SNP Links for Gene (Select 100506054) - SNP

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Select item 14910681391.

rs1491068139 has merged into rs200397100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:3559336 (GRCh38)
2:3606926 (GRCh37)
Canonical SPDI:: NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:3559324:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.3249/1627 (1000Genomes)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.3559336_3559339del, NC_000002.12:g.3559337_3559339del, NC_000002.12:g.3559338_3559339del, NC_000002.12:g.3559339del, NC_000002.12:g.3559339dup, NC_000002.12:g.3559338_3559339dup, NC_000002.12:g.3559337_3559339dup, NC_000002.12:g.3559336_3559339dup, NC_000002.12:g.3559333_3559339dup, NC_000002.11:g.3606926_3606929del, NC_000002.11:g.3606927_3606929del, NC_000002.11:g.3606928_3606929del, NC_000002.11:g.3606929del, NC_000002.11:g.3606929dup, NC_000002.11:g.3606928_3606929dup, NC_000002.11:g.3606927_3606929dup, NC_000002.11:g.3606926_3606929dup, NC_000002.11:g.3606923_3606929dup, NG_051310.1:g.4044_4047del, NG_051310.1:g.4045_4047del, NG_051310.1:g.4046_4047del, NG_051310.1:g.4047del, NG_051310.1:g.4047dup, NG_051310.1:g.4046_4047dup, NG_051310.1:g.4045_4047dup, NG_051310.1:g.4044_4047dup, NG_051310.1:g.4041_4047dup

Select item 14905933642.

rs1490593364 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:3560541 (GRCh38)
2:3608131 (GRCh37)
Canonical SPDI:: NC_000002.12:3560540:TT:
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.3560541_3560542del, NC_000002.11:g.3608131_3608132del, NG_051310.1:g.2830_2831del

Select item 14904357933.

rs1490435793 has merged into rs56937502 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:3559775 (GRCh38)
2:3607365 (GRCh37)
Canonical SPDI:: NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:3559764:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.3559775_3559789del, NC_000002.12:g.3559776_3559789del, NC_000002.12:g.3559778_3559789del, NC_000002.12:g.3559779_3559789del, NC_000002.12:g.3559780_3559789del, NC_000002.12:g.3559781_3559789del, NC_000002.12:g.3559782_3559789del, NC_000002.12:g.3559783_3559789del, NC_000002.12:g.3559784_3559789del, NC_000002.12:g.3559785_3559789del, NC_000002.12:g.3559786_3559789del, NC_000002.12:g.3559787_3559789del, NC_000002.12:g.3559788_3559789del, NC_000002.12:g.3559789del, NC_000002.12:g.3559789dup, NC_000002.12:g.3559765_3559789T[26]A[7]T[29], NC_000002.12:g.3559788_3559789dup, NC_000002.12:g.3559787_3559789dup, NC_000002.12:g.3559786_3559789dup, NC_000002.12:g.3559785_3559789dup, NC_000002.12:g.3559784_3559789dup, NC_000002.12:g.3559783_3559789dup, NC_000002.12:g.3559782_3559789dup, NC_000002.11:g.3607365_3607379del, NC_000002.11:g.3607366_3607379del, NC_000002.11:g.3607368_3607379del, NC_000002.11:g.3607369_3607379del, NC_000002.11:g.3607370_3607379del, NC_000002.11:g.3607371_3607379del, NC_000002.11:g.3607372_3607379del, NC_000002.11:g.3607373_3607379del, NC_000002.11:g.3607374_3607379del, NC_000002.11:g.3607375_3607379del, NC_000002.11:g.3607376_3607379del, NC_000002.11:g.3607377_3607379del, NC_000002.11:g.3607378_3607379del, NC_000002.11:g.3607379del, NC_000002.11:g.3607379dup, NC_000002.11:g.3607355_3607379T[26]A[7]T[29], NC_000002.11:g.3607378_3607379dup, NC_000002.11:g.3607377_3607379dup, NC_000002.11:g.3607376_3607379dup, NC_000002.11:g.3607375_3607379dup, NC_000002.11:g.3607374_3607379dup, NC_000002.11:g.3607373_3607379dup, NC_000002.11:g.3607372_3607379dup, NG_051310.1:g.3593_3607del, NG_051310.1:g.3594_3607del, NG_051310.1:g.3596_3607del, NG_051310.1:g.3597_3607del, NG_051310.1:g.3598_3607del, NG_051310.1:g.3599_3607del, NG_051310.1:g.3600_3607del, NG_051310.1:g.3601_3607del, NG_051310.1:g.3602_3607del, NG_051310.1:g.3603_3607del, NG_051310.1:g.3604_3607del, NG_051310.1:g.3605_3607del, NG_051310.1:g.3606_3607del, NG_051310.1:g.3607del, NG_051310.1:g.3607dup, NG_051310.1:g.3583_3607A[29]T[7]A[26], NG_051310.1:g.3606_3607dup, NG_051310.1:g.3605_3607dup, NG_051310.1:g.3604_3607dup, NG_051310.1:g.3603_3607dup, NG_051310.1:g.3602_3607dup, NG_051310.1:g.3601_3607dup, NG_051310.1:g.3600_3607dup

Select item 14899435084.

rs1489943508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:3559450 (GRCh38)
2:3607040 (GRCh37)
Canonical SPDI:: NC_000002.12:3559449:C:A
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.3559450C>A, NC_000002.11:g.3607040C>A, NG_051310.1:g.3922G>T, NR_038430.1:n.659C>A, NR_038429.1:n.616C>A

Select item 14895648645.

rs1489564864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:3557067 (GRCh38)
2:3604657 (GRCh37)
Canonical SPDI:: NC_000002.12:3557066:T:A
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3557067T>A, NC_000002.11:g.3604657T>A, NG_051310.1:g.6305A>T

Select item 14895279176.

rs1489527917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:3556534 (GRCh38)
2:3604124 (GRCh37)
Canonical SPDI:: NC_000002.12:3556533:T:A,NC_000002.12:3556533:T:C
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3556534T>A, NC_000002.12:g.3556534T>C, NC_000002.11:g.3604124T>A, NC_000002.11:g.3604124T>C, NG_051310.1:g.6838A>T, NG_051310.1:g.6838A>G

Select item 14890344977.

rs1489034497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3561644 (GRCh38)
2:3609234 (GRCh37)
Canonical SPDI:: NC_000002.12:3561643:C:T
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3561644C>T, NC_000002.11:g.3609234C>T, NG_051310.1:g.1728G>A, NR_038430.1:n.1266C>T, NR_038429.1:n.1223C>T, NR_038431.1:n.940C>T

Select item 14880559788.

rs1488055978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:3561309 (GRCh38)
2:3608899 (GRCh37)
Canonical SPDI:: NC_000002.12:3561308:T:G
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3561309T>G, NC_000002.11:g.3608899T>G, NG_051310.1:g.2063A>C

Select item 14879988929.

rs1487998892 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTC>- [Show Flanks]
Chromosome:: 2:3560584 (GRCh38)
2:3608174 (GRCh37)
Canonical SPDI:: NC_000002.12:3560583:TCTC:
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.3560584_3560587del, NC_000002.11:g.3608174_3608177del, NG_051310.1:g.2785_2788del

Select item 148772329810.

rs1487723298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3558496 (GRCh38)
2:3606086 (GRCh37)
Canonical SPDI:: NC_000002.12:3558495:G:A
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.3558496G>A, NC_000002.11:g.3606086G>A, NG_051310.1:g.4876C>T, NR_038430.1:n.110G>A, NR_038429.1:n.111G>A, NR_038431.1:n.110G>A

Select item 148705103811.

rs1487051038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTCTTTCTTTTCTT>- [Show Flanks]
Chromosome:: 2:3560608 (GRCh38)
2:3608198 (GRCh37)
Canonical SPDI:: NC_000002.12:3560592:TTTCTTTCTTTTCTTGTTTCTTTCTTTTCTT:TTTCTTTCTTTTCTT
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTTTCTT=0./0 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.3560608_3560623del, NC_000002.11:g.3608198_3608213del, NG_051310.1:g.2764_2779del

Select item 148678177512.

rs1486781775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3559340 (GRCh38)
2:3606930 (GRCh37)
Canonical SPDI:: NC_000002.12:3559339:G:A
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.3559340G>A, NC_000002.11:g.3606930G>A, NG_051310.1:g.4032C>T

Select item 148660804513.

rs1486608045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3559104 (GRCh38)
2:3606694 (GRCh37)
Canonical SPDI:: NC_000002.12:3559103:C:G
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.3559104C>G, NC_000002.11:g.3606694C>G, NG_051310.1:g.4268G>C

Select item 148628435114.

rs1486284351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3560005 (GRCh38)
2:3607595 (GRCh37)
Canonical SPDI:: NC_000002.12:3560004:C:T
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.3560005C>T, NC_000002.11:g.3607595C>T, NG_051310.1:g.3367G>A

Select item 148601618715.

rs1486016187 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:3561805 (GRCh38)
2:3609396 (GRCh37)
Canonical SPDI:: NC_000002.12:3561805:A:AA
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.3561806dup, NC_000002.11:g.3609396dup, NG_051310.1:g.1566dup

Select item 148561434916.

rs1485614349 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:3558406 (GRCh38)
2:3605996 (GRCh37)
Canonical SPDI:: NC_000002.12:3558405:GGGG:GGG
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.3558409del, NC_000002.11:g.3605999del, NG_051310.1:g.4966del, NR_038430.1:n.23del, NR_038429.1:n.24del, NR_038431.1:n.23del

Select item 148478834917.

rs1484788349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:3557345 (GRCh38)
2:3604935 (GRCh37)
Canonical SPDI:: NC_000002.12:3557344:C:G,NC_000002.12:3557344:C:T
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.3557345C>G, NC_000002.12:g.3557345C>T, NC_000002.11:g.3604935C>G, NC_000002.11:g.3604935C>T, NG_051310.1:g.6027G>C, NG_051310.1:g.6027G>A

Select item 148477958118.

rs1484779581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:3561967 (GRCh38)
2:3609557 (GRCh37)
Canonical SPDI:: NC_000002.12:3561966:G:C
Gene:: RNASEH1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000002.12:g.3561967G>C, NC_000002.11:g.3609557G>C, NG_051310.1:g.1405C>G

Select item 148419368219.

rs1484193682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3559804 (GRCh38)
2:3607394 (GRCh37)
Canonical SPDI:: NC_000002.12:3559803:T:C
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3559804T>C, NC_000002.11:g.3607394T>C, NG_051310.1:g.3568A>G

Select item 148408015020.

rs1484080150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:3557615 (GRCh38)
2:3605205 (GRCh37)
Canonical SPDI:: NC_000002.12:3557614:T:C,NC_000002.12:3557614:T:G
Gene:: RNASEH1 (Varview), RNASEH1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
HGVS:: NC_000002.12:g.3557615T>C, NC_000002.12:g.3557615T>G, NC_000002.11:g.3605205T>C, NC_000002.11:g.3605205T>G, NG_051310.1:g.5757A>G, NG_051310.1:g.5757A>C

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