SNP Links for Gene (Select 170062) - SNP

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Select item 14902899701.

rs1490289970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:34944300 (GRCh38)
X:34962417 (GRCh37)
Canonical SPDI:: NC_000023.11:34944299:G:C
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.34944300G>C, NC_000023.10:g.34962417G>C, NG_021372.1:g.6505G>C, NM_152631.3:c.1469G>C, NM_152631.2:c.1469G>C, NP_689844.2:p.Arg490Thr

Select item 14902584372.

rs1490258437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:34945414 (GRCh38)
X:34963531 (GRCh37)
Canonical SPDI:: NC_000023.11:34945413:T:C
Gene:: FAM47B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.34945414T>C, NC_000023.10:g.34963531T>C, NG_021372.1:g.7619T>C

Select item 14896125843.

rs1489612584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:34944485 (GRCh38)
X:34962602 (GRCh37)
Canonical SPDI:: NC_000023.11:34944484:T:A
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.34944485T>A, NC_000023.10:g.34962602T>A, NG_021372.1:g.6690T>A, NM_152631.3:c.1654T>A, NM_152631.2:c.1654T>A, NP_689844.2:p.Tyr552Asn

Select item 14884649534.

rs1488464953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:34944167 (GRCh38)
X:34962284 (GRCh37)
Canonical SPDI:: NC_000023.11:34944166:A:G
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.34944167A>G, NC_000023.10:g.34962284A>G, NG_021372.1:g.6372A>G, NM_152631.3:c.1336A>G, NM_152631.2:c.1336A>G, NP_689844.2:p.Thr446Ala

Select item 14866395825.

rs1486639582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:34944255 (GRCh38)
X:34962372 (GRCh37)
Canonical SPDI:: NC_000023.11:34944254:A:C,NC_000023.11:34944254:A:G
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.34944255A>C, NC_000023.11:g.34944255A>G, NC_000023.10:g.34962372A>C, NC_000023.10:g.34962372A>G, NG_021372.1:g.6460A>C, NG_021372.1:g.6460A>G, NM_152631.3:c.1424A>C, NM_152631.3:c.1424A>G, NM_152631.2:c.1424A>C, NM_152631.2:c.1424A>G, NP_689844.2:p.Asn475Thr, NP_689844.2:p.Asn475Ser

Select item 14865587466.

rs1486558746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:34942093 (GRCh38)
X:34960210 (GRCh37)
Canonical SPDI:: NC_000023.11:34942092:G:A,NC_000023.11:34942092:G:C
Gene:: FAM47B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000038/4 (GnomAD)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.34942093G>A, NC_000023.11:g.34942093G>C, NC_000023.10:g.34960210G>A, NC_000023.10:g.34960210G>C, NG_021372.1:g.4298G>A, NG_021372.1:g.4298G>C

Select item 14865064137.

rs1486506413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:34943536 (GRCh38)
X:34961653 (GRCh37)
Canonical SPDI:: NC_000023.11:34943535:C:T
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.34943536C>T, NC_000023.10:g.34961653C>T, NG_021372.1:g.5741C>T, NM_152631.3:c.705C>T, NM_152631.2:c.705C>T

Select item 14855278528.

rs1485527852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:34943803 (GRCh38)
X:34961920 (GRCh37)
Canonical SPDI:: NC_000023.11:34943802:C:A,NC_000023.11:34943802:C:T
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.34943803C>A, NC_000023.11:g.34943803C>T, NC_000023.10:g.34961920C>A, NC_000023.10:g.34961920C>T, NG_021372.1:g.6008C>A, NG_021372.1:g.6008C>T, NM_152631.3:c.972C>A, NM_152631.3:c.972C>T, NM_152631.2:c.972C>A, NM_152631.2:c.972C>T

Select item 14852048489.

rs1485204848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:34944153 (GRCh38)
X:34962270 (GRCh37)
Canonical SPDI:: NC_000023.11:34944152:A:T
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.34944153A>T, NC_000023.10:g.34962270A>T, NG_021372.1:g.6358A>T, NM_152631.3:c.1322A>T, NM_152631.2:c.1322A>T, NP_689844.2:p.Glu441Val

Select item 148478492910.

rs1484784929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:34941115 (GRCh38)
X:34959232 (GRCh37)
Canonical SPDI:: NC_000023.11:34941114:C:T
Gene:: FAM47B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.34941115C>T, NC_000023.10:g.34959232C>T, NG_021372.1:g.3320C>T

Select item 148359080211.

rs1483590802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:34943409 (GRCh38)
X:34961526 (GRCh37)
Canonical SPDI:: NC_000023.11:34943408:A:G
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.34943409A>G, NC_000023.10:g.34961526A>G, NG_021372.1:g.5614A>G, NM_152631.3:c.578A>G, NM_152631.2:c.578A>G, NP_689844.2:p.Glu193Gly

Select item 148308703612.

rs1483087036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:34943182 (GRCh38)
X:34961299 (GRCh37)
Canonical SPDI:: NC_000023.11:34943181:C:T
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.34943182C>T, NC_000023.10:g.34961299C>T, NG_021372.1:g.5387C>T, NM_152631.3:c.351C>T, NM_152631.2:c.351C>T

Select item 148261183213.

rs1482611832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:34942875 (GRCh38)
X:34960992 (GRCh37)
Canonical SPDI:: NC_000023.11:34942874:T:C,NC_000023.11:34942874:T:G
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.34942875T>C, NC_000023.11:g.34942875T>G, NC_000023.10:g.34960992T>C, NC_000023.10:g.34960992T>G, NG_021372.1:g.5080T>C, NG_021372.1:g.5080T>G, NM_152631.3:c.44T>C, NM_152631.3:c.44T>G, NM_152631.2:c.44T>C, NM_152631.2:c.44T>G, NP_689844.2:p.Met15Thr, NP_689844.2:p.Met15Arg

Select item 148042915414.

rs1480429154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:34944377 (GRCh38)
X:34962494 (GRCh37)
Canonical SPDI:: NC_000023.11:34944376:G:T
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.34944377G>T, NC_000023.10:g.34962494G>T, NG_021372.1:g.6582G>T, NM_152631.3:c.1546G>T, NM_152631.2:c.1546G>T, NP_689844.2:p.Asp516Tyr

Select item 147962837515.

rs1479628375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:34945124 (GRCh38)
X:34963241 (GRCh37)
Canonical SPDI:: NC_000023.11:34945123:C:A
Gene:: FAM47B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.34945124C>A, NC_000023.10:g.34963241C>A, NG_021372.1:g.7329C>A

Select item 147899671816.

rs1478996718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:34944987 (GRCh38)
X:34963104 (GRCh37)
Canonical SPDI:: NC_000023.11:34944986:T:A
Gene:: FAM47B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.34944987T>A, NC_000023.10:g.34963104T>A, NG_021372.1:g.7192T>A

Select item 147837395517.

rs1478373955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:34943740 (GRCh38)
X:34961857 (GRCh37)
Canonical SPDI:: NC_000023.11:34943739:A:G
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00137/4 (KOREAN)
HGVS:: NC_000023.11:g.34943740A>G, NC_000023.10:g.34961857A>G, NG_021372.1:g.5945A>G, NM_152631.3:c.909A>G, NM_152631.2:c.909A>G

Select item 147678540418.

rs1476785404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:34941383 (GRCh38)
X:34959500 (GRCh37)
Canonical SPDI:: NC_000023.11:34941382:C:T
Gene:: FAM47B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000049/5 (GnomAD)
HGVS:: NC_000023.11:g.34941383C>T, NC_000023.10:g.34959500C>T, NG_021372.1:g.3588C>T

Select item 147651095319.

rs1476510953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:34942522 (GRCh38)
X:34960639 (GRCh37)
Canonical SPDI:: NC_000023.11:34942521:A:G
Gene:: FAM47B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.34942522A>G, NC_000023.10:g.34960639A>G, NG_021372.1:g.4727A>G

Select item 147561940420.

rs1475619404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:34943453 (GRCh38)
X:34961570 (GRCh37)
Canonical SPDI:: NC_000023.11:34943452:G:C
Gene:: FAM47B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.34943453G>C, NC_000023.10:g.34961570G>C, NG_021372.1:g.5658G>C, NM_152631.3:c.622G>C, NM_152631.2:c.622G>C, NP_689844.2:p.Val208Leu

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