SNP Links for Gene (Select 2886) - SNP

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Select item 14914788091.

rs1491478809 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:39743820 (GRCh38)
17:37900074 (GRCh37)
Canonical SPDI:: NC_000017.11:39743820::G
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.39743820_39743821insG, NC_000017.10:g.37900073_37900074insG, NG_029932.1:g.10912_10913insG

Select item 14912018932.

rs1491201893 has merged into rs35101034 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:39743829 (GRCh38)
17:37900082 (GRCh37)
Canonical SPDI:: NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39743819:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.02505/25 (GoNL)
-=0.208614/804 (ALSPAC)
HGVS:: NC_000017.11:g.39743829_39743845del, NC_000017.11:g.39743831_39743845del, NC_000017.11:g.39743832_39743845del, NC_000017.11:g.39743833_39743845del, NC_000017.11:g.39743834_39743845del, NC_000017.11:g.39743835_39743845del, NC_000017.11:g.39743836_39743845del, NC_000017.11:g.39743837_39743845del, NC_000017.11:g.39743838_39743845del, NC_000017.11:g.39743839_39743845del, NC_000017.11:g.39743840_39743845del, NC_000017.11:g.39743841_39743845del, NC_000017.11:g.39743842_39743845del, NC_000017.11:g.39743843_39743845del, NC_000017.11:g.39743844_39743845del, NC_000017.11:g.39743845del, NC_000017.11:g.39743845dup, NC_000017.11:g.39743844_39743845dup, NC_000017.11:g.39743842_39743845dup, NC_000017.11:g.39743837_39743845dup, NC_000017.10:g.37900082_37900098del, NC_000017.10:g.37900084_37900098del, NC_000017.10:g.37900085_37900098del, NC_000017.10:g.37900086_37900098del, NC_000017.10:g.37900087_37900098del, NC_000017.10:g.37900088_37900098del, NC_000017.10:g.37900089_37900098del, NC_000017.10:g.37900090_37900098del, NC_000017.10:g.37900091_37900098del, NC_000017.10:g.37900092_37900098del, NC_000017.10:g.37900093_37900098del, NC_000017.10:g.37900094_37900098del, NC_000017.10:g.37900095_37900098del, NC_000017.10:g.37900096_37900098del, NC_000017.10:g.37900097_37900098del, NC_000017.10:g.37900098del, NC_000017.10:g.37900098dup, NC_000017.10:g.37900097_37900098dup, NC_000017.10:g.37900095_37900098dup, NC_000017.10:g.37900090_37900098dup, NG_029932.1:g.10921_10937del, NG_029932.1:g.10923_10937del, NG_029932.1:g.10924_10937del, NG_029932.1:g.10925_10937del, NG_029932.1:g.10926_10937del, NG_029932.1:g.10927_10937del, NG_029932.1:g.10928_10937del, NG_029932.1:g.10929_10937del, NG_029932.1:g.10930_10937del, NG_029932.1:g.10931_10937del, NG_029932.1:g.10932_10937del, NG_029932.1:g.10933_10937del, NG_029932.1:g.10934_10937del, NG_029932.1:g.10935_10937del, NG_029932.1:g.10936_10937del, NG_029932.1:g.10937del, NG_029932.1:g.10937dup, NG_029932.1:g.10936_10937dup, NG_029932.1:g.10934_10937dup, NG_029932.1:g.10929_10937dup

Select item 14906400843.

rs1490640084 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:39740130 (GRCh38)
17:37896383 (GRCh37)
Canonical SPDI:: NC_000017.11:39740129:G:
Gene:: GRB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39740130del, NC_000017.10:g.37896383del, NG_029932.1:g.7222del, NM_001242443.2:c.-102del, NM_001242443.1:c.-102del

Select item 14905170624.

rs1490517062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39742372 (GRCh38)
17:37898625 (GRCh37)
Canonical SPDI:: NC_000017.11:39742371:C:G
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39742372C>G, NC_000017.10:g.37898625C>G, NG_029932.1:g.9464C>G, NM_005310.5:c.71C>G, NM_005310.4:c.71C>G, NM_005310.3:c.71C>G, NM_001030002.3:c.71C>G, NM_001030002.2:c.71C>G, NM_001242443.2:c.71C>G, NM_001242443.1:c.71C>G, NM_001242442.2:c.140C>G, NM_001242442.1:c.140C>G, NM_001330207.2:c.71C>G, NM_001330207.1:c.71C>G, XM_047435857.1:c.71C>G, NP_005301.2:p.Pro24Arg, NP_001025173.1:p.Pro24Arg, NP_001229372.1:p.Pro24Arg, NP_001229371.2:p.Pro47Arg, NP_001317136.1:p.Pro24Arg, XP_047291813.1:p.Pro24Arg

Select item 14904657645.

rs1490465764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39742810 (GRCh38)
17:37899063 (GRCh37)
Canonical SPDI:: NC_000017.11:39742809:T:C
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000399/56 (GnomAD)
C=0.000416/110 (TOPMED)
HGVS:: NC_000017.11:g.39742810T>C, NC_000017.10:g.37899063T>C, NG_029932.1:g.9902T>C

Select item 14902593996.

rs1490259399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39738319 (GRCh38)
17:37894572 (GRCh37)
Canonical SPDI:: NC_000017.11:39738318:A:G
Gene:: GRB7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39738319A>G, NC_000017.10:g.37894572A>G, NG_029932.1:g.5411A>G

Select item 14902412107.

rs1490241210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39737312 (GRCh38)
17:37893565 (GRCh37)
Canonical SPDI:: NC_000017.11:39737311:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39737312C>T, NC_000017.10:g.37893565C>T, NG_029932.1:g.4404C>T

Select item 14901555418.

rs1490155541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39744694 (GRCh38)
17:37900947 (GRCh37)
Canonical SPDI:: NC_000017.11:39744693:C:G
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39744694C>G, NC_000017.10:g.37900947C>G, NG_029932.1:g.11786C>G

Select item 14901402609.

rs1490140260 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:39743817 (GRCh38)
17:37900070 (GRCh37)
Canonical SPDI:: NC_000017.11:39743816:T:
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.39743817del, NC_000017.10:g.37900070del, NG_029932.1:g.10909del

Select item 148966711010.

rs1489667110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39742301 (GRCh38)
17:37898554 (GRCh37)
Canonical SPDI:: NC_000017.11:39742300:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39742301C>T, NC_000017.10:g.37898554C>T, NG_029932.1:g.9393C>T, NM_005310.5:c.-1C>T, NM_005310.4:c.-1C>T, NM_005310.3:c.-1C>T, NM_001030002.3:c.-1C>T, NM_001030002.2:c.-1C>T, NM_001242443.2:c.-1C>T, NM_001242443.1:c.-1C>T, NM_001242442.2:c.69C>T, NM_001242442.1:c.69C>T, NM_001330207.2:c.-1C>T, NM_001330207.1:c.-1C>T, XM_047435857.1:c.-1C>T

Select item 148957155711.

rs1489571557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39746266 (GRCh38)
17:37902519 (GRCh37)
Canonical SPDI:: NC_000017.11:39746265:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.39746266C>T, NC_000017.10:g.37902519C>T, NG_029932.1:g.13358C>T

Select item 148947530412.

rs1489475304 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAGAGGGGG [Show Flanks]
Chromosome:: 17:39745780 (GRCh38)
17:37902034 (GRCh37)
Canonical SPDI:: NC_000017.11:39745780::TAGAGGGGG
Gene:: GRB7 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: TAGAGGGGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39745780_39745781insTAGAGGGGG, NC_000017.10:g.37902033_37902034insTAGAGGGGG, NG_029932.1:g.12872_12873insTAGAGGGGG, NM_005310.5:c.1262_1263insTAGAGGGGG, NM_005310.4:c.1262_1263insTAGAGGGGG, NM_005310.3:c.1262_1263insTAGAGGGGG, NM_001030002.3:c.1262_1263insTAGAGGGGG, NM_001030002.2:c.1262_1263insTAGAGGGGG, NM_001242443.2:c.1262_1263insTAGAGGGGG, NM_001242443.1:c.1262_1263insTAGAGGGGG, NM_001242442.2:c.1331_1332insTAGAGGGGG, NM_001242442.1:c.1331_1332insTAGAGGGGG, NM_001330207.2:c.1262_1263insTAGAGGGGG, NM_001330207.1:c.1262_1263insTAGAGGGGG, XM_047435857.1:c.1403_1404insTAGAGGGGG, NP_005301.2:p.Ser422_Ala423insArgGlyGly, NP_001025173.1:p.Ser422_Ala423insArgGlyGly, NP_001229372.1:p.Ser422_Ala423insArgGlyGly, NP_001229371.2:p.Ser445_Ala446insArgGlyGly, NP_001317136.1:p.Ser422_Ala423insArgGlyGly, XP_047291813.1:p.Ser469_Ala470insArgGlyGly

Select item 148934584013.

rs1489345840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:39745484 (GRCh38)
17:37901737 (GRCh37)
Canonical SPDI:: NC_000017.11:39745483:T:C,NC_000017.11:39745483:T:G
Gene:: GRB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39745484T>C, NC_000017.11:g.39745484T>G, NC_000017.10:g.37901737T>C, NC_000017.10:g.37901737T>G, NG_029932.1:g.12576T>C, NG_029932.1:g.12576T>G, NM_005310.5:c.1155T>C, NM_005310.5:c.1155T>G, NM_005310.4:c.1155T>C, NM_005310.4:c.1155T>G, NM_005310.3:c.1155T>C, NM_005310.3:c.1155T>G, NM_001030002.3:c.1155T>C, NM_001030002.3:c.1155T>G, NM_001030002.2:c.1155T>C, NM_001030002.2:c.1155T>G, NM_001242443.2:c.1155T>C, NM_001242443.2:c.1155T>G, NM_001242443.1:c.1155T>C, NM_001242443.1:c.1155T>G, NM_001242442.2:c.1224T>C, NM_001242442.2:c.1224T>G, NM_001242442.1:c.1224T>C, NM_001242442.1:c.1224T>G, NM_001330207.2:c.1155T>C, NM_001330207.2:c.1155T>G, NM_001330207.1:c.1155T>C, NM_001330207.1:c.1155T>G, XM_047435857.1:c.1296T>C, XM_047435857.1:c.1296T>G, NP_005301.2:p.Ile385Met, NP_001025173.1:p.Ile385Met, NP_001229372.1:p.Ile385Met, NP_001229371.2:p.Ile408Met, NP_001317136.1:p.Ile385Met, XP_047291813.1:p.Ile432Met

Select item 148908943114.

rs1489089431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:39738822 (GRCh38)
17:37895075 (GRCh37)
Canonical SPDI:: NC_000017.11:39738821:G:T
Gene:: GRB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.39738822G>T, NC_000017.10:g.37895075G>T, NG_029932.1:g.5914G>T, NM_001242442.2:c.-84G>T, NM_001242442.1:c.-84G>T

Select item 148899893015.

rs1488998930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:39738012 (GRCh38)
17:37894265 (GRCh37)
Canonical SPDI:: NC_000017.11:39738011:C:A,NC_000017.11:39738011:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.39738012C>A, NC_000017.11:g.39738012C>T, NC_000017.10:g.37894265C>A, NC_000017.10:g.37894265C>T, NG_029932.1:g.5104C>A, NG_029932.1:g.5104C>T, NM_005310.5:c.-172C>A, NM_005310.5:c.-172C>T, NM_005310.4:c.-172C>A, NM_005310.4:c.-172C>T, NM_005310.3:c.-172C>A, NM_005310.3:c.-172C>T, NM_001330207.2:c.-172C>A, NM_001330207.2:c.-172C>T, NM_001330207.1:c.-172C>A, NM_001330207.1:c.-172C>T

Select item 148869325816.

rs1488693258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39736976 (GRCh38)
17:37893229 (GRCh37)
Canonical SPDI:: NC_000017.11:39736975:T:C
Gene:: GRB7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39736976T>C, NC_000017.10:g.37893229T>C, NG_029932.1:g.4068T>C

Select item 148862501917.

rs1488625019 has merged into rs1403427566 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:39744491 (GRCh38)
17:37900744 (GRCh37)
Canonical SPDI:: NC_000017.11:39744490:GGGGGG:GGGGG,NC_000017.11:39744490:GGGGGG:GGGGGGG
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39744496del, NC_000017.11:g.39744496dup, NC_000017.10:g.37900749del, NC_000017.10:g.37900749dup, NG_029932.1:g.11588del, NG_029932.1:g.11588dup

Select item 148804195818.

rs1488041958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39746967 (GRCh38)
17:37903220 (GRCh37)
Canonical SPDI:: NC_000017.11:39746966:G:A
Gene:: GRB7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.39746967G>A, NC_000017.10:g.37903220G>A, NG_029932.1:g.14059G>A, NM_005310.5:c.*70G>A, NM_005310.4:c.*70G>A, NM_005310.3:c.*70G>A, NM_001030002.3:c.*70G>A, NM_001030002.2:c.*70G>A, NM_001242443.2:c.*70G>A, NM_001242443.1:c.*70G>A, NM_001242442.2:c.*70G>A, NM_001242442.1:c.*70G>A, NM_001330207.2:c.*237G>A, NM_001330207.1:c.*237G>A, XM_047435857.1:c.*70G>A

Select item 148771078519.

rs1487710785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39738074 (GRCh38)
17:37894327 (GRCh37)
Canonical SPDI:: NC_000017.11:39738073:T:C
Gene:: GRB7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39738074T>C, NC_000017.10:g.37894327T>C, NG_029932.1:g.5166T>C, NM_005310.5:c.-110T>C, NM_005310.4:c.-110T>C, NM_005310.3:c.-110T>C, NM_001330207.2:c.-110T>C, NM_001330207.1:c.-110T>C

Select item 148748889720.

rs1487488897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:39742762 (GRCh38)
17:37899015 (GRCh37)
Canonical SPDI:: NC_000017.11:39742761:G:T
Gene:: GRB7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39742762G>T, NC_000017.10:g.37899015G>T, NG_029932.1:g.9854G>T

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