.1:g.20947_20949dup, NG_029152.1:g.20946_20949dup, NG_029152.1:g.20945_20949dup, NG_029152.1:g.20944_20949dup, NG_029152.1:g.20943_20949dup, NG_029152.1:g.20936_20949dup, NG_029152.1:g.20935_20949dup, NG_029152.1:g.20949_20950insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029152.1:g.20949_20950insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149121111711.

rs1491211117 has merged into rs1267198319 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 4:75487572 (GRCh38)
4:76412782 (GRCh37)
Canonical SPDI:: NC_000004.12:75487565:ATATATATAT:ATATAT,NC_000004.12:75487565:ATATATATAT:ATATATAT,NC_000004.12:75487565:ATATATATAT:ATATATATATAT
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00617/10 (Korea1K)
-=0.0085/5 (NorthernSweden)
-=0.01094/177 (TOMMO)
HGVS:: NC_000004.12:g.75487566AT[3], NC_000004.12:g.75487566AT[4], NC_000004.12:g.75487566AT[6], NC_000004.11:g.76412776AT[3], NC_000004.11:g.76412776AT[4], NC_000004.11:g.76412776AT[6], NG_029152.1:g.31856AT[3], NG_029152.1:g.31856AT[4], NG_029152.1:g.31856AT[6]

Select item 149116451112.

rs1491164511 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:75482006 (GRCh38)
4:76407216 (GRCh37)
Canonical SPDI:: NC_000004.12:75482004:ACA:A,NC_000004.12:75482004:ACA:ACACA
Gene:: RCHY1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000057/4 (GnomAD)
HGVS:: NC_000004.12:g.75482006_75482007del, NC_000004.12:g.75482006_75482007dup, NC_000004.11:g.76407216_76407217del, NC_000004.11:g.76407216_76407217dup, NG_029152.1:g.37425_37426del, NG_029152.1:g.37425_37426dup, NM_015436.4:c.*532_*533del, NM_015436.4:c.*532_*533dup, NM_015436.3:c.*532_*533del, NM_015436.3:c.*532_*533dup, NM_001009922.3:c.*532_*533del, NM_001009922.3:c.*532_*533dup, NM_001009922.2:c.*532_*533del, NM_001009922.2:c.*532_*533dup, NM_001278539.2:c.*532_*533del, NM_001278539.2:c.*532_*533dup, NM_001278539.1:c.*532_*533del, NM_001278539.1:c.*532_*533dup, NM_001278538.2:c.*532_*533del, NM_001278538.2:c.*532_*533dup, NM_001278538.1:c.*532_*533del, NM_001278538.1:c.*532_*533dup, NM_001278536.2:c.*532_*533del, NM_001278536.2:c.*532_*533dup, NM_001278536.1:c.*532_*533del, NM_001278536.1:c.*532_*533dup, NM_001278537.2:c.*532_*533del, NM_001278537.2:c.*532_*533dup, NM_001278537.1:c.*532_*533del, NM_001278537.1:c.*532_*533dup, NR_037913.1:n.1490_1491del, NR_037913.1:n.1490_1491dup, NR_037914.1:n.1486_1487del, NR_037914.1:n.1486_1487dup, NR_103723.1:n.1460_1461del, NR_103723.1:n.1460_1461dup, NM_001387137.1:c.*532_*533del, NM_001387137.1:c.*532_*533dup, NR_103724.1:n.1424_1425del, NR_103724.1:n.1424_1425dup, NM_001387136.1:c.*532_*533del, NM_001387136.1:c.*532_*533dup, NR_103725.1:n.1209_1210del, NR_103725.1:n.1209_1210dup, NM_001008925.2:c.*713_*714del, NM_001008925.2:c.*713_*714dup, XM_024453984.2:c.*532_*533del, XM_024453984.2:c.*532_*533dup, XM_024453984.1:c.*532_*533del, XM_024453984.1:c.*532_*533dup, NM_001008925.1:c.*713_*714del, NM_001008925.1:c.*713_*714dup, XM_047450036.1:c.*532_*533del, XM_047450036.1:c.*532_*533dup

Select item 149115597913.

rs1491155979 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:75487852 (GRCh38)
4:76413062 (GRCh37)
Canonical SPDI:: NC_000004.12:75487851:AA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/4 (GnomAD)
-=0.00025/4 (TOMMO)
HGVS:: NC_000004.12:g.75487852_75487853del, NC_000004.11:g.76413062_76413063del, NG_029152.1:g.31578_31579del

Select item 149115278514.

rs1491152785 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:75498481 (GRCh38)
4:76423691 (GRCh37)
Canonical SPDI:: NC_000004.12:75498480:CA:
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.75498481_75498482del, NC_000004.11:g.76423691_76423692del, NG_029152.1:g.20949_20950del

Select item 149114437915.

rs1491144379 has merged into rs1180954161 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATTCATAATATATATATTCATAATATATATATAT [Show Flanks]
Chromosome:: 4:75487546 (GRCh38)
4:76412756 (GRCh37)
Canonical SPDI:: NC_000004.12:75487539:ATATATATAT:ATATAT,NC_000004.12:75487539:ATATATATAT:ATATATAT,NC_000004.12:75487539:ATATATATAT:ATATATATATAT,NC_000004.12:75487539:ATATATATAT:ATATATATATATTCATAATATATATATTCATAATATATATATAT
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00833/5 (NorthernSweden)
HGVS:: NC_000004.12:g.75487540AT[3], NC_000004.12:g.75487540AT[4], NC_000004.12:g.75487540AT[6], NC_000004.12:g.75487540_75487549AT[6]TCATAATATATATAT[2]AT[1], NC_000004.11:g.76412750AT[3], NC_000004.11:g.76412750AT[4], NC_000004.11:g.76412750AT[6], NC_000004.11:g.76412750_76412759AT[6]TCATAATATATATAT[2]AT[1], NG_029152.1:g.31882AT[3], NG_029152.1:g.31882AT[4], NG_029152.1:g.31882AT[6], NG_029152.1:g.31882_31891AT[6]TATGAATATATATAT[2]AT[1]

Select item 149075630116.

rs1490756301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:75506689 (GRCh38)
4:76431899 (GRCh37)
Canonical SPDI:: NC_000004.12:75506688:G:C
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75506689G>C, NC_000004.11:g.76431899G>C, NG_029152.1:g.12742C>G

Select item 149074718217.

rs1490747182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75507055 (GRCh38)
4:76432265 (GRCh37)
Canonical SPDI:: NC_000004.12:75507054:G:A
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.75507055G>A, NC_000004.11:g.76432265G>A, NG_029152.1:g.12376C>T

Select item 149068861718.

rs1490688617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75504505 (GRCh38)
4:76429715 (GRCh37)
Canonical SPDI:: NC_000004.12:75504504:T:C
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.75504505T>C, NC_000004.11:g.76429715T>C, NG_029152.1:g.14926A>G

Select item 149050619319.

rs1490506193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:75491300 (GRCh38)
4:76416510 (GRCh37)
Canonical SPDI:: NC_000004.12:75491299:A:C
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.75491300A>C, NC_000004.11:g.76416510A>C, NG_029152.1:g.28131T>G

Select item 149043487920.

rs1490434879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75492470 (GRCh38)
4:76417680 (GRCh37)
Canonical SPDI:: NC_000004.12:75492469:G:A
Gene:: RCHY1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75492470G>A, NC_000004.11:g.76417680G>A, NG_029152.1:g.26961C>T

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